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Tytuł :
Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients.
Autorzy :
Fayssoil A; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Service de cardiologie, Centre de référence des cardiomyopathies et des troubles du rythme cardiaque héréditaires ou rares, Hôpital Ambroise Paré, AP-HP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Boulogne-Billancourt, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Chaffaut C; Service de Biostatistiques et Information Médicale (SBIM), Hôpital Saint Louis, APHP, Université Paris, Paris, France.
Prigent H; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Service de Physiologie-Explorations fonctionnelles, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Laforet P; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Service de Neurologie/Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Clair B; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Orlikowski D; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Ogna A; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Chevret S; Service de Biostatistiques et Information Médicale (SBIM), Hôpital Saint Louis, APHP, Université Paris, Paris, France.
Meng P; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Annane D; Service de Médecine intensive et Réanimation/Unité de ventilation à domicile, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Lofaso F; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Service de Physiologie-Explorations fonctionnelles, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
Crenn P; CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique (CIC) 1429 INSERM, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.; Unité de Nutrition clinique transversale, Hôpital Raymond Poincaré, APHP Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.
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Źródło :
Pediatric pulmonology [Pediatr Pulmonol] 2021 May 03. Date of Electronic Publication: 2021 May 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.
Autorzy :
Querin G; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.; Institut de Myologie, I-Motion Adultes Plateforme, Paris, France.
Lenglet T; Département de Neurophysiologie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Debs R; Département de Neurophysiologie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
Stojkovic T; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.
Behin A; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.
Salachas F; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Le Forestier N; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.; Département de Recherche en Éthique, EA 1610: Etudes Des Sciences Et Techniques, Université Paris Sud/Paris Saclay, Paris, France.
Amador MDM; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Bruneteau G; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Laforêt P; Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond-Poincaré Hospital, Garches, France.; INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Blancho S; Institut Pour La Recherche Sur La Moelle Epinière Et L'Encéphale (IRME), Paris, France.
Marchand-Pauvert V; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.
Bede P; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.; Computational Neuroimaging Group, Academic Unit of Neurology, Trinity College, Dublin, Ireland.
Hogrel JY; Institute of Myology, Neuromuscular Investigation Center, Paris, France.
Pradat PF; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France. .; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France. .; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, Altnagelvin Hospital, Derry/Londonderry, C-TRIC, UK. .; Département de Neurologie, 47 Boulevard de l'sHôpital, 75634, Paris cedex 13, France. .
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Źródło :
Journal of neurology [J Neurol] 2021 May; Vol. 268 (5), pp. 1792-1802. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Autorzy :
Stalens C; Medical Affairs Department, AFM-Téléthon, Evry, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), France.
Motté L; AP-HP, Cochin Hospital, Cardiology Department, Paris, France.
Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Ben Yaou R; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Leturcq F; AP-HP, Cochin Hospital, Department of Genetics and Molecular Biology, Paris, France.
Bassez G; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Laforêt P; Neurology Department, CHU Paris IdF Ouest-Hôpital Raymond Poincaré, Garches, France.
Fontaine B; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Ederhy S; AP-HP, Saint Antoine Hospital, Cardiology Department, Paris, France.
Masingue M; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Saadi M; AP-HP, Cochin Hospital, Cardiology Department, Paris, France.
Louis SL; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Duboc D; AP-HP, Cochin Hospital, Cardiology Department, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Wahbi K; AP-HP, Cochin Hospital, Cardiology Department, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Inserm, UMRS, Paris, France.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2021 Mar 29. Date of Electronic Publication: 2021 Mar 29.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Autorzy :
Porcher R; Université de Paris, CRESS UMR1153, INSERM, INRA, F-75004, Paris, France; Centre d'Epidémiologie Clinique, AP-HP, Hôtel-Dieu, F-75004 Paris, France.
Desguerre I; AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neurologie Pédiatrique, Hôpital Necker, GH Necker-Enfants Malades, Paris, France.
Amthor H; Versailles Saint-Quentin-en-Yvelines University, INSERM U1179, LIA BAHN CSM, Montigny-le-Bretonneux, 78180, Neuromuscular Reference Centre, Paediatric Department, University Hospital Raymond Poincaré, Garches, 92380, France.
Chabrol B; Hôpital Timone Enfants, Marseille, France.
Audic F; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Roger Salengro, CHRU Lille, Lille, France.
Rivier F; Department of Paediatric Neurology & Reference Centre for Neuromuscular Diseases AOC, CHU Montpellier, France.; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
Isapof A; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
Tiffreau V; Physical and Rehabilitation Medicine Unit, University Hospital, Lille, France, URePSSS (Pluridisciplinary Research Unit: Sports, Health, Society) EA, 7369, Lille University.
Campana-Salort E; APHM, Department of Neurology, Neuromuscular and ALS Reference Centre, La Timone University Hospital, Marseille, France  Aix Marseille Université, INSERM, GMGF, Marseille, France.
Leturcq F; Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin et Institut de Myologie, Groupe Hospitalier La Pitié Salpétrière, APHP, France.
Tuffery-Giraud S; Laboratory of Genetics of Rare Diseases (LGMR), University of Montpellier, Montpellier, France.
Ben Yaou R; Sorbonne Universités, INSERM UMRS 974, CNRS, UMR-7215, Centre for Research in Myology, Institut de Myologie, Pitié-Salpêtrière University Hospital, Paris, France.; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.
Annane D; General Intensive Care Unit, Raymond Poincaré Hospital (AP-HP), Lab Inflammation & Infection, U1173 University Paris Saclay-UVSQ/INSERM, Garches, France.
Amédro P; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.; Paediatric Cardiology, CHU Montpellier, France.
Barnerias C; AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neurologie Pédiatrique, Hôpital Necker, GH Necker-Enfants Malades, Paris, France.
Bécane HM; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.
Béhin A; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.
Bonnet D; AP-HP, Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de Référence des Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker Enfants Malades, Université Paris Descartes, Sorbonne Paris-Cité, Paris, France.
Bassez G; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.
Cossée M; Laboratory of Genetics of Rare Diseases (LGMR), University of Montpellier, Montpellier, France.
de La Villéon G; Paediatric Cardiology, CHU Montpellier, France.
Delcourte C; Critical Care Centre, University Hospital of Lille, Lille Cedex, France.
Fayssoil A; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.; APHP, Hôpital Raymond Poincaré, Centre de Référence des Maladies Neuromusculaires Nord-Est-Île de France, Garches, France.
Fontaine B; Department of Neurology & Reference Centre for Neuromuscular Diseases AOC, CHU Montpellier, France.
Godart F; Pediatric Cardiology Department, Lille University Hospital, University Nord de France, Lille, France.
Guillaumont S; Paediatric Cardiology, CHU Montpellier, France.
Jaillette E; Intensive Care Unit, CHU de Lille, Lille, France.
Laforêt P; APHP, Hôpital Raymond Poincaré, Centre de Référence des Maladies Neuromusculaires Nord-Est-Île de France, Garches, France.
Leonard-Louis S; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department, Pitié-Salpêtrière Hospital, Paris, France.
Lofaso F; Service d'Explorations Fonctionnelles, Hôpital Raymond Poincaré, Garches, France  INSERM Université de Versailles Saint Quentin en Yvelines, France.
Mayer M; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
Morales RJ; Department of Neurology & Reference Centre for Neuromuscular Diseases AOC, CHU Montpellier, France.
Meune C; APHP, Department of Cardiology, Bobigny Hospital, Paris, XIII University, INSERM UMR S-942, Paris, France.
Orlikowski D; Réanimation Adultes, APHP, Hôpitaux Universitaires Paris Ile de France Ouest, site R. Poincaré, Garches, France; CIC1429 INSERM AP-HP, Hôpitaux Universitaires Paris Ile de France Ouest, site R. Poincaré, Garches, France.
Ovaert C; Pediatric and Congenital Cardiology, M3C Regional Reference CHD Centre, University Hospital, Marseille Medical Genetics, INSERM UMR 1251, Aix Marseille University, Marseille, France.
Prigent H; Réanimation adultes, APHP, Hôpitaux Universitaires Paris Ile de France Ouest, site R. Poincaré, Garches, France.
Saadi M; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Sochala M; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Tard C; Unité de Cardiologie Congénitale, Hôpital Privé de La Louvière, Lille, France.
Vaksmann G; Unité de Cardiologie Congénitale, Hôpital Privé de La Louvière, Lille, France.
Walther-Louvier U; Department of Paediatric Neurology & Reference Centre for Neuromuscular Diseases AOC, CHU Montpellier, France.
Eymard B; Sorbonne Universités, INSERM UMRS 974, CNRS, UMR-7215, Centre for Research in Myology, Institut de Myologie, Pitié-Salpêtrière University Hospital, Paris, France.
Stojkovic T; Sorbonne Universités, INSERM UMRS 974, CNRS, UMR-7215, Centre for Research in Myology, Institut de Myologie, Pitié-Salpêtrière University Hospital, Paris, France.
Ravaud P; Université de Paris, CRESS UMR1153, INSERM, INRA, F-75004, Paris, France; Centre d'Epidémiologie Clinique, AP-HP, Hôtel-Dieu, F-75004 Paris, France.
Duboc D; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
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Źródło :
European heart journal [Eur Heart J] 2021 Mar 22. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Autorzy :
Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Querin G; Plateforme I-Motion Adultes, Service de Neuromyologie, Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Moore U; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Behin A; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Masingue M; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Bassez G; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Leonard-Louis S; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Laforêt P; Nord-Est/Ile-de-France Neuromuscular Reference Center, FHU PHENIX, Neurology Department, Raymond-Poincaré Hospital, Versailles Saint-Quentin-en-Yvelines - Paris Saclay University, Garches, France.
Maisonobe T; Department of Clinical Neurophysiology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Merle PE; Department of Clinical Neurophysiology, Amiens University Hospital, Amiens, France.
Spinazzi M; Neuromuscular Reference Center, Angers University Hospital, Angers, France.
Solé G; Referral Center for Neuromuscular Diseases 'AOC', Nerve-Muscle Unit, Bordeaux University Hospitals (Pellegrin Hospital), Bordeaux, France.
Kuntzer T; Nerve-Muscle Unit, Department of Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
Bedat-Millet AL; Neuromuscular Reference Center, Rouen University Hospital, Rouen, France.
Salort-Campana E; PACA Réunion Rhone Alpes Neuromuscular Reference Center, APHM, La Timone University Hospital, Marseille, France.
Attarian S; PACA Réunion Rhone Alpes Neuromuscular Reference Center, APHM, La Timone University Hospital, Marseille, France.
Péréon Y; Reference Center for Neuromuscular Diseases Atlantique-Occitanie-Caraïbes, Nantes University Hospital, Nantes, France.
Feasson L; Neuromuscular Reference Center, Unit of Myology, Inter-University Laboratory of Human Movement Biology, Saint-Etienne University Hospital, Saint-Étienne, France.
Graveleau J; Neuromuscular Reference Center, Saint-Nazaire Hospital, Saint-Nazaire, France.
Nadaj-Pakleza A; Nord-Est/Ile-de-France Neuromuscular Reference Center, Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
Leturcq F; Genetics and Molecular Biology Laboratory, Cochin University Hospital, Paris, France.
Gorokhova S; Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille University, Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.
Krahn M; Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille University, Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.
Eymard B; Nord-Est/Ile-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Hospital, Sorbonne University, Garches, France.
Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Evangelista T; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
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Corporate Authors :
Jain COS Consortium
Źródło :
European journal of neurology [Eur J Neurol] 2021 Mar 13. Date of Electronic Publication: 2021 Mar 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Bariatric surgery related proximal myopathy: A partially reversible complication.
Autorzy :
Brisset M; Department of Neurology, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France. Electronic address: .
Durand MC; Department of Physiology, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
Iosif A; Department of Neurology, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
Hanachi M; Department of Clinical nutrition, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
Palazzo C; Department of Rehabilitation, Cochin Hospital, AP-HP, 27, rue du Faubourg Saint-Jacques, 75014 Paris, France.
Carlier RY; Department of Imagery, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
Laforêt P; Paris-Est Neuromuscular Center, GH Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
Nicolas G; Department of Neurology, Raymond-Poincaré Hospital, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
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Źródło :
Revue neurologique [Rev Neurol (Paris)] 2021 Feb 24. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
Autorzy :
Guimarães-Costa R; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Fernández-Eulate G; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Wahbi K; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Leturcq F; Department of Biochemistry and Molecular Genetics, Cochin Hospital, Paris, France.
Malfatti E; Department of Neurology, APHP, Raymond Poincaré Hospital, Nord-Est/Ile-de-France Neuromuscular Reference Center, Versailles Paris-Saclay, U 1179 INSERM, Versailles Saint-Quentin-en-Yvelines University, Saint-Aubin, France.
Behin A; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Leonard-Louis S; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Desguerre I; Developmental Diseases Clinic, Necker-Enfants Malades Hospital, Paris, France.
Barnerias C; Developmental Diseases Clinic, Necker-Enfants Malades Hospital, Paris, France.
Nougues MC; Department of Neuropediatrics, Nord-Est/Ile-de-France Neuromuscular Reference Center, Armand-Trousseau Children's Hospital, Paris, France.
Isapof A; Department of Neuropediatrics, Nord-Est/Ile-de-France Neuromuscular Reference Center, Armand-Trousseau Children's Hospital, Paris, France.
Estournet-Mathiaud B; Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, APHP Paris-Saclay. UVSQ U1179 INSERM, Garches, France.
Quijano-Roy S; Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, APHP Paris-Saclay. UVSQ U1179 INSERM, Garches, France.
Fayssoil A; Pneumology Intensive Care Unit, Raymond Poincaré Hospital, Paris, France.
Orlikowski D; Resuscitation Department and Domiciliary Ventilation Unit, Raymond Poincaré Hospital, Paris, France.
Fauroux B; Pneumology Department, Armand-Trousseau Children's Hospital, Paris, France.
Richard I; INTEGRARE, Genethon, Inserm, Evry University, Paris-Saclay University, Evry, France.
Semplicini C; Department of Neurosciences, University of Padua, Padua, Italy.
Romero NB; Neuromuscular Morphology Unit, Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Querin G; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Eymard B; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Laforêt P; Nord-Est/Ile-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Hospital, Garches, France.
Stojkovic T; Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Źródło :
European journal of neurology [Eur J Neurol] 2021 Feb; Vol. 28 (2), pp. 660-669. Date of Electronic Publication: 2020 Nov 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.
Autorzy :
Laforêt P; Neurology Unit, Raymond Poincaré Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Oldfors A; Department of Laboratory Medicine, Sahlgrenska University Hospital, Institute of Biomedicine, University of Gothenburg, Sweden. Electronic address: .
Malfatti E; Neuromuscular Reference Center, Henri Mondor University Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
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Corporate Authors :
ENMC 251st workshop study group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Jan 23. Date of Electronic Publication: 2021 Jan 23.
Typ publikacji :
Clinical Conference
Konferencja
Tytuł :
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Autorzy :
Berling É; Généthon, Evry, France.; Université Paris-Saclay, Univ Evry, INSERM, Généthon, Integrare Research Unit UMR_S951, Evry, France.
Laforêt P; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.; INSERM U 1179, Université Versailles Saint Quentin en Yvelines, Paris-Saclay, France.
Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Labrune P; APHP, Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, 92141 Clamart cedex, France.; INSERM U1195, Université Paris-Saclay, Le Kremlin Bicêtre, France.
Petit F; Department of Genetics, APHP, Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Ronzitti G; Généthon, Evry, France.; Université Paris-Saclay, Univ Evry, INSERM, Généthon, Integrare Research Unit UMR_S951, Evry, France.
O'Brien A; Généthon, Evry, France.; Service de Médecine Génique, Département de Médecine, Centre Hospitalier de l'Université de Montréal (CHUM), Montréal, Quebec, Canada.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Dec 24. Date of Electronic Publication: 2020 Dec 24.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
[Sarcoglycanopathies: state of the art and therapeutic perspectives].
Autorzy :
Fernández-Eulate G; Centre de Référence des maladies neuromusculaires Nord/Est/Île-de-France, APHP, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Leturcq F; Laboratoire de biochimie génétique. APHP, Hôpital Cochin, Paris, France.
Laforêt P; Centre de Référence des maladies neuromusculaires Nord/Est/Île-de-France. APHP, CHU Raymond Poincaré, Garches. Université Paris-Saclay, France.
Richard I; Généthon, 91000, Évry, France - Université Paris-Saclay, Université d'Evry, Inserm, Généthon, unité de recherche Integrare UMR_S951, 91000, Évry, France.
Stojkovic T; Centre de Référence des maladies neuromusculaires Nord/Est/Île-de-France, APHP, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France.
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Transliterated Title :
Les sarcoglycanopathies - État des lieux et perspectives thérapeutiques.
Źródło :
Medecine sciences : M/S [Med Sci (Paris)] 2020 Dec; Vol. 36 Hors série n° 2, pp. 22-27. Date of Electronic Publication: 2021 Jan 11.
Typ publikacji :
English Abstract; Journal Article
Czasopismo naukowe
Tytuł :
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Autorzy :
Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
Lucia A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.
Santalla A; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.; Universidad Pablo de Olavide, Seville, Spain.
Martinuzzi A; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy.
Vavla M; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy.
Reni G; Dept. of Conegliano-Pieve Di Soligo, IRCCS Medea Scientific Insitute, Bosisio Parini, Italy.
Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Musumeci O; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Kouwenberg CV; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Laforêt P; Nord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, Garches. AP-HP. INSERM U1179, END-ICAP, Paris Saclay University, Paris, France.
San-Millán B; Pathology Deparment, Alvaro Cunqueiro Hospital, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.
Vieitez I; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.
Siciliano G; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Kühnle E; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany.
Trost R; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany.
Sacconi S; Peripheral Nervous System and Muscle Department, CHU Nice, Université Côte D'Azur, Institute for Research On Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Faculty of Medicine, Université Côte D'Azur (UCA), Nice, France.
Stemmerik MG; Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark.
Durmus H; Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Wakelin A; Association for Glycogen Storage Disease (UK), Bristol, UK.
Andreu AL; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Marti R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
Vissing J; Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark. .
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Corporate Authors :
EUROMAC Consortium
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 24; Vol. 15 (1), pp. 330. Date of Electronic Publication: 2020 Nov 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
Autorzy :
Semplicini C; Department of Neurosciences, University of Padova, Azienda Ospedaliera di Padova, Padova, Italy.; Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
De Antonio M; Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
Taouagh N; Institut de Myologie, Hôpital La Pitié-Salpétrière, AP-HP, Paris, France.
Béhin A; Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
Bouhour F; Service ENMG et pathologies neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France.
Echaniz-Laguna A; Département de Neurologie, CHU Bicêtre, Le Kremlin Bicêtre, France.
Magot A; Centre de Référence des maladies neuromusculaires Nantes-Angers, Service des Explorations Fonctionnelles, CHU, Nantes, France.
Nadaj-Pakleza A; Department of Neurology, University Hospital Strasbourg, Strasbourg, France.
Orlikowski D; Pôle de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré, Garches, France.; CIC 1429, INSERM, AP-HP, Hôpital Raymond Poincaré, Garches, France.
Sacconi S; Centre de référence des Maladies Neuromusculaires, Hôpital Archet, Nice, France.; CNRS UMR7277, INSERM U1091, IBV - Institute of Biology Valrose, UNS Université Nice Sophia Antipolis, Faculté de Médecine, Parc Valrose, Nice, France.
Salort-Campana E; Reference Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France.
Solé G; AOC (Atlantique-Occitanie-Caraïbe) Reference Center for Neuromuscular Disorders, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, Bordeaux, France.
Tard C; CHU de Lille, Inserm U1171, Neurology Department, Reference Center for Neuromuscular Disorders, Lille, France.
Zagnoli F; CHRU Cavale-Blanche, boulevard Tanguy-Prigent, Brest, France.
Hogrel JY; Institut de Myologie, Hôpital La Pitié-Salpétrière, AP-HP, Paris, France.
Hamroun D; Direction de la Recherche et de l'Innovation, CHRU de Montpellier, Hôpital La Colombière, Montpellier, France.
Laforêt P; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, Garches, France.; INSERM U1179, END-ICAP, équipe Biothérapies des Maladies du Système Neuromusculaire, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
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Corporate Authors :
French Pompe Study Group
Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1219-1231. Date of Electronic Publication: 2020 Jul 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Autorzy :
Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.
Andreu AL; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Hadjigeorgiou GM; Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, Volos, Greece.
Haller RG; Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, TX, USA.
Laforêt P; Nord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France.; INSERM U1179, END-ICAP, Paris Saclay University, Paris, France.
Lucía A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, ('imas12'), Madrid, Spain.
Martín MA; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, ('imas12'), Madrid, Spain.
Martinuzzi A; Department of Conegliano-Pieve di Soligo, IRCCS Eugenio Medea-Associazione 'La Nostra Famiglia' Scientific Institute, Bosisio Parini, Italy.
Navarro C; Institute of Biomedical Research of Vigo, Vigo, Spain.
Oflazer P; Department of Neurology, Neuromuscular Unit, Istanbul University, Istanbul, Turkey.
Pouget J; Centre de Référence Maladies Neuromusculaires, Assistance Publique-Hopitaux de Marseille, Marseille, France.
Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
Sacconi S; University of Nice, Nice, France.
Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Vissing J; Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Vorgerd M; Heimer Institute for Muscle Research, University Hospital Bergmannsheil Bochum, Bochum, Germany.
Wakelin A; Association for Glycogen storage Disease, Bristol, UK.
Martí R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain. .
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Corporate Authors :
EUROMAC Consortium
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 15; Vol. 15 (1), pp. 187. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.
Autorzy :
Brisset M; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France.
Metay C; APHP, Centre de Génétique Moléculaire et Chromosomique, Service de Biochimie Métabolique, U.F de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Groupe Hospitalier La Pitié-Salpêtrière Charles Foix, Paris, France.
Carlier RY; APHP, Medical imaging Department, Raymond Poincaré teaching Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, GHU PIFO, 104 Bld Raymond Poincaré, 92380 Garches, France.
Badosa C; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands.
Marques C; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands.
Schalkwijk J; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu Hospital Sant Joan de Deu, Barcelona Spain.
vanVlijmen-Willems I; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu Hospital Sant Joan de Deu, Barcelona Spain.
Jimenez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu Hospital Sant Joan de Deu, Barcelona Spain; U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain; Department of Genetics, Microbiology and Statistics, University of Barcelona, Spain.
Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de cytogénétique, Paris, France.
Jobic V; APHP, Centre de Génétique Moléculaire et Chromosomique, Service de Biochimie Métabolique, U.F de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Groupe Hospitalier La Pitié-Salpêtrière Charles Foix, Paris, France.
Laforêt P; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire : Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles Saint Quentin en Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, 92380 Paris-Saclay, France.
Malfatti E; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire : Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles Saint Quentin en Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, 92380 Paris-Saclay, France. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Oct; Vol. 30 (10), pp. 833-838. Date of Electronic Publication: 2020 Sep 07.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Autorzy :
Echaniz-Laguna A; Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin Bicêtre, France.; French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France.; Inserm U1195 & Paris-Saclay University, Le Kremlin Bicêtre, France.
Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.
Laforêt P; Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Garches, France.
Orngreen MC; Copenhagen Neuromuscular Center, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
Edelweiss E; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.
Brochier G; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Bui MT; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.
Silva-Rojas R; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.
Birck C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.; Structural Biology & Genomics Platform, IGBMC, Illkirch, France.
Lannes B; Department of Pathology, Strasbourg University Hospital, Strasbourg, France.
Romero NB; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université Sorbonne, UPMC Paris 06 University, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France.
Vissing J; Copenhagen Neuromuscular Center, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.
Böhm J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM U1258, Illkirch, France.; CNRS UMR7104, Illkirch, France.; Strasbourg University, Illkirch, France.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 274-282. Date of Electronic Publication: 2020 Jun 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Glycogen Phosphorylase, Muscle Form/*genetics
Glycogen Storage Disease/*diagnosis
Glycogen Storage Disease/*genetics
Mutation/*genetics
Adult ; Female ; Humans ; Male ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Autorzy :
Barp A; From the Neurology Clinic, Gorizia Hospital, Gorizia, Italy.
Bellance R; Neuromuscular Reference Center, CHU Fort-de-France, Fort de France.
Malfatti E
Rigal O; Centre de Référence Maladies Métaboliques-Service Biochimie Hormonologie APHP- Hôpital Robert Debré, Paris.
Acquaviva-Bourdain C; Service Maladies Héréditaires du Métabolisme, Centre de biologie et Pathologie Est, Groupement Hospitalier Est, CHU Lyon, Bron, France.
Laforet P; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches.
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Źródło :
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2020 Aug; Vol. 26 (5), pp. e125-e127.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
Autorzy :
Solé G; Reference Center for Neuromuscular Disorders AOC, Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), place Amélie-Raba-Léon, 33076 Bordeaux, France.
Salort-Campana E; Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 13385 Marseille, France; Medical Genetics, Aix-Marseille Université, Inserm UMR_1251, 13005 Marseille, France.
Pereon Y; CHU Nantes, Reference Center for Neuromuscular Disorders AOC, Hôtel-Dieu, Nantes, France.
Stojkovic T; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière, Inserm UMR_S 974, Paris, France.
Wahbi K; AP-HP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Île-de-France, Paris-Descartes, Sorbonne Paris Cité University, 75006 Paris, France; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Cintas P; Reference Center of Neuromuscular Disorders AOC, Toulouse, University Hospitals, 31000 Toulouse, France.
Adams D; Department of Neurology, CHU Bicetre, Hôpitaux Universitaires Paris Sud, Paris, France.
Laforet P; Nord/Est/Île-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France; INSERM U1179, END-ICAP, Versailles-Saint-Quentin-en-Yvelines University, Université Paris Saclay, Montigny-le-Bretonneux, France.
Tiffreau V; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Hôpital Pierre-Swynghedauw, CHU de Lille, EA 7369 URePSSS, 59000 Lille, France.
Desguerre I; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Pediatric Neurology Department, Necker-Enfants-Malades Hospital, AP-HP, Paris, France.
Pisella LI; Filnemus, AP-HM, Marseille, France.
Molon A; Filnemus, AP-HM, Marseille, France.
Attarian S; Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 13385 Marseille, France; Medical Genetics, Aix-Marseille Université, Inserm UMR_1251, 13005 Marseille, France. Electronic address: .
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Corporate Authors :
FILNEMUS COVID-19 study group
Źródło :
Revue neurologique [Rev Neurol (Paris)] 2020 Jun; Vol. 176 (6), pp. 507-515. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji :
Practice Guideline
MeSH Terms :
Betacoronavirus*
Pandemics*
Coronavirus Infections/*epidemiology
Neuromuscular Diseases/*therapy
Pneumonia, Viral/*epidemiology
Angiotensin Receptor Antagonists/therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Antimalarials/therapeutic use ; Azithromycin/therapeutic use ; COVID-19 ; Cardiorespiratory Fitness ; Coronavirus Infections/drug therapy ; Emergency Treatment ; France/epidemiology ; Glycogen Storage Disease Type II/therapy ; Hospitalization ; Humans ; Hydroxychloroquine/therapeutic use ; Immune System Diseases/therapy ; Immunoglobulins, Intravenous/therapeutic use ; Immunosuppressive Agents/therapeutic use ; Muscular Atrophy, Spinal/drug therapy ; Oligonucleotides/therapeutic use ; Physical Therapy Modalities ; Pneumonia, Viral/drug therapy ; Prognosis ; RNA, Small Interfering/therapeutic use ; SARS-CoV-2 ; Steroids/therapeutic use ; Withholding Treatment ; alpha-Glucosidases/therapeutic use
Tytuł :
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Autorzy :
Lefeuvre C; Neurology Department, Raymond Poincaré University Hospital, Garches, APHP, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, France.
Schaeffer S; Neurology department, Caen University Hospital, France.
Carlier RY; Radiology Department, DMU Smart Imaging Raymond Poincaré Hospital, Garches, GH, Université Paris Saclay, APHP, France.; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines, Paris, Saclay, France.
Fournier M; Neurology department, Caen University Hospital, France.
Chapon F; Anatomo-pathology Department, Caen Universitary Hospital, INSERM U 1075, France.
Biancalana V; Laboratoire Diagnostic Génétique, Faculté de Médecine-CHRU, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
Nicolas G; Neurology Department, Raymond Poincaré University Hospital, Garches, APHP, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, France.; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines, Paris, Saclay, France.
Malfatti E; Neurology Department, Raymond Poincaré University Hospital, Garches, APHP, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, France.; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines, Paris, Saclay, France.
Laforêt P; Neurology Department, Raymond Poincaré University Hospital, Garches, APHP, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, France.; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines, Paris, Saclay, France.
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Źródło :
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 May 24; Vol. 24, pp. 100597. Date of Electronic Publication: 2020 May 24 (Print Publication: 2020).
Typ publikacji :
Case Reports
Raport
Tytuł :
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.
Autorzy :
Tebani A; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.
Mauhin W; Department of Internal Medicine, Groupe Hospitalier Diaconesses Croix Saint Simon, & INSERM U 974, 75014 Paris, France.
Abily-Donval L; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
Lesueur C; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
Berger MG; CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, 63003 Clermont-Ferrand, France.; Université Clermont Auvergne, EA 7453 CHELTER, 63000 Clermont-Ferrand, France.
Nadjar Y; Neurology Department, Reference center for Lysosomal Diseases, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
Berger J; CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, 63003 Clermont-Ferrand, France.; Université Clermont Auvergne, EA 7453 CHELTER, 63000 Clermont-Ferrand, France.
Benveniste O; Department of Internal Medicine, Hôpital Pitié-Salpêtrière, Paris, France & INSERM U 974, 75013 Paris, France.
Lamari F; Department of Metabolic Biochemistry, Pitié-Salpêtrière Hospital, APHP-Sorbonne university, 75013 Paris, France.
Laforêt P; Neurology Department, Hôpital Raymond-Poincaré, AP-HP, 92380 Garches, France.
Noel E; Department of Internal Medicine, Centre Hospitalier Universitaire, 67000 Strasbourg, France.
Marret S; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
Lidove O; Department of Internal Medicine, Groupe Hospitalier Diaconesses Croix Saint Simon, & INSERM U 974, 75014 Paris, France.
Bekri S; Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
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Źródło :
Journal of clinical medicine [J Clin Med] 2020 May 02; Vol. 9 (5). Date of Electronic Publication: 2020 May 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Autorzy :
Nadjar Y; Département de neurologie, centre de référence des maladies lysosomales, UF neuro-génétique et métabolisme, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France. Electronic address: .
Souvannanorath S; Centre de référence des maladies neuromusculaires, hôpital Henri-Mondor, Assistance publique-Hôpitaux de Pars, Créteil, France. Electronic address: .
Maisonobe T; Département de neurophysiologie clinique, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France. Electronic address: .
Brisset M; Département de neurologie, hôpital Raymond-Poincaré, Garches, France; Inserm U1179 Versailles Saint-Quentin-en-Yvelines university, 78180 Montigny-le-Bretonneux, France. Electronic address: .
De Lonlay P; Reference center for inborn errors of metabolism, Necker-Enfants-Malades university hospital, AP-HP, Paris Descartes university, INSERM UMR_S1151, 75015 Paris, France. Electronic address: .
Schiff M; Reference center for inborn errors of metabolism, Robert-Debré university hospital, AP-HP, Paris Diderot university, INSERM U1141, 75019 Paris, France. Electronic address: .
Viala K; Département de neurophysiologie clinique, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France. Electronic address: .
Boutron A; Service de biochimie, hôpital de Bicêtre, CHU Paris - GH Paris-Sud, Paris, France. Electronic address: .
Nicolas G; Département de neurologie, hôpital Raymond-Poincaré, Garches, France; Inserm U1179 Versailles Saint-Quentin-en-Yvelines university, 78180 Montigny-le-Bretonneux, France. Electronic address: .
Laforêt P; Département de neurologie, hôpital Raymond-Poincaré, Garches, France; Inserm U1179 Versailles Saint-Quentin-en-Yvelines university, 78180 Montigny-le-Bretonneux, France. Electronic address: pascal.laforet@aphp.fr.
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Źródło :
Revue neurologique [Rev Neurol (Paris)] 2020 May; Vol. 176 (5), pp. 380-386. Date of Electronic Publication: 2020 Apr 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cardiomyopathies/*complications
Cardiomyopathies/*diagnosis
Lipid Metabolism, Inborn Errors/*complications
Lipid Metabolism, Inborn Errors/*diagnosis
Mitochondrial Myopathies/*complications
Mitochondrial Myopathies/*diagnosis
Mitochondrial Trifunctional Protein/*deficiency
Nervous System Diseases/*complications
Nervous System Diseases/*diagnosis
Peripheral Nervous System Diseases/*diagnosis
Peripheral Nervous System Diseases/*etiology
Rhabdomyolysis/*complications
Rhabdomyolysis/*diagnosis
Adult ; Age Factors ; Cardiomyopathies/pathology ; Female ; Humans ; Lipid Metabolism, Inborn Errors/pathology ; Male ; Middle Aged ; Mitochondrial Myopathies/pathology ; Nervous System Diseases/pathology ; Peripheral Nervous System Diseases/pathology ; Phenotype ; Rhabdomyolysis/pathology ; Young Adult
SCR Disease Name :
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Czasopismo naukowe
Tytuł :
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.
Autorzy :
Piraud M; Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Service de Biochimie et Biologie Moléculaire Grand-Est, Hospices Civils de Lyon, Bron, France.
Pettazzoni M; Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Service de Biochimie et Biologie Moléculaire Grand-Est, Hospices Civils de Lyon, Bron, France.
de Antonio M; Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
Vianey-Saban C; Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Service de Biochimie et Biologie Moléculaire Grand-Est, Hospices Civils de Lyon, Bron, France.
Froissart R; Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Service de Biochimie et Biologie Moléculaire Grand-Est, Hospices Civils de Lyon, Bron, France.
Chabrol B; Département de Neuropédiatrie, Hôpital de la Timone, Marseille,France.
Young S; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Laforêt P; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380 Garches, France.; INSERM U1179, END-ICAP, équipe Biothérapies des Maladies du Système Neuromusculaire, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
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Corporate Authors :
French Pompe study group
Źródło :
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 May 01; Vol. 23, pp. 100583. Date of Electronic Publication: 2020 May 01 (Print Publication: 2020).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Autorzy :
Chong-Nguyen C; Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Stalens C; Paris Cardiovascular Research Centre (Inserm U970), Paris, France.; Medical Affairs Department, AFM-Telethon, Paris, France.
Goursot Y; Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Bougouin W; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris, France.; Paris Cardiovascular Research Centre (PARCC), INSERM Unit 970, Paris, France.
Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Mochel F; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.; Genetics Department, INSERM UMR S975, CNRS UMR7225, ICM, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.
Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Eymard B; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Duboc D; Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Laforêt P; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Wahbi K; Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 478-485. Date of Electronic Publication: 2019 Dec 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Autorzy :
Papadopoulos C; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Behin A; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Bougouin W; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.; Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris, France.
Stojkovic T; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Leonard-Louis S; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Berber N; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Lombès A; INSERM, UMRS 975, APHP, Cochin Hospital, Paris, France.
Duboc D; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Jardel C; Biochemistry Department and Genetic Center, APHP, Pitié-Salpêtrière Hospital, Paris, France.; Inserm U 1016, CNRS UMR 8104, Institut Cochin, Paris, France.; GRC-UPMC Neuro-métabolisme, Université Pierre et Marie Curie, Paris, France.
Eymard B; APHP, Pitié-Salpêtrère Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Laforêt P; APHP, Raymond-Poincaré Teaching Hospital, Neurology department, Nord/Est/Ile de France Neuromuscular Reference Center, Garches, France.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 459-466. Date of Electronic Publication: 2019 Nov 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Ganglionopathies Associated with MERRF Syndrome: An Original Report.
Autorzy :
Michaud M; Department of Neurology, Central Hospital, Neuromuscular Reference Center Nord/Est/Ile de France, Nancy, France.
Stojkovic T; Institute of Myology, Neuromuscular Reference Center Nord/Est/Ile de France, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Maisonobe T; Department of Neurophysiology and Neuropathology, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Behin A; Institute of Myology, Neuromuscular Reference Center Nord/Est/Ile de France, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Rucheton B; Department of Metabolic Biochemistry, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Léonard-Louis S; Institute of Myology, Neuromuscular Reference Center Nord/Est/Ile de France, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Eymard B; Institute of Myology, Neuromuscular Reference Center Nord/Est/Ile de France, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Laforêt P; Department of Neurology, Neuromuscular Reference Center Nord/Est/Ile de France, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, Paris Saclay University, France.; INSERM U1179, END-ICAP Versailles Saint-Quentin-en-Yvelines University.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (4), pp. 419-423.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Autorzy :
Barp A; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy. .; APHP, G-H Pitié-Salpêtrière, Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Paris Est, Paris, France. .
Laforet P; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
Bello L; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Tasca G; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
Monforte M; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Ricci E; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Choumert A; Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhônes-Alpes CHU, La Réunion, France.
Stojkovic T; APHP, G-H Pitié-Salpêtrière, Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Paris Est, Paris, France.
Malfatti E; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
Pegoraro E; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Semplicini C; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Stramare R; Department of Medicine (DIMED), Institute of Radiology, University of Padova, Padua, Italy.
Scheidegger O; Department of Neurology, Institute for Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Haberlova J; Department of Paediatric Neurology, Charles University in Prague, Prague, Czech Republic.
Straub V; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
Løkken N; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
Diaz-Manera J; Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.
Urtizberea JA; Centre de Compétence Neuromusculaire Filnemus/APHP, Hôpital Marin, Hendaye, France.
Mercuri E; Pediatric Neurology and Nemo Clinical Centre, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario, A. Gemelli, Rome, Italy.
Kynčl M; Radiology Department, Faculty Hospital Motol, Prague, Czech Republic.
Walter MC; Friedrich-Baur Institut, Ludwig-Maximilians University Munich, Munich, Germany.
Carlier RY; APHP, Department of Radiology, Garches Neuromuscular Center (GNMH), Raymond Poincaré University Hospital (UVSQ, U 1179), Garches, France.
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Źródło :
Journal of neurology [J Neurol] 2020 Jan; Vol. 267 (1), pp. 45-56. Date of Electronic Publication: 2019 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Magnetic Resonance Imaging*
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophies, Limb-Girdle/*diagnostic imaging
Adolescent ; Adult ; Aged ; Child ; Europe ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/pathology ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Young Adult
SCR Disease Name :
Limb-girdle muscular dystrophy type 2A
Czasopismo naukowe
Tytuł :
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Autorzy :
Vázquez J; Department of Medical Genetics, National Rehabilitation Institute, 'Luis Guillermo Ibarra Ibarra', México.; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
Lefeuvre C; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
Escobar RE; Department of Electromyography and Muscle Dystrophies, National Rehabilitation Institute, 'Luis Guillermo Ibarra Ibarra', México.
Luna Angulo AB; Department of Neurosciences, National Rehabilitation Institute, 'Luis Guillermobarra Ibarra', México.
Miranda Duarte A; Department of Medical Genetics, National Rehabilitation Institute, 'Luis Guillermo Ibarra Ibarra', México.
Delia Hernandez A; Department of Pathology, National Rehabilitation Institute, 'Luis Guillermo Ibarra Ibarra', México.
Brisset M; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
Carlier RY; APHP, GH U. Paris Saclay, DMU Smart Imaging, Department of Radiology, Raymond Poincaré teaching Hospital, 104 Bld R. Poincaré, 92380 Garches, France; U 1179 INSERM, Université Paris-Saclay.
Leturcq F; APHP, Department of Genetics, Cochin Hospital, Paris, France.
Durand-Canard MC; APHP, Service of Physiological Explorations Raymond Poincaré Hospital, 104 Bld Raymond Poincaré, 92380 Garches, France.
Nicolas G; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
Laforet P; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
Malfatti E; APHP, Department of Neurology, Raymond Poincaré Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (4), pp. 443-451.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Autorzy :
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. .
van der Bilt RC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
IJspeert J; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboudumc, PO Box 9101, 6500, HB, Nijmegen, The Netherlands.
Hogrel JY; AP-HP; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Institut de Myology, Paris, France.
Jeanpierre M; AP-HP, Hôpital Cochin, Paris, France.
Behin A; AP-HP; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Institut de Myology, Paris, France.
Laforet P; Neurology Department, Raymond Poincaré Teaching Hospital, Nord/Est/Ile de France Neuromuscular Center, AP-HP Garches, Garches, France.; INSERM U1179, END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Stojkovic T; AP-HP; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Institut de Myology, Paris, France.
van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Padberg GW; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Sacconi S; Université Côte d'Azur, Peripheral Nervous System, Centre Hospitalier Universitaire de Nice, Muscle and ALS department, Nice, France.; Inserm CNRS, Institute for Research on Cancer and Aging of Nice (IRCAN), Université Côte d'Azur, Nice, France.
Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Eymard B; AP-HP; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Institut de Myology, Paris, France.
Bassez G; AP-HP; Centre de référence des maladies neuromusculaires Nord-Est-Ile de France, Institut de Myology, Paris, France.
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Źródło :
Journal of neurology [J Neurol] 2019 Dec; Vol. 266 (12), pp. 2987-2996. Date of Electronic Publication: 2019 Aug 31.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Disease Progression*
Dyskinesias/*physiopathology
Myotonic Dystrophy/*physiopathology
Scapula/*physiopathology
Adult ; Age of Onset ; Aged ; Dyskinesias/classification ; Dyskinesias/etiology ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral/complications ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/physiopathology ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/genetics ; Prospective Studies ; Severity of Illness Index ; Young Adult
SCR Disease Name :
Facioscapulohumeral muscular dystrophy 1a
Czasopismo naukowe
Tytuł :
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.
Autorzy :
Harlaar L; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Hogrel JY; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Perniconi B; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Kruijshaar ME; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Rizopoulos D; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Taouagh N; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Canal A; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Brusse E; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van Doorn PA; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van der Ploeg AT; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Laforêt P; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
van der Beek NAME; From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France. .
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Źródło :
Neurology [Neurology] 2019 Nov 05; Vol. 93 (19), pp. e1756-e1767. Date of Electronic Publication: 2019 Oct 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy*
Glycogen Storage Disease Type II/*drug therapy
alpha-Glucosidases/*therapeutic use
Adult ; Cohort Studies ; Female ; Follow-Up Studies ; France ; Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/physiopathology ; Humans ; Male ; Middle Aged ; Mobility Limitation ; Muscle Strength ; Muscle Weakness/etiology ; Muscle Weakness/physiopathology ; Netherlands ; Noninvasive Ventilation/statistics & numerical data ; Prospective Studies ; Randomized Controlled Trials as Topic ; Respiratory Insufficiency/etiology ; Respiratory Insufficiency/physiopathology ; Respiratory Insufficiency/therapy ; Treatment Outcome ; Vital Capacity ; Walk Test ; Wheelchairs
Czasopismo naukowe
Tytuł :
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Autorzy :
Laforêt P; APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines; Paris-Saclay, Saint-Quentin-en-Yvelines, France.
Inoue M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Goillot E; Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon-Lyon 1; Université Claude Bernard Lyon, Institut NeuroMyogène, CNRS UMR 5310 - INSERM U1217, Lyon, France.
Lefeuvre C; APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France.; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.
Cagin U; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002, Evry, France.
Streichenberger N; Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon-Lyon 1; Université Claude Bernard Lyon, Institut NeuroMyogène, CNRS UMR 5310 - INSERM U1217, Lyon, France.
Leonard-Louis S; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Brochier G; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Madelaine A; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Labasse C; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Hedberg-Oldfors C; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Krag T; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Jauze L; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002, Evry, France.
Fabregue J; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002, Evry, France.
Labrune P; APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, and Paris Sud University, Clamart, France.
Milisenda J; Internal Medicine Department Neuromuscular and Inherited Metabolic Disorders Research Laboratory Hospital Clínic de Barcelona, Barcelona, Spain.
Nadaj-Pakleza A; Centre de référence des maladies neuromusculaires Nord/Est/IdF, Service de Neurologie, CHU Strasbourg, Strasbourg, France.
Sacconi S; Peripheral Nervous System & Muscle Department, CHU Nice, Université Côte D'Azur, Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Faculty of Medicine, Université Côte d'Azur (UCA), Nice, France.
Mingozzi F; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002, Evry, France.
Ronzitti G; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002, Evry, France.
Petit F; Department of Genetics and Cytogenetics, AP-HP, Antoine Béclère University Hospital, University Paris Sud, Paris, France.
Schoser B; Friedrich-Baur-Institut Neurologische Klinik, München University, Munich, Germany.
Oldfors A; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Romero NB; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Université Pierre et Marie Curie- Paris 6, Centre de Recherche en Myologie, UM 76, CNRS, UMR 7215, Institut de Myologie, Paris, F-75013, France.
Nishino I; Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon-Lyon 1; Université Claude Bernard Lyon, Institut NeuroMyogène, CNRS UMR 5310 - INSERM U1217, Lyon, France.
Malfatti E; APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France. .; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France. .; U 1179 INSERM, Université Versailles Saint Quentin en Yvelines; Paris-Saclay, Saint-Quentin-en-Yvelines, France. .
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Źródło :
Acta neuropathologica communications [Acta Neuropathol Commun] 2019 Oct 28; Vol. 7 (1), pp. 167. Date of Electronic Publication: 2019 Oct 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Autophagy*
Glycogen Storage Disease Type III/*pathology
Muscle, Skeletal/*pathology
Vacuoles/*pathology
Adult ; Aged ; Aged, 80 and over ; Animals ; Biopsy ; Disease Models, Animal ; Female ; Humans ; Male ; Mice ; Middle Aged ; Muscle, Skeletal/ultrastructure
Czasopismo naukowe
Tytuł :
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.
Autorzy :
Brisset M; Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond-Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches.
Béhin A; Centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, institut de myologie, Groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
Pottier C; Service de neurologie, centre hospitalier René-Dubos, 95300 Pontoise, France.
Jardel C; UF cardiogénétique et myogénétique moléculaire et cellulaire, groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
Sharshar T; Service de réanimation, hôpital Sainte-Anne, AP-HP, 75014 Paris, France.
Mochel F; Inserm U 1127, CNRS UMR 7225, Sorbonne universités, UPMC université Paris 06 UMR S 1127, institut du cerveau et de la moelle épinière, ICM, 75013 Paris, France; Département de génétique, groupement hospitalier Pitié-Salpêtrière-Charles Foix, AP-HP, 75013 Paris, France; GRC UPMC Neurométabolique, groupement hospitalier Pitié-Salpêtrière-Charles Foix, 75013 Paris, France.
Mallard F; Service de réanimation polyvalente, centre médico-chirurgical de l'Europe, 78560 Le Port Marly, France.
Slama A; Laboratoire de Biochimie, hôpital de Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France.
Lombès A; Inserm, institut Cochin, U1016, CNRS UMR 8104, 75014 Paris, France.
Eymard B; Centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, institut de myologie, Groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
Laforêt P; Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond-Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches. Electronic address: pascal.laforet@aphp.fr.
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Źródło :
Revue neurologique [Rev Neurol (Paris)] 2019 Oct; Vol. 175 (9), pp. 564-567. Date of Electronic Publication: 2019 May 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Critical Care*
Acidosis, Lactic/*etiology
Acidosis, Lactic/*therapy
Mitochondrial Diseases/*complications
Mitochondrial Diseases/*therapy
Acidosis, Lactic/diagnosis ; Adult ; Critical Illness/therapy ; Emergencies ; Female ; Humans ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/pathology ; Retrospective Studies
Czasopismo naukowe
Tytuł :
No effect of triheptanoin on exercise performance in McArdle disease.
Autorzy :
Madsen KL; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
Laforêt P; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Hôpital Raymond-Poincaré, AP-HP, Garches, France.
Buch AE; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
Stemmerik MG; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
Ottolenghi C; Metabolomics Unit, Service des Explorations fonctionnelles, Necker Hospital and Descartes University of Paris, AP-HP, Paris, France.
Hatem SN; Institute of Cardiometabolism and Nutrition, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.; Cardiology Institute, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Raaschou-Pedersen DT; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
Poulsen NS; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
Atencio M; Inserm U 1127, CNRS UMR 7225, ICM, F-75013, Paris, France.
Luton MP; Inserm U 1127, CNRS UMR 7225, ICM, F-75013, Paris, France.
Ceccaldi A; Institute of Cardiometabolism and Nutrition, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.; Cardiology Institute, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Haller RG; Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, Texas.; Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center Dallas, Dallas, Texas.
Quinlivan R; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, England.
Mochel F; Inserm U 1127, CNRS UMR 7225, ICM, F-75013, Paris, France.; Sorbonne Université, UPMC-Paris 6, UMR S 1127, Paris, France.; Department of Genetics and Reference Center for Adult Neurometabolic diseases, La Pitié-Salpêtrière University Hospital, APHP, Paris, France.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Oct; Vol. 6 (10), pp. 1949-1960. Date of Electronic Publication: 2019 Sep 14.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Exercise Tolerance*
Outcome Assessment, Health Care*
Glycogen Storage Disease Type V/*diet therapy
Glycogen Storage Disease Type V/*metabolism
Oxygen/*metabolism
Triglycerides/*pharmacology
Adult ; Aged ; Cross-Over Studies ; Double-Blind Method ; Female ; Humans ; Male ; Middle Aged ; Triglycerides/administration & dosage ; Young Adult
Czasopismo naukowe
Tytuł :
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Autorzy :
Echaniz-Laguna A; Department of Neurology, APHP, Bicêtre University Hospital, Le Kremlin Bicêtre, France.; French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France.; INSERM U1195 & Paris-Sud University, Le Kremlin Bicêtre, France.
Nadjar Y; Neurology Department, Hôpital Pitié-Salpêtrière, Paris, France.
Béhin A; Neurology Department, Hôpital Pitié-Salpêtrière, Paris, France.
Biancalana V; Laboratoire Diagnostic Génétique, CHR, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
Piraud M; Laboratoire des Maladies Héréditaires du Métabolisme et dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
Malfatti E; Neurology Department, Hôpital Raymond Poincaré, Paris, France.
Laforêt P; Neurology Department, Hôpital Raymond Poincaré, Paris, France.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 803-808. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji :
Case Reports; Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Diseases, X-Linked/*diagnosis
Genetic Diseases, X-Linked/*genetics
Metabolism, Inborn Errors/*diagnosis
Metabolism, Inborn Errors/*genetics
Phosphoglycerate Kinase/*deficiency
Adult ; Aged ; France ; Humans ; Male ; Middle Aged ; Mutation ; Phosphoglycerate Kinase/genetics ; Retrospective Studies
SCR Disease Name :
Phosphoglycerate Kinase 1 Deficiency
Czasopismo naukowe
Tytuł :
X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.
Autorzy :
Brisset M; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France.
Ben Yaou R; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Institut de Myologie, G.H. Pitié-Salpêtrière, F-75013 Paris, France; Université Sorbonne, INSERM U974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France.
Carlier RY; APHP, Medical imaging Department, Raymond Poincaré teaching Hospital, GHU GH HUPIFO, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France.
Chanut A; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Nicolas G; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France.
Romero NB; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Institut de Myologie, G.H. Pitié-Salpêtrière, F-75013 Paris, France; Université Sorbonne, INSERM U974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Wahbi K; APHP, Department of Cardiology, Cochin Hospital, 75015 Paris, France.
Decrocq C; Department of Physiology, Foch Hospital, 40 Rue Worth, 92150 Suresnes, France.
Leturcq F; APHP, Laboratoire de Génétique et Biologie moléculaire, HUPC Cochin, Paris, France.
Laforêt P; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France.
Malfatti E; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Sep; Vol. 29 (9), pp. 678-683. Date of Electronic Publication: 2019 Jun 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Membrane Proteins/*genetics
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophy, Emery-Dreifuss/*genetics
Nuclear Proteins/*genetics
Age of Onset ; Aged ; Atrial Fibrillation/physiopathology ; Back Muscles/diagnostic imaging ; Bradycardia/physiopathology ; Contracture/physiopathology ; Deltoid Muscle/metabolism ; Deltoid Muscle/pathology ; Dyspnea/physiopathology ; Hamstring Muscles/diagnostic imaging ; Humans ; Magnetic Resonance Imaging ; Male ; Masticatory Muscles/diagnostic imaging ; Membrane Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Atrophy, Spinal/physiopathology ; Muscular Dystrophy, Emery-Dreifuss/diagnostic imaging ; Muscular Dystrophy, Emery-Dreifuss/pathology ; Muscular Dystrophy, Emery-Dreifuss/physiopathology ; Nuclear Proteins/metabolism ; Severity of Illness Index ; Spinal Curvatures/physiopathology
SCR Disease Name :
Camptocormia
Czasopismo naukowe
Tytuł :
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Autorzy :
Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), France (K.W., C. Stalens, E.J.).
Ben Yaou R; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).; Sorbonne Universités, INSERM UMRS 974, CNRS, UMR-7215, Center for Research in Myology, Myology Institute,(R.B.Y., G.B.).
Gandjbakhch E; APHP, Institute of Cardiology (E.G., X.W., P.C.).; Sorbonne Universités, UPMC Univ Paris 06, INSERM 1166, Institute of Cardiometabolism and Nutrition (ICAN), France (E.G., P.C.).; Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France† (E.G., P.C.).
Anselme F; Cardiology Department, University Hospital of Rouen, France (F.A.).
Gossios T; Inherited Cardiovascular Diseases Unit, University College London & St. Bartholomew's Hospital, United Kingdom† (T.G., K.S., P.E.).
Lakdawala NK; Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA (N.K.L., U.B.T.).; Aix Marseille University, INSERM, GMGF; Department of Medical Genetics, Childrens' Hospital La Timone, France (A.D.S.-G., N.L.).
Stalens C; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), France (K.W., C. Stalens, E.J.).; Medical Affairs Department, AFM-Telethon, Evry, France (C. Stalens).
Sacher F; Centre de reference des maladies rythmiques héréditaires, Bordeaux University Hospital (CHU), IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Univ. Bordeaux, INSERM U1045, France (F.S.).
Babuty D; Université François Rabelais, Cardiology Department, CHU Tours, France (D. Babuty).
Trochu JN; INSERM, UMR1087, Université de Nantes, L'Institut du Thorax, CHU de Nantes, CIC, Centre de référence pour la prise en charge des maladies rythmiques héréditaires de Nantes, France† (J.-N.T.).
Moubarak G; Department of Electrophysiology and Pacing, InParys Clinical Research Group, Clinique Ambroise Paré, Neuilly-sur-Seine, France (G.M.).
Savvatis K; Inherited Cardiovascular Diseases Unit, University College London & St. Bartholomew's Hospital, United Kingdom† (T.G., K.S., P.E.).; William Harvey Research Institute, Queen Mary University London, United Kingdom (K.S.).
Porcher R; APHP, Hôtel-Dieu Hospital, Centre d'Epidémiologie Clinique, INSERM U1153, Université Paris Descartes - Sorbonne Paris Cité, France (R.P.).
Laforêt P; APHP, Hôpital Raymond Poincaré, Centre de Référence des maladies neuromusculaires Nord-Est-Île de France, Garches (P.L., A.F.).
Fayssoil A; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).; APHP, Hôpital Raymond Poincaré, Centre de Référence des maladies neuromusculaires Nord-Est-Île de France, Garches (P.L., A.F.).
Marijon E; Hôpital Européen Georges Pompidou, Département de Cardiologie, Unité de Rythmologie, Paris, France (E.M.).
Stojkovic T; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Béhin A; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Leonard-Louis S; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Sole G; Centre de référence des maladies neuromusculaires AOC, Hôpital Pellegrin, CHU Bordeaux, France (G.S., X.F.).
Labombarda F; Cardiology Department, University Hospital of Caen, France (F.L.).
Richard P; APHP, UF Cardiogénétique et Myogénétique, Centre de Génétique, GH Pitié Salpêtrière, Paris, France (P.R., C.M.).
Metay C; APHP, UF Cardiogénétique et Myogénétique, Centre de Génétique, GH Pitié Salpêtrière, Paris, France (P.R., C.M.).
Quijano-Roy S; APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Réanimation et Réeducation Pediatriques, Hôpital Raymond Poincaré, Garches, France; UMR 1179 INSERM, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux (S.Q.-R., I. Dabaj).
Dabaj I; APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Réanimation et Réeducation Pediatriques, Hôpital Raymond Poincaré, Garches, France; UMR 1179 INSERM, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux (S.Q.-R., I. Dabaj).
Klug D; Cardiologie A, University Hospital, Lille, France (D.K.).
Vantyghem MC; CHU Lille, Endocrinology, Diabetology and Metabolism, Univ Lille, Inserm, UMR 1190 -Translational research in diabetes; EGID European Genomic Institute for Diabetes, France (M.-C.V.).
Chevalier P; Sorbonne Universités, UPMC Univ Paris 06, INSERM 1166, Institute of Cardiometabolism and Nutrition (ICAN), France (E.G., P.C.).; Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France† (E.G., P.C.).; Service de Cardiologie, Hôpital Est, Lyon, France† (P.C.).
Ambrosi P; Department of Cardiology, La Timone Hospital, Aix-Marseille Université, France (P.A.).
Salort E; APHM, Centre de référence des maladies neuromusculaires PACA-Réunion-Rhône Alpes, Hôpital Timone; Aix Marseille Université, Inserm UMR_S 910, GMGF, France (E.S.).
Sadoul N; Department of Cardiology, Institut Lorrain du Coeur et des Vaisseaux, CHU Nancy-Brabois, Vandoeuvre les Nancy Cedex, France (N.S.).
Waintraub X; APHP, Institute of Cardiology (E.G., X.W., P.C.).
Chikhaoui K; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Mabo P; Univ Rennes, CHU Rennes, Inserm, LTSI - UMR 1099, France (P. Mabo, R.M.).
Combes N; Département de Rythmologie, Clinique Pasteur, Toulouse, France (N.C.).
Maury P; University Hospital Rangueil, Cardiology department; Unité Inserm U1048, Toulouse, France (P. Maury).
Sellal JM; Département de Cardiologie, Centre Hospitalier Universitaire de Nancy; INSERM-IADI U1254, Vandœuvre lès-Nancy, France (J.-M.S.).
Tedrow UB; Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA (N.K.L., U.B.T.).
Kalman JM; Department of Cardiology, Division of Medicine (J.M.K., J.V.), The Royal Melbourne Hospital and University of Melbourne, Victoria, Australia.
Vohra J; Department of Cardiology, Division of Medicine (J.M.K., J.V.), The Royal Melbourne Hospital and University of Melbourne, Victoria, Australia.
Androulakis AFA; Department of Cardiology, Leiden University Medical Centre, the Netherlands (A.G.A.A., K.Z.).
Zeppenfeld K; Department of Cardiology, Leiden University Medical Centre, the Netherlands (A.G.A.A., K.Z.).
Thompson T; Department of Genetic Medicine (T.T.), The Royal Melbourne Hospital and University of Melbourne, Victoria, Australia.
Barnerias C; AP-HP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, service de neurologie pédiatrique, Hôpital Necker, GH Necker-Enfants malades, Paris, France (C.B., I. Desguerre).; Centre de référence des maladies neuromusculaires AOC, Département de Neurologie, Hôpital Purpan, CHU Toulouse, France (B.C.).
Bécane HM; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Bieth E; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France (E.B.).
Boccara F; AP-HP, Hôpitaux de l'Est Parisien, Cardiology Unit, Hôpital Saint-Antoine; Sorbonne Universités, INSERM, UMR_S 938, Paris, France (F.B.).; Hospices Civils de Lyon, Centre de référence des maladies neuromusculaires PACA-Réunion-Rhône Alpes, Service d'ENMG, Hôpital Neurologique Pierre Wertheimer, Lyon-Bron, France (F.B., P.P.).
Bonnet D; AP-HP, Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence des Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker Enfants Malades, Université Paris Descartes, Sorbonne Paris-Cité, France (D. Bonnet).
Bouhour F; AP-HP, Hôpitaux de l'Est Parisien, Cardiology Unit, Hôpital Saint-Antoine; Sorbonne Universités, INSERM, UMR_S 938, Paris, France (F.B.).
Boulé S; Hôpital privé Le Bois, Service de Cardiologie, Lille, France (S.B.).
Brehin AC; Unité de Génétique Clinique, CHU Rouen, France (A.-C.B.).
Chapon F; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de neurologie, CHU Caen; INSERM U1075, Université de Normandie, Caen, France (F.C., S.S.).
Cintas P; APHP, Institute of Cardiology (E.G., X.W., P.C.).
Cuisset JM; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Roger Salengro, CHRU Lille (J.-M.C.).
Davy JM; Service de Cardiologie, CHU Montpellier, France (J.-M.D.).
De Sandre-Giovannoli A; Aix Marseille University, INSERM, GMGF; Department of Medical Genetics, Childrens' Hospital La Timone, France (A.D.S.-G., N.L.).
Demurger F; Centre de Référence Maladies Rares CLAD-Ouest, Service de Génétique Clinique, CHU Rennes, Hôpital Sud, France (F.D., M.F.).
Desguerre I; AP-HP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, service de neurologie pédiatrique, Hôpital Necker, GH Necker-Enfants malades, Paris, France (C.B., I. Desguerre).
Dieterich K; Unité de Génétique Clinique, Hôpital Couple Enfant, CHU Grenoble, INSERM U1216, Grenoble Institut des Neurosciences Cellular Myology and Pathologies, France (K.D.).
Durigneux J; Centre de référence des maladies neuromusculaires AOC, Service de Neuropédiatrie, CHU Angers, France (J.D.).
Echaniz-Laguna A; Département de Neurologie, Hôpitaux Universitaires de Strasbourg, France (A.E.-L.).
Eschalier R; Service de cardiologie, CHU Clermont-Ferrand; CNRS équipe thérapies guidées par l'image, Institut-Pascal, France (R.E.).
Ferreiro A; Basic and Translational Myology Laboratory, UMR8251, Université Paris Diderot/CNRS, France (A.F.).
Ferrer X; Centre de référence des maladies neuromusculaires AOC, Hôpital Pellegrin, CHU Bordeaux, France (G.S., X.F.).
Francannet C; Génétique médicale, CHU Estaing, Clermond-Ferrand, France (C.F.).
Fradin M; Unité de Génétique Clinique, Hôpital Couple Enfant, CHU Grenoble, INSERM U1216, Grenoble Institut des Neurosciences Cellular Myology and Pathologies, France (K.D.).
Gaborit B; APHM, pole ENDO, Hôpital la conception; INSERM, INRA, C2VN, Aix Marseille University, France (B.G.).
Gay A; Cardio-Thoracic Surgery Unit and Pathology Department, Rouen University Hospital, France (A.G.).
Hagège A; Department of Cardiology, Assistance Publique-Hôpitaux de Paris and INSERM U970, Hôpital Européen Georges Pompidou, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, France (A.H.).
Isapof A; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de neuropédiatrie, Hôpital Trousseau, Paris, France (A.I., M. Mayer).
Jeru I; APHP, Department of Genetics (I.J., O.L., C. Vatier, C. Vigouroux), Pitié-Salpêtrière University Hospital, Paris, France.; Sorbonne University, Inserm U938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).; APHP, Saint-Antoine University Hospital, Department of Molecular Biology and Genetics, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).
Juntas Morales R; Centre de référence des maladies neuromusculaires AOC, Department of Neurology, CHU Montpellier, France (R.J.M.).
Lagrue E; CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, FILNEMUS, French neuromuscular reference centers, France (E.L.).
Lamblin N; Univ. Lille, Inserm U1167, Institut Pasteur; CHRU de Lille, Department of Cardiology, France (N.L.).
Lascols O; APHP, Department of Genetics (I.J., O.L., C. Vatier, C. Vigouroux), Pitié-Salpêtrière University Hospital, Paris, France.; Sorbonne University, Inserm U938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).; APHP, Saint-Antoine University Hospital, Department of Molecular Biology and Genetics, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).
Laugel V; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de neuropédiatrie, CHU Strasbourg, Hôpital Hautepierre, Hôpitaux Universitaires de Strasbourg, France (V.L.).
Lazarus A; InParys Clinical Research Group, Clinique Ambroise Paré, Neuilly sur Seine, France (A.L.).
Leturcq F; Cardiology Department, University Hospital of Caen, France (F.L.).; Service de Génétique, Hopital Cochin, AP-HP, Paris (F.L.).
Levy N; Aix Marseille University, INSERM, GMGF; Department of Medical Genetics, Childrens' Hospital La Timone, France (A.D.S.-G., N.L.).
Magot A; Centre de Référence des Maladies Neuromusculaires AOC, Laboratoire des Explorations Fonctionnelles, CHU de Nantes, France (A. Magot, Y.P.).
Manel V
Martins R; Univ Rennes, CHU Rennes, Inserm, LTSI - UMR 1099, France (P. Mabo, R.M.).
Mayer M; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de neuropédiatrie, Hôpital Trousseau, Paris, France (A.I., M. Mayer).
Mercier S
Meune C; APHP, UF Cardiogénétique et Myogénétique, Centre de Génétique, GH Pitié Salpêtrière, Paris, France (P.R., C.M.).
Michaud M
Minot-Myhié MC
Muchir A
Nadaj-Pakleza A
Péréon Y; Centre de Référence des Maladies Neuromusculaires AOC, Laboratoire des Explorations Fonctionnelles, CHU de Nantes, France (A. Magot, Y.P.).
Petiot P; Hospices Civils de Lyon, Centre de référence des maladies neuromusculaires PACA-Réunion-Rhône Alpes, Service d'ENMG, Hôpital Neurologique Pierre Wertheimer, Lyon-Bron, France (F.B., P.P.).
Petit F
Praline J
Rollin A
Sabouraud P
Sarret C
Schaeffer S; Centre de Référence des maladies neuromusculaires Nord/Est/Ile de France, Service de neurologie, CHU Caen; INSERM U1075, Université de Normandie, Caen, France (F.C., S.S.).
Taithe F
Tard C
Tiffreau V
Toutain A
Vatier C; APHP, Department of Genetics (I.J., O.L., C. Vatier, C. Vigouroux), Pitié-Salpêtrière University Hospital, Paris, France.; Sorbonne University, Inserm U938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).; APHP, Saint-Antoine University Hospital, Department of Molecular Biology and Genetics, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).
Walther-Louvier U
Eymard B; APHP, Centre de référence de pathologie neuromusculaire Paris-Est, FILNEMUS, Myology Institute, Neurology Department (R.B.Y., A.F., T.S., A.B., S.L.-L., K.C., H.-M.B., B.E.).
Charron P
Vigouroux C; APHP, Department of Genetics (I.J., O.L., C. Vatier, C. Vigouroux), Pitié-Salpêtrière University Hospital, Paris, France.; Sorbonne University, Inserm U938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).; APHP, Saint-Antoine University Hospital, Department of Molecular Biology and Genetics, Paris, France (I.J., O.L., C. Vatier, C. Vigouroux).
Bonne G; Sorbonne Universités, INSERM UMRS 974, CNRS, UMR-7215, Center for Research in Myology, Myology Institute,(R.B.Y., G.B.).
Kumar S
Elliott P; Inherited Cardiovascular Diseases Unit, University College London & St. Bartholomew's Hospital, United Kingdom† (T.G., K.S., P.E.).
Duboc D; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).
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Źródło :
Circulation [Circulation] 2019 Jul 23; Vol. 140 (4), pp. 293-302. Date of Electronic Publication: 2019 Jun 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathies/*complications
Defibrillators, Implantable/*adverse effects
Tachycardia, Ventricular/*etiology
Adult ; Female ; Humans ; Male ; Tachycardia, Ventricular/pathology ; Validation Studies as Topic
Czasopismo naukowe
Tytuł :
Progress and challenges of gene therapy for Pompe disease.
Autorzy :
Ronzitti G; INSERM U951 and Genethon, Evry, France.
Collaud F; INSERM U951 and Genethon, Evry, France.
Laforet P; Raymond Poincaré Teaching Hospital, APHP, Garches, France.; Nord/Est/Ile de France Neuromuscular Center, France.
Mingozzi F; Genethon and Spark Therapeutics, Philadelphia, PA, USA.
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Źródło :
Annals of translational medicine [Ann Transl Med] 2019 Jul; Vol. 7 (13), pp. 287.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Autorzy :
Svahn J; Electroneuromyography and Neuromuscular Department, Hospices Civils de Lyon, Lyon, France. Electronic address: .
Laforêt P; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Service de Neurologie, Hôpital Raymond-Poincaré, Garches, AP-HP/ INSERM U1179, END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Vial C; Electroneuromyography and Neuromuscular Department, Hospices Civils de Lyon, Lyon, France.
Streichenberger N; Department of Neuropathology, Hospices Civils de Lyon, Lyon, France.
Romero N; Myology Institute, Neuromuscular Morphology Unit, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Sorbonne Universités UPMC Univ Paris 06, Paris, France.
Bouchet-Séraphin C; APHP, Bichat Hospital, Biochemistry, Paris, France.
Bruneel A; APHP, Bichat Hospital, Biochemistry, Paris, France.
Dupré T; APHP, Bichat Hospital, Biochemistry, Paris, France.
Seta N; APHP, Bichat Hospital, Biochemistry, Paris, France.
Menassa R; Department of Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France.
Michel-Calemard L; Department of Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France.
Stojkovic T; Myology Institute, Neuromuscular Pathology Reference Center, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Sorbonne Universités UPMC Univ Paris 06, Paris, France.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Jul; Vol. 29 (7), pp. 497-502. Date of Electronic Publication: 2019 May 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cardiomyopathy, Dilated/*genetics
Mannosyltransferases/*genetics
Membrane Proteins/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Adult ; Age of Onset ; Cardiomyopathy, Dilated/complications ; Cardiomyopathy, Dilated/diagnostic imaging ; Congenital Disorders of Glycosylation/genetics ; Exons/genetics ; Genetic Variation ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal/diagnostic imaging ; Muscular Dystrophies, Limb-Girdle/complications ; Muscular Dystrophies, Limb-Girdle/diagnostic imaging ; Mutation, Missense ; Transferrin/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
Autorzy :
Tobaly D; APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.
Laforêt P; AP-HP, Service de Neurologie, Hôpital Raymond-Poincaré, Garches, France.; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France.
Perry A; Université Paris-Diderot-Sorbonne Paris Cité, UMR 1149, Paris, France.
Habes D; AP-HP, Service de pédiatrie, Hôpital Bicêtre, Kremlin-Bicêtre, France.
Labrune P; APHP, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpitaux Universitaires Paris Sud, Clamart, France.
Decostre V; AIM-Institute of Myology, Paris, France.
Masingue M; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Hôpital Pitié-Salpêtrière, APHP, Paris, France.
Petit F; APHP, Laboratoire de Génétique Moléculaire, Hôpitaux Universitaires Paris-Sud, Hôpital Antoine Béclère, Clamart, France.
Barp A; Department of Neurosciences, University of Padova, Padova, Italy.
Bello L; Department of Neurosciences, University of Padova, Padova, Italy.
Carlier P; AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France.
Carlier RY; APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France.; UMR 1179, Université Versailles Saint Quentin en Yvelines, Paris Saclay, France.
Pokaż więcej
Źródło :
Muscle & nerve [Muscle Nerve] 2019 Jul; Vol. 60 (1), pp. 72-79. Date of Electronic Publication: 2019 Apr 24.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease Type III/*diagnostic imaging
Muscle, Skeletal/*diagnostic imaging
Adolescent ; Adult ; Female ; Glycogen Storage Disease Type III/physiopathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Severity of Illness Index ; Vital Capacity ; Walk Test ; Whole Body Imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Congenital myopathies are mainly associated with a mild cardiac phenotype.
Autorzy :
Petri H; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. .
Wahbi K; APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie, Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University, 75006, Paris, France.
Witting N; Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Køber L; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Bundgaard H; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Kamoun E; Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France.
Vellieux G; Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France.
Stojkovic T; Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France.
Béhin A; Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France.
Laforet P; Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, APHP, 92380, Garches, France.; END-ICAP, INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Vissing J; Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Pokaż więcej
Źródło :
Journal of neurology [J Neurol] 2019 Jun; Vol. 266 (6), pp. 1367-1375. Date of Electronic Publication: 2019 Mar 14.
Typ publikacji :
Journal Article
MeSH Terms :
Heart Diseases/*etiology
Muscular Diseases/*complications
Muscular Diseases/*congenital
Muscular Diseases/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Echocardiography ; Electrocardiography, Ambulatory ; Female ; Follow-Up Studies ; Heart Diseases/diagnosis ; Humans ; Male ; Middle Aged ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
FSHD1 and FSHD2 form a disease continuum.
Autorzy :
Sacconi S; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy. .
Briand-Suleau A; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Gros M; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Baudoin C; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Lemmers RJLF; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Rondeau S; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Lagha N; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Nigumann P; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Cambieri C; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Puma A; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Chapon F; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Stojkovic T; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Vial C; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Bouhour F; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Cao M; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Pegoraro E; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Petiot P; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Behin A; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Marc B; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Eymard B; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Echaniz-Laguna A; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Laforet P; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Salviati L; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Jeanpierre M; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
Cristofari G; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
van der Maarel SM; From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.
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Źródło :
Neurology [Neurology] 2019 May 07; Vol. 92 (19), pp. e2273-e2285. Date of Electronic Publication: 2019 Apr 12.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Methylation*
Mutation*
Muscle Strength/*physiology
Muscular Dystrophy, Facioscapulohumeral/*diagnosis
Adult ; Alleles ; Chromosomal Proteins, Non-Histone/genetics ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/physiopathology ; Phenotype ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Autorzy :
Alonso-Jimenez A; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.
Kroon RHMJM; Rehabilitation Department, Radboud University Medical Center, Nijmegen, The Netherlands.
Alejaldre-Monforte A; Neurology Department, Hospital de Sant Joan Despí Moisès Broggi, Barcelona, Spain.
Nuñez-Peralta C; Radiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Horlings CGC; Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands.
van Engelen BGM; Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands.
Olivé M; Pathology Department (Neuropathology), Neuromuscular Disorders Unit, IDIBELL, Hospital de Bellvitge, Barcelona, Spain.
González L; Pathology Department (Neuropathology), Neuromuscular Disorders Unit, IDIBELL, Hospital de Bellvitge, Barcelona, Spain.
Verges-Gil E; Pathology Department (Neuropathology), Neuromuscular Disorders Unit, IDIBELL, Hospital de Bellvitge, Barcelona, Spain.
Paradas C; Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Márquez C; Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Garibaldi M; Neuromuscular Disorders Unit, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Ospedale Sant'Andrea, Rome, Italy.
Gallano P; Genetic Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Rodriguez MJ; Genetic Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Gonzalez-Quereda L; Genetic Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Dominguez Gonzalez C; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.; Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Fornander F; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Eisum AV; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
García-Sobrino T; Neurology Department, Hospital Clínico, Santiago de Compostela, Spain.
Pardo J; Neurology Department, Hospital Clínico, Santiago de Compostela, Spain.
García-Figueiras R; Radiology Department, Hospital Clínico, Santiago de Compostela, Spain.
Muelas N; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.; Neuromuscular Research Unit, Neurology Department, Instituto de Investigación Sanitaria la Fe, Hospital Universitari i Politécnic La Fe, Valencia, Spain.
Vilchez JJ; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.; Neuromuscular Research Unit, Neurology Department, Instituto de Investigación Sanitaria la Fe, Hospital Universitari i Politécnic La Fe, Valencia, Spain.
Kapetanovic S; Neurology Department, Hospital de Basurto, Bilbao, Spain.
Tasca G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A, Gemelli IRCCS, Roem, Italy.
Monforte M; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A, Gemelli IRCCS, Roem, Italy.; Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.
Ricci E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A, Gemelli IRCCS, Roem, Italy.; Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.
Gomez MT; Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.
Bevilacqua JA; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Programa de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Diaz-Jara J; Centro de imagenología, Hospital Clínico Universidad de Chile, Universidad de Chile, Santiago, Chile.
Zamorano II; Servicio de Neurología, Hospital de Puerto Montt, Servicio de Salud del Reloncavi, Los Lagos Region, Chile.
Carlier RY; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Laforet P; Assistance Publique des Hôpitaux de Paris (AP-HP), Service de neurologie, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Pelayo-Negro A; Neurology Department, University Hospital 'Marqués de Valdecilla (IDIVAL)', University of Cantabria, and 'Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)', Santander, Spain.
Ramos-Fransi A; Neurology Department, Hospital Germans Trias I Pujol, Barcelona, Spain.
Martínez A; Neurology Department, Hospital Galdakao, Vizkaia, Spain.
Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
Straub V; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
Gutiérrez G; Neurology Department, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain.
Stojkovic T; Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
Martín MA; Neurology Department, Complejo asistencial hospitalario de Burgos, Burgos, Spain.
Morís G; Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain.
Fernández-Torrón R; Neurology Department, Hospital Donostia, San Sebastián, Spain.; Neuromuscular Area, Neurology Service, Biodonostia Health Research Institute, Donostia University Hospital, Donostia-San Sebastián, Spain.
Lopez De Munaín A; Neurology Department, Hospital Donostia, San Sebastián, Spain.; Neuromuscular Area, Neurology Service, Biodonostia Health Research Institute, Donostia University Hospital, Donostia-San Sebastián, Spain.
Cortes-Vicente E; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Querol L; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Rojas-García R; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Illa I; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
Diaz-Manera J; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain .; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2019 May; Vol. 90 (5), pp. 576-585. Date of Electronic Publication: 2018 Dec 08.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophy, Oculopharyngeal/*diagnostic imaging
Adult ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Oculopharyngeal/complications ; Muscular Dystrophy, Oculopharyngeal/pathology ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.
Autorzy :
Fayssoil A; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.; Institut de Myologie, AP-HP, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpétriêre, Paris, France.
Nguyen LS; Center of Clinical Investigation Paris-Est, Pitié Salpetrière, APHP, ICAN, Sorbonne Université, Paris, France.
Ogna A; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Stojkovic T; Institut de Myologie, AP-HP, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpétriêre, Paris, France.
Meng P; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Mompoint D; Service de Radiologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Carlier R; Service de Radiologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Prigent H; Service de Physiologie-Explorations fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles saint Quentin en Yvelines, Garches, France.
Clair B; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Behin A; Institut de Myologie, AP-HP, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpétriêre, Paris, France.
Laforet P; Service de Neurologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Bassez G; Institut de Myologie, AP-HP, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpétriêre, Paris, France.
Crenn P; Service de médecine aigue, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Orlikowski D; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique et Innovation technologique CIC 14.29, INSERM, Garches, France.
Annane D; Service de Réanimation médicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Eymard B; Institut de Myologie, AP-HP, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpétriêre, Paris, France.
Lofaso F; Service de Physiologie-Explorations fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles saint Quentin en Yvelines, Garches, France.
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Źródło :
PloS one [PLoS One] 2019 Apr 24; Vol. 14 (4), pp. e0214288. Date of Electronic Publication: 2019 Apr 24 (Print Publication: 2019).
Typ publikacji :
Journal Article
MeSH Terms :
Pressure*
Respiration*
Ultrasonography, Doppler*
Diaphragm/*diagnostic imaging
Diaphragm/*physiopathology
Neuromuscular Diseases/*diagnostic imaging
Neuromuscular Diseases/*physiopathology
Nose/*physiopathology
Adult ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Movement ; ROC Curve ; Tidal Volume ; Time Factors ; Vital Capacity
Czasopismo naukowe
Tytuł :
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.
Autorzy :
Madsen KL; Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.
Preisler N; Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.
Buch AE; Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.
Stemmerik MG; Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.
Laforêt P; Neuromuscular Center, Department of Neurology, Neuromuscular Center Raymond-Poincaré Hospital Garches France.; INSERM U1179, END-ICAP Versailles Saint-Quentin-en-Yvelines University Montigny-le-Bretonneux France.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.
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Źródło :
JIMD reports [JIMD Rep] 2019 Mar 14; Vol. 46 (1), pp. 79-84. Date of Electronic Publication: 2019 Mar 14 (Print Publication: 2019).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
Autorzy :
Pena LDM; Duke University Medical Center, Durham, NC, USA. Electronic address: .
Barohn RJ; University of Kansas Medical Center, Kansas City, KS, USA.
Byrne BJ; University of Florida, Gainesville, FL, USA.
Desnuelle C; University Hospital of Nice, Côte d'Azur University, Nice, France.
Goker-Alpan O; O and O Alpan LLC, Fairfax, VA, USA.
Ladha S; Barrow Neurological Institute, Phoenix, AZ, USA.
Laforêt P; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie, Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Mengel KE; Villa Metabolica, Centre for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.
Pestronk A; Washington University School of Medicine, St Louis, MO, USA.
Pouget J; CHU Timone APHM, Marseille, France.
Schoser B; Friedrich-Baur-Institut, Department of Neurology Klinikum München, München, Germany.
Straub V; Newcastle University John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Trivedi J; University of Texas Southwestern Medical Center, Dallas, TX, USA.
Van Damme P; KU Leuven (Catholic University of Leuven), Department of Neurosciences, VIB - Center for Brain & Disease Research, and University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Young P; Department of Sleep Medicine and Neuromuscular Disorders, Universitätsklinikum Münster, Münster, Germany.
Kacena K; Sanofi Genzyme, Cambridge, MA, USA.
Shafi R; Sanofi Genzyme, Cambridge, MA, USA.
Thurberg BL; Sanofi Genzyme, Cambridge, MA, USA.
Culm-Merdek K; Sanofi Genzyme, Cambridge, MA, USA.
van der Ploeg AT; Erasmus Medical Center, Pompe Center, Rotterdam, The Netherlands.
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Corporate Authors :
NEO1 Investigator Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Mar; Vol. 29 (3), pp. 167-186. Date of Electronic Publication: 2018 Dec 17.
Typ publikacji :
Clinical Trial, Phase I; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Enzyme Replacement Therapy*/adverse effects
Glucan 1,4-alpha-Glucosidase/*metabolism
Glycogen Storage Disease Type II/*drug therapy
alpha-Glucosidases/*pharmacology
Adult ; Female ; Glucan 1,4-alpha-Glucosidase/pharmacology ; Glycogen/metabolism ; Glycogen Storage Disease Type II/physiopathology ; Humans ; Male ; Middle Aged ; Treatment Outcome ; alpha-Glucosidases/adverse effects ; alpha-Glucosidases/drug effects ; alpha-Glucosidases/pharmacokinetics
Czasopismo naukowe
Tytuł :
[Late-onset Pompe disease: the lessons drawn from the use of Myosime - Clinical use of innovative, repurposed or off-label therapies: a real life experience (1)].
Autorzy :
Laforêt P; Hôpital Raymond Poincaré, 104, boulevard Raymond Poincaré, 92380 Garches, France Centre de Référence des maladies neuromusculaires Nord-Est-Île de France.
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Transliterated Title :
Forme adulte de la maladie de Pompe : les leçons du Myozyme - Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (1).
Źródło :
Medecine sciences : M/S [Med Sci (Paris)] 2019 Mar; Vol. 35 Hors série n° 1, pp. 18-21. Date of Electronic Publication: 2019 Apr 03.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Drug Repositioning*
Off-Label Use*
Glycogen Storage Disease Type II/*drug therapy
Therapies, Investigational/*methods
alpha-Glucosidases/*therapeutic use
Adult ; Age of Onset ; Drugs, Investigational/therapeutic use ; Enzyme Replacement Therapy ; Glycogen Storage Disease Type II/epidemiology ; Humans ; Late Onset Disorders ; Therapies, Investigational/standards
Czasopismo naukowe
Tytuł :
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.
Autorzy :
Querin G; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France.
El Mendili MM; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; Icahn School of Medicine at Mount Sinai, Department of Neurology, New York, USA.
Lenglet T; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; APHP, Hôpital Pitié-Salpêtriere, Service d'Explorations Fonctionnelles, Paris, France.
Behin A; APHP, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.
Stojkovic T; APHP, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.
Salachas F; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France.
Devos D; Department of Neurology, ALS Centre, Lille University, INSERM UMRS_1171, University Hospital Centre, LICEND COEN Centre, Lille, France; Department of Medical Pharmacology, Lille University, INSERM UMRS_1171, University Hospital Centre, LICEND COEN Centre, Lille, France.
Le Forestier N; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Département de recherche en éthique, EA 1610: Etudes des sciences et techniques, Université Paris Sud/Paris Saclay, Paris, France.
Del Mar Amador M; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France.
Debs R; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France.
Lacomblez L; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France.
Meininger V; Hôpital des Peupliers, Ramsay Générale de Santé, F-75013 Paris, France.
Bruneteau G; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France.
Cohen-Adad J; NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, QC, Canada; Functional Neuroimaging Unit, CRIUGM, Université de Montréal, Montreal, QC, Canada.
Lehéricy S; APHP, Hôpital Pitié-Salpêtriere, Service de Neuroradiologie, Paris, France; Sorbonne Université, UMR-S975, Inserm U975, CNRS UMR7225, Centre de recherche de l'Institut du Cerveau et de la Moelle épinière - CRICM, Centre de Neuroimagerie de Recherche - CENIR, Paris, France.
Laforêt P; Neurology Department, Nord/Est/Ile de France neuromuscular center, Raymond-Poincaré Hospital, Garches, France; INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux.
Blancho S; Institut pour la Recherche sur la Moelle Epinière et l'Encéphale (IRME), Paris, France.
Benali H; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; Concordia University, PERFORM Centre, Electrical & Computer Engineering Division, Canada.
Catala M; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Sorbonne Université, CNRS UMR7622, INSERM ERL 1156, IBPS, Paris, France.
Li M; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France.
Marchand-Pauvert V; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France.
Hogrel JY; Institute of Myology, Neuromuscular Investigation Center, Paris, France.
Bede P; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Computational Neuroimaging Group, Academic Unit of Neurology, Trinity College Dublin, Ireland.
Pradat PF; Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address: .
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Źródło :
NeuroImage. Clinical [Neuroimage Clin] 2019; Vol. 21, pp. 101618. Date of Electronic Publication: 2018 Nov 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*pathology
Muscular Atrophy, Spinal/*pathology
Spinal Cord/*pathology
Spinal Muscular Atrophies of Childhood/*pathology
Adolescent ; Adult ; Aged ; Brain/diagnostic imaging ; Diffusion Tensor Imaging ; Female ; Gray Matter/diagnostic imaging ; Gray Matter/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscular Atrophy, Spinal/diagnostic imaging ; Spinal Cord/diagnostic imaging ; Spinal Muscular Atrophies of Childhood/diagnostic imaging ; White Matter/diagnostic imaging ; White Matter/pathology ; Young Adult
SCR Disease Name :
Spinal muscular atrophy 4
Czasopismo naukowe
Tytuł :
Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report.
Autorzy :
Fayssoil A; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.; Raymond Poincaré Hospital, APHP, Garches, France.
Stojkovic T; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.
Ogna A; Lausanne University Hospital, Lausanne, Switzerland.
Laforet P; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.; Raymond Poincaré Hospital, APHP, Garches, France.
Prigent H; Raymond Poincaré Hospital, APHP, Garches, France.
Lofaso F; Raymond Poincaré Hospital, APHP, Garches, France.
Orlikowski D; Raymond Poincaré Hospital, APHP, Garches, France.
Bassez G; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.
Eymard B; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.
Behin A; Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.
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Źródło :
Medicine [Medicine (Baltimore)] 2019 Jan; Vol. 98 (4), pp. e13887.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diaphragm/*pathology
Muscular Dystrophy, Facioscapulohumeral/*pathology
Diaphragm/diagnostic imaging ; Female ; Humans ; Middle Aged ; Sitting Position ; Supine Position ; Ultrasonography
Czasopismo naukowe
Tytuł :
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood.
Autorzy :
Fayssoil A; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Chaffaut C; SBIM, CHU Saint Louis, APHP, Université Paris Diderot, Paris, France.
Ogna A; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Stojkovic T; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Lamothe L; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Mompoint D; Service de Radiologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Meng P; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Prigent H; Service de Physiologie - Explorations fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles saint Quentin en Yvelines, Garches, France.
Clair B; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Behin A; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Laforet P; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Bassez G; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Carlier R; Service de Radiologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Orlikowski D; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.; Centre d'Investigation clinique et Innovation technologique CIC 14.29, INSERM, Garches, France.
Amthor H; Service de Pédiatrie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Quijano Roy S; Service de Pédiatrie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Crenn P; Service de nutrition, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
Chevret S; SBIM, CHU Saint Louis, APHP, Université Paris Diderot, Paris, France.
Eymard B; Institut de Myologie, CHU Pitié Salpetrière, Paris, France.
Lofaso F; Service de Physiologie - Explorations fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles saint Quentin en Yvelines, Garches, France.
Annane D; Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2019; Vol. 6 (1), pp. 55-64.
Typ publikacji :
Journal Article
MeSH Terms :
Ultrasonography*
Diaphragm/*diagnostic imaging
Muscular Dystrophy, Duchenne/*diagnostic imaging
Adolescent ; Adult ; Child ; Cross-Sectional Studies ; Diaphragm/growth & development ; Diaphragm/pathology ; Diaphragm/physiopathology ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Duchenne/physiopathology ; Muscular Dystrophy, Duchenne/therapy ; Organ Size ; Respiration ; Respiration, Artificial ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
Autorzy :
Mohassel P; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Landon-Cardinal O; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Foley AR; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Donkervoort S; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Pak KS; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Wahl C; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Shebert RT; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Harper A; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Fequiere P; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Meriggioli M; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Toro C; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Drachman D; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Allenbach Y; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Benveniste O; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Béhin A; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Eymard B; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Lafôret P; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Stojkovic T; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Mammen AL; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Bönnemann CG; National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
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Źródło :
Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2018 Dec 12; Vol. 6 (1), pp. e523. Date of Electronic Publication: 2018 Dec 12 (Print Publication: 2019).
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms :
Hydroxymethylglutaryl CoA Reductases/*immunology
Muscular Diseases/*diagnosis
Muscular Diseases/*immunology
Muscular Dystrophies, Limb-Girdle/*diagnosis
Muscular Dystrophies, Limb-Girdle/*immunology
Adolescent ; Adult ; Autoantibodies/immunology ; Child ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Muscular Diseases/epidemiology ; Muscular Dystrophies, Limb-Girdle/epidemiology
Czasopismo naukowe
Tytuł :
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Autorzy :
Touat M; Department of neurology, Nord-Est Ile-de-France neuromuscular center, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
Michaud M; Department of neurology, Central's hospital, 54000 Nancy, France.
Alamowitch S; Pierre and Marie Curie university, 75013 Paris, France; Department of neurology, hôpital Saint-Antoine, AP-HP, France and Sorbonne université, 75012 Paris, France.
Maisonobe T; Department of neurophysiology and neuropathology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
Acquaviva-Bourdain C; Reference center for metabolic inherited diseases, Inserm U820, Hospices civils de Lyon, 69002 Lyon, France.
Laforêt P; Department of neurology, Raymond-Poincaré hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines university, 78180 Montigny-le-Bretonneux, France. Electronic address: pascal.laforet@aphp.fr.
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Źródło :
Revue neurologique [Rev Neurol (Paris)] 2018 Dec; Vol. 174 (10), pp. 747-750. Date of Electronic Publication: 2018 Jul 30.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Brain Diseases/*diagnosis
Corpus Callosum/*pathology
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*drug therapy
Riboflavin/*therapeutic use
Adult ; Brain Diseases/etiology ; Corpus Callosum/diagnostic imaging ; Humans ; Magnetic Resonance Imaging ; Male ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/complications ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics
Raport
Tytuł :
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Autorzy :
Tordjman M; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France. .
Dabaj I; Pôle Pédiatrie, Hôpital Raymond Poincaré, Garches, France - Centre de Référence Maladies Neuromusculaires GNMH, FILNEMUS, Garches, France.
Laforet P; Département de Neurologie, Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, CHU La Pitié Salpêtrière, APHP, Paris, France.
Felter A; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Ferreiro A; Service de Génétique, Hôpital Raymond Poincaré, APHP, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Biyoukar M; Unité de Recherche Clinique, Hôpital Saint-Antoine, APHP, Paris, Hôpitaux Universitaires Est Parisien, Garches, France.
Law-Ye B; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Zanoteli E; Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil.
Castiglioni C; Neuromuscular and Motor Disorders Program Clinica Las Condes, Pediatric Neurology, Santiago, Chile.
Rendu J; Département de Biochimie, Toxicologie, Pharmacologie et Génétique Moléculaire, CHU Grenoble Alpes, Grenoble, France.
Beroud C; Département de Génétique Médicale, AP-HM, Hôpital Timone Enfants, Marseille, France.
Chamouni A; Institut Necker Enfants Malades, Inserm U1151, Paris, France.
Richard P; UF de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, CHU La Pitié Salpêtrière, APHP, Paris, France.
Mompoint D; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
Quijano-Roy S; Pôle Pédiatrie, Hôpital Raymond Poincaré, Garches, France - Centre de Référence Maladies Neuromusculaires GNMH, FILNEMUS, Garches, France.
Carlier RY; Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.
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Źródło :
European radiology [Eur Radiol] 2018 Dec; Vol. 28 (12), pp. 5293-5303. Date of Electronic Publication: 2018 May 25.
Typ publikacji :
Journal Article
MeSH Terms :
Algorithms*
Magnetic Resonance Imaging/*methods
Mallory Bodies/*pathology
Muscle Rigidity/*diagnosis
Muscle, Skeletal/*pathology
Muscular Dystrophies/*diagnosis
Scoliosis/*diagnosis
Whole Body Imaging/*methods
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Muscle Rigidity/etiology ; Muscle Rigidity/physiopathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies/physiopathology ; Retrospective Studies ; Scoliosis/physiopathology ; Severity of Illness Index ; Young Adult
SCR Disease Name :
Rigid spine syndrome
Czasopismo naukowe

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