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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 Jan 02. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
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
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 :
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; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches.; Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière.
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 :
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 :
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 :
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 :
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 :
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

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