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Tytuł :
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Autorzy :
Molenaar JP; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Verhoeven JI; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Rodenburg RJ; Department of Pediatrics, Translational Metabolic Laboratory, Radboud Center for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Erasmus CE; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Vicart S; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Behin A; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Bassez G; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Magot A; CHU Nantes, Centre de Référence Maladies Neuromusculaires AOC, Nantes, France.
Péréon Y; CHU Nantes, Centre de Référence Maladies Neuromusculaires AOC, Nantes, France.
Brandom BW; Department of Anesthesiology, Children's Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Guglielmi V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
Chevessier F; CureVac AG, Tübingen, Germany.
Mathieu J; Neuromuscular Clinic, Centre de Réadaptation en Déficience Physique de Jonquière, Jonquière, Québec, Canada.
Franques J; Centre de référence des maladies neuromusculaires et de la SLA, hôpital La Timone, AP-HM, Aix-Marseille université, avenue Jean-Moulin, Marseille, France.
Suetterlin K; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Hanna MG; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Guyant-Marechal L; Department of Neurology, Rouen University Hospital, France.
Snoeck MM; Department of Anaesthesiology, Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands.
Roberts ME; Department of Neurology, Salford Royal NHS Foundation Trust, Greater Manchester, UK.
Kuntzer T; Nerve-Muscle Unit, Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
Fernandez-Torron R; Neuromuscular Area, Biodonostia Health Research Institute, Department of Neurology, University Hospital Donostia, CIBERNED, San Sebastián, Spain.
Martínez-Arroyo A; Hospital Galdakao-Usansolo in Biscay, Basque Country, Spain.
Seeger J; Sozialpädiatrisches Zentrum Frankfurt Mitte, Neuromuskulares Zentrum, Frankfurt, Germany.
Kusters B; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Treves S; Departments of Anesthesia and Biomedicine, Basel University and Basel University Hospital, Basel, Switzerland.; Department of Life Sciences, University of Ferrara, Ferrara, Italy.
van Engelen BG; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Eymard B; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Voermans NC; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Sternberg D; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Pokaż więcej
Źródło :
Brain : a journal of neurology [Brain] 2020 Feb 01; Vol. 143 (2), pp. 452-466.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Diseases/*genetics
Mutation/*genetics
Myotonia Congenita/*genetics
Sarcoplasmic Reticulum/*metabolism
Adolescent ; Adult ; Calcium-Transporting ATPases/genetics ; Child ; Female ; Humans ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Brody myopathy
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 :
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
Autorzy :
Carvalho AAS; 1 Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC , Departamento de Neurociências, Santo André, Brazil .; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Lacene E; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Brochier G; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Labasse C; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Madelaine A; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Silva VGD; 3 Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC , Departamento de Neurociências, Santo André, Brazil .
Corazzini R; 3 Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC , Departamento de Neurociências, Santo André, Brazil .
Papadopoulos K; 4 Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière , Institut de Myologie, Paris, France .
Behin A; 4 Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière , Institut de Myologie, Paris, France .
Laforêt P; 4 Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière , Institut de Myologie, Paris, France .
Stojkovic T; 4 Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière , Institut de Myologie, Paris, France .
Eymard B; 4 Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière , Institut de Myologie, Paris, France .
Fardeau M; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
Romero N; 2 Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière , Paris, France .
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Źródło :
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2018 Jun; Vol. 22 (6), pp. 374-383.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Myopathies, Structural, Congenital/*genetics
Adolescent ; Adult ; Age of Onset ; Aged ; Cohort Studies ; Demography ; Female ; France ; Genes, Dominant ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/ultrastructure ; Myopathies, Structural, Congenital/pathology ; Retrospective Studies ; Young Adult
SCR Disease Name :
Myofibrillar Myopathy
Czasopismo naukowe
Tytuł :
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Autorzy :
Papadopoulos C; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
LaforÊt P; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Nectoux J; APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital, Paris, France.
Stojkovic T; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Wahbi K; APHP, Pitié-Salpêtrière Hospital, Myology Institute, Paris, France.
Carlier RY; Radiological Unit, Teaching Hospital R. Poincaré, University Hospital of Paris, Versailles St Quentin University, Garches, France.
Carlier PG; CEA, I2BM, MIRCen, IdM NMR Laboratory, Paris, France.
Leonard-Louis S; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Leturcq F; APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital, Paris, France.
Romero N; Laboratoire de Pathologie Musculaire Risler, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
Eymard B; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Behin A; APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
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Źródło :
Muscle & nerve [Muscle Nerve] 2017 Dec; Vol. 56 (6), pp. 1096-1100. Date of Electronic Publication: 2017 Apr 10.
Typ publikacji :
Journal Article
MeSH Terms :
Anoctamins/*genetics
Creatine Kinase/*blood
Exercise Tolerance/*physiology
Mutation/*genetics
Myalgia/*blood
Myalgia/*genetics
Adult ; Asymptomatic Diseases/epidemiology ; Cohort Studies ; Female ; Follow-Up Studies ; France/epidemiology ; Humans ; Male ; Middle Aged ; Muscle Weakness/blood ; Muscle Weakness/epidemiology ; Muscle Weakness/genetics ; Muscular Diseases/blood ; Muscular Diseases/epidemiology ; Muscular Diseases/genetics ; Myalgia/epidemiology ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Autorzy :
Biancalana V; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France. .; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France. .; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France. .; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France. .; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France. .
Scheidecker S; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
Miguet M; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
Laquerrière A; Department of Pathology, Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000, Rouen, France.
Romero NB; Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris, France.; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Stojkovic T; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Abath Neto O; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Mercier S; Service de Génétique Médicale, Unité de Génétique Clinique, CHU, Nantes, France.; Atlantic Gene Therapy Institute, University of Nantes, Nantes, France.; Centre de Référence des Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France.
Voermans N; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Tanner L; Department Clinical Genetics, University Hospital, Turku, Finland.
Rogers C; Greenwood Genetic Center, Greenwood, SC, USA.
Ollagnon-Roman E; Service de Génétique, Neurogénétique et Médecine Prédictive, Hôpital de la Croix Rousse, Lyon, France.
Roper H; Heartlands Hospital, Birmingham, UK.
Boutte C; Pôle de psychiatrie et neurologie, CHU Grenoble, Grenoble, France.
Ben-Shachar S; Sourasky Medical Center, Tel Aviv University, Tel-Aviv, Israel.
Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
Vasli N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
Schaefer E; Service de Génétique Médicale, CHU de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Laforet P; Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris, France.
Pouget J; National center of Expertise for Neuromuscular Disorders, University Hospital La Timone, APHM, Aix-Marseille University, Marseille, France.
Moerman A; Service de Génétique Clinique, CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France.
Pasquier L; Service de Génétique Clinique, CHU de Rennes, Hôpital Sud, Rennes, France.
Marcorelle P; Service anatomie et cytologie pathologique, Centre de compétence Breton des maladies neuromusculaires, CHRU Brest, Brest, France.; EA 4586 LNB, Université de Bretagne Occidentale, Brest, France.
Magot A; Centre de Référence des Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France.
Küsters B; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Streichenberger N; Hospices Civils de Lyon, Université Claude Bernard Lyon1, Institut NeuroMyogène, CNRS, UMR 5310, INSERM U1217, Lyon, France.
Tranchant C; Neurologie, CHU de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Dondaine N; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
Schneider R; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.; ICube, UMR7357, CSTB Complex Systems and Translational Bioinformatics, Faculté de Médecine, Strasbourg, France.
Gasnier C; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
Calmels N; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
Kremer V; Service cytogénétique constitutionnelle et prénatale, CHU de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Nguyen K; Department of Medical Genetics, APHM, GMGF, Timone Hospital, Aix Marseille University, Marseille, France.
Perrier J; Centre de Référence des Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Carlier P; Institut de Myologie, Laboratoire de résonnance magnétique, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris, France.
Carlier RY; Service de radiologie, Hôpital Raymond Poincaré, Garches, France.
Thompson J; ICube, UMR7357, CSTB Complex Systems and Translational Bioinformatics, Faculté de Médecine, Strasbourg, France.
Boland A; CNRGH, Institut de Biologie François Jacobs, CEA, Evry, France.
Deleuze JF; CNRGH, Institut de Biologie François Jacobs, CEA, Evry, France.
Fardeau M; Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris, France.; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Eymard B; Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris, France.
Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
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Źródło :
Acta neuropathologica [Acta Neuropathol] 2017 Dec; Vol. 134 (6), pp. 889-904. Date of Electronic Publication: 2017 Jul 06.
Typ publikacji :
Journal Article
MeSH Terms :
Heterozygote*
Mutation*
Myopathies, Structural, Congenital/*diagnosis
Protein Tyrosine Phosphatases, Non-Receptor/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cohort Studies ; Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Myopathies, Structural, Congenital/physiopathology ; Phenotype ; Protein Tyrosine Phosphatases, Non-Receptor/metabolism ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Autorzy :
Cerino M; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
Gorokhova S; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.
Laforet P; APHP, G.H. Pitié Salpêtrière, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Paris, France.
Ben Yaou R; APHP, G.H. Pitié Salpêtrière, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Paris, France.; Sorbonne Universités, UPMC University of Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, Paris, France.
Salort-Campana E; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital La Timone, Centre de Référence des Maladies Neuromusculaires et de la SLA, Marseille, France.
Pouget J; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital La Timone, Centre de Référence des Maladies Neuromusculaires et de la SLA, Marseille, France.
Attarian S; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital La Timone, Centre de Référence des Maladies Neuromusculaires et de la SLA, Marseille, France.
Eymard B; APHP, G.H. Pitié Salpêtrière, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Paris, France.
Deleuze JF; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
Boland A; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
Behin A; APHP, G.H. Pitié Salpêtrière, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Paris, France.
Stojkovic T; APHP, G.H. Pitié Salpêtrière, Centre de Référence Maladies Neuromusculaires Paris-Est, Institut de Myologie, Paris, France.
Bonne G; Sorbonne Universités, UPMC University of Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, Paris, France.
Levy N; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
Bartoli M; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
Krahn M; Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
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Źródło :
Muscle & nerve [Muscle Nerve] 2017 Nov; Vol. 56 (5), pp. 993-997. Date of Electronic Publication: 2017 Apr 07.
Typ publikacji :
Journal Article
MeSH Terms :
Multienzyme Complexes/*genetics
Mutation/*genetics
Myositis, Inclusion Body/*genetics
Adolescent ; Adult ; Cohort Studies ; DNA Mutational Analysis ; Exome ; Female ; France ; Humans ; Male ; Middle Aged ; Phenotype
Czasopismo naukowe
Tytuł :
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Autorzy :
Echaniz-Laguna A; Department of Neurology, Neuromuscular Disease Centre (CERNEST), Strasbourg University Hospital, Strasbourg, France.
Geuens T; Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Petiot P; Neuromuscular Disease Centre, Lyon University Hospital, Lyon, France.
Péréon Y; Neuromuscular Disease Centre, Nantes University Hospital, Nantes, France.
Adriaenssens E; Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Haidar M; Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Capponi S; Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Maisonobe T; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
Fournier E; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
Dubourg O; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
Degos B; APHP, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France.
Salachas F; APHP, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France.
Lenglet T; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
Eymard B; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
Delmont E; Neuromuscular Disease Centre, Nice University Hospital, Nice, France.
Pouget J; Neuromuscular Disease Centre, Marseille University Hospital, APHM, Marseille, France.
Juntas Morales R; Neuromuscular Disease Centre, Montpellier University Hospital, Montpellier, France.
Goizet C; Department of Genetics, Bordeaux University Hospital, Bordeaux, France.
Latour P; Biology and Pathology Department, Lyon University Hospital, Bron, France.
Timmerman V; Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Stojkovic T; Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
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Źródło :
Human mutation [Hum Mutat] 2017 May; Vol. 38 (5), pp. 556-568. Date of Electronic Publication: 2017 Feb 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Association Studies*
Mutation*
Heat-Shock Proteins, Small/*genetics
Adolescent ; Adult ; Alleles ; Amino Acid Substitution ; Biomarkers ; Cell Line ; Child ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; HSP27 Heat-Shock Proteins/genetics ; Heat-Shock Proteins/genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Molecular Chaperones ; Motor Neuron Disease/diagnosis ; Motor Neuron Disease/genetics ; Multigene Family ; Phenotype ; Protein-Serine-Threonine Kinases/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Autorzy :
Fayssoil A; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; AP-HP, Raymond Poincaré Hospital, Versailles Saint-Quentin en Yvelines University, Garches, France.
Laforêt P; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Myology Institute, Pitié-Salpêtrière Hospital, Pierre et Marie Curie Paris 6 University, Paris, France.
Bougouin W; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.; Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris, France.
Jardel C; Biochemistry Department, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; INSERM U1016, CNRS UMR 8104, Institut Cochin, Paris, France.
Lombès A; Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; INSERM U1016, CNRS UMR 8104, Institut Cochin, Paris, France.
Bécane HM; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Eymard B; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Myology Institute, Pitié-Salpêtrière Hospital, Pierre et Marie Curie Paris 6 University, Paris, France.
Duboc D; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; Department of Cardiology, AP-HP, Cochin Hospital, Paris Descartes University, Paris, France.
Wahbi K; AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; Department of Cardiology, AP-HP, Cochin Hospital, Paris Descartes University, Paris, France.
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Źródło :
European journal of neurology [Eur J Neurol] 2017 Feb; Vol. 24 (2), pp. 255-261. Date of Electronic Publication: 2016 Nov 21.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
DNA, Mitochondrial/*genetics
MELAS Syndrome/*genetics
Adult ; Female ; Humans ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Syndrome
Czasopismo naukowe
Tytuł :
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Autorzy :
Bauché S; 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.
O'Regan S; Membrane transport group, Neurophotonics Laboratory, CNRS UMR8250, Sorbonne Paris Cité-Paris Descartes University, 75005 Paris, France.
Azuma Y; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Laffargue F; Service de Génétique Médicale, Centre de référence Auvergne-Limousin, Neuropathies Périphériques Rares et Maladies Neuromusculaires, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France.
McMacken G; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Sternberg D; 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; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
Brochier G; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France.
Buon C; 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.
Bouzidi N; 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.
Topf A; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Lacène E; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France.
Remerand G; Service de Néonatologie, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Beaufrere AM; Service d'Anatomie et Cytologie pathologiques, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Pebrel-Richard C; Service de Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Thevenon J; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
El Chehadeh-Djebbar S; Service de génétique médicale, Institut de génétique médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, France.
Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Duffourd Y; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Ricci F; Center for Neuromuscular Diseases, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, and Department of Neurosciences, University of Torino, 10124 Torino, Italy.
Mongini T; Center for Neuromuscular Diseases, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, and Department of Neurosciences, University of Torino, 10124 Torino, Italy.
Fiorillo C; Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56018 Pisa, Italy.
Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, 56018 Pisa, Italy.
Burloiu CM; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania.
Butoianu N; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania.
Sandu C; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania.
Servais L; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France.
Bonne G; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France.
Nelson I; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France.
Desguerre I; Centre de Référence des Maladies Neuromusculaires de l'Ouest Parisien, Hôpital Necker-Enfants Malades, 75743 Paris, France.
Nougues MC; Neuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, 75012 Paris, France.
Bœuf B; Service de réanimation néonatale et pédiatrique Hôpital Estaing CHU de Clermont Ferrand, 63000 Clermont-Ferrand, France.
Romero N; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France.
Laporte J; Departement Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, Inserm U 964, 67404 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France.
Boland A; Centre National de Génotypage (CNG), 91057 Evry, France.
Lechner D; Centre National de Génotypage (CNG), 91057 Evry, France.
Deleuze JF; Centre National de Génotypage (CNG), 91057 Evry, France.
Fontaine B; 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; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
Strochlic L; 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.
Lochmuller H; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Eymard B; 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; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France.
Mayer M; Neuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, 75012 Paris, France.
Nicole S; 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. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Sep 01; Vol. 99 (3), pp. 753-761. Date of Electronic Publication: 2016 Aug 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Apnea/*genetics
Mutation/*genetics
Myasthenia Gravis/*genetics
Presynaptic Terminals/*metabolism
Symporters/*genetics
Symporters/*metabolism
Adolescent ; Apnea/complications ; Apnea/metabolism ; Apnea/pathology ; Arthrogryposis/complications ; Arthrogryposis/genetics ; Butyrylcholinesterase/metabolism ; Child ; Child, Preschool ; Cholinergic Neurons/metabolism ; Cholinergic Neurons/pathology ; DNA Mutational Analysis ; Exome/genetics ; Female ; Genes, Recessive/genetics ; HEK293 Cells ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Muscle Hypotonia/genetics ; Muscle Weakness/complications ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Mutation, Missense/genetics ; Myasthenia Gravis/complications ; Myasthenia Gravis/metabolism ; Myasthenia Gravis/pathology ; Neuromuscular Junction/enzymology ; Neuromuscular Junction/metabolism ; Neuromuscular Junction/pathology ; Presynaptic Terminals/pathology ; Symporters/deficiency ; Synaptic Transmission
SCR Disease Name :
Congenital myasthenic syndrome with episodic apnea
Czasopismo naukowe
Tytuł :
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Autorzy :
Habbout K; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Poulin H; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Rivier F; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Giuliano S; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Sternberg D; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Fontaine B; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Eymard B; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Morales RJ; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Echenne B; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
King L; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Hanna MG; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Männikkö R; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Chahine M; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Nicole S; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.
Bendahhou S; From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK. .
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Źródło :
Neurology [Neurology] 2016 Jan 12; Vol. 86 (2), pp. 161-9. Date of Electronic Publication: 2015 Dec 11.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Mutation/*genetics
Myasthenic Syndromes, Congenital/*genetics
NAV1.4 Voltage-Gated Sodium Channel/*genetics
Paralyses, Familial Periodic/*genetics
Adult ; Female ; Humans ; Muscle Weakness/genetics ; Myasthenic Syndromes, Congenital/diagnosis ; Neuromuscular Junction/genetics ; Paralyses, Familial Periodic/diagnosis ; Patch-Clamp Techniques/methods
Czasopismo naukowe
Tytuł :
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.
Autorzy :
Wahbi K; Cardiology Department, AP-HP, Cochin Hospital, 27 rue du Faubourg Saint Jacques, 75679 Paris Cedex 14, France Université Paris Descartes-Sorbonne Paris Cité, Paris, France AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France INSERM, UMRS 974, Paris 75013, France .
Bougouin W; Université Paris Descartes-Sorbonne Paris Cité, Paris, France INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris Cedex 14, France.
Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France.
Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France.
Bécane HM; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France.
Jardel C; AP-HP, Biochemistry Department, Pitié-Salpêtrière Hospital, 75651 Paris Cedex 13, France.
Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France.
Mochel F; Genetics Department, INSERM UMR S975, CNRS UMR7225, ICM, AP-HP, Pitié-Salpêtrière Hospital, 75651 Paris Cedex 13, France Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.
Lombès A; INSERM, UMRS 975, Cochin Hospital, AP-HP, Paris, France.
Eymard B; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.
Duboc D; Cardiology Department, AP-HP, Cochin Hospital, 27 rue du Faubourg Saint Jacques, 75679 Paris Cedex 14, France Université Paris Descartes-Sorbonne Paris Cité, Paris, France AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France INSERM, UMRS 974, Paris 75013, France.
Laforêt P; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.
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Źródło :
European heart journal [Eur Heart J] 2015 Nov 07; Vol. 36 (42), pp. 2886-93. Date of Electronic Publication: 2015 Jul 29.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA, Mitochondrial/*genetics
Heart Diseases/*genetics
Mitochondria, Heart/*genetics
Mitochondrial Diseases/*genetics
Mutation/*genetics
Adult ; Female ; Gene Deletion ; Heart Diseases/mortality ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Mitochondrial Diseases/mortality ; Prognosis ; Retrospective Studies ; Risk Assessment/methods ; Risk Factors
Czasopismo naukowe
Tytuł :
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Autorzy :
Böhm J; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.
Chevessier F; Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
Koch C; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.
Peche GA; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.
Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy Muscle Cell Biology Lab, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Pasanisi B; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Moroni I; Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Tasca G; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy.
Fattori F; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy.
Ricci E; Institute of Neurology, Catholic University School of Medicine, Rome, Italy.
Pénisson-Besnier I; Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France.
Nadaj-Pakleza A; Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France.
Fardeau M; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
Joshi PR; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.
Deschauer M; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.
Romero NB; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
Eymard B; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Laporte J; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.
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Źródło :
Journal of medical genetics [J Med Genet] 2014 Dec; Vol. 51 (12), pp. 824-33. Date of Electronic Publication: 2014 Oct 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Phenotype*
Membrane Proteins/*genetics
Muscle, Skeletal/*pathology
Myopathies, Structural, Congenital/*diagnosis
Myopathies, Structural, Congenital/*genetics
Neoplasm Proteins/*genetics
Adult ; Aged ; Amino Acid Sequence ; Animals ; Biopsy ; Calcium/metabolism ; Cell Line ; DNA Mutational Analysis ; Female ; Humans ; Male ; Membrane Proteins/chemistry ; Mice ; Models, Molecular ; Molecular Sequence Data ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/ultrastructure ; Myopathies, Structural, Congenital/metabolism ; Neoplasm Proteins/chemistry ; Pedigree ; Protein Conformation ; Sequence Alignment ; Stromal Interaction Molecule 1
Czasopismo naukowe
Tytuł :
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Autorzy :
Böhm J; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France.
Biancalana V; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France 6 Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, 67000 Strasbourg, France.
Malfatti E; 7 Université Paris 6 UM76, Inserm UMR 974, CNRS UMR 7215, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France 8 Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France 9 Department of Neurological, Neurosurgical, and Behavioural Sciences, University of Siena, 53100 Siena, Italy.
Dondaine N; 6 Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, 67000 Strasbourg, France.
Koch C; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France.
Vasli N; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France.
Kress W; 10 Department of Human Genetics, Julius-Maximilian University, 97074 Würzburg, Germany.
Strittmatter M; 11 Neurology, SHG Klinikum, 66663 Merzig, Germany.
Taratuto AL; 12 Institute for Neurological Research, FLENI, C1428AQK Buenos Aires, Argentina.
Gonorazky H; 13 Hospital Italiano de Buenos Aires, C1181ACH Buenos Aires, Argentina.
Laforêt P; 8 Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Maisonobe T; 14 Laboratoire de Neuropathologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Olivé M; 15 Institut de Neuropatologia, IDIBELL-Hospital Universitari de Bellvitge, 08901 Hospitalet de Llobregat, Barcelona, Spain.
Gonzalez-Mera L; 15 Institut de Neuropatologia, IDIBELL-Hospital Universitari de Bellvitge, 08901 Hospitalet de Llobregat, Barcelona, Spain.
Fardeau M; 7 Université Paris 6 UM76, Inserm UMR 974, CNRS UMR 7215, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France 8 Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Carrière N; 16 Inserm, U929, 63000 Clermont-Ferrand, France 17 Université Clermont 1, 63000 Clermont-Ferrand, France 18 CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Clavelou P; 16 Inserm, U929, 63000 Clermont-Ferrand, France 17 Université Clermont 1, 63000 Clermont-Ferrand, France 18 CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Eymard B; 8 Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Bitoun M; 7 Université Paris 6 UM76, Inserm UMR 974, CNRS UMR 7215, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Rendu J; 19 Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, 38700 La Tronche, France.
Fauré J; 19 Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, 38700 La Tronche, France.
Weis J; 20 Institute of Neuropathology and JARA Brain Translational Medicine, RWTH Aachen University, 52062 Aachen, Germany.
Mandel JL; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France 6 Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, 67000 Strasbourg, France.
Romero NB; 7 Université Paris 6 UM76, Inserm UMR 974, CNRS UMR 7215, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France 8 Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.
Laporte J; 1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France .
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Źródło :
Brain : a journal of neurology [Brain] 2014 Dec; Vol. 137 (Pt 12), pp. 3160-70. Date of Electronic Publication: 2014 Sep 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Mutation/*genetics
Myopathies, Structural, Congenital/*genetics
Nuclear Proteins/*genetics
Tumor Suppressor Proteins/*genetics
Adult ; Age of Onset ; Dynamin II/genetics ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/metabolism
SCR Disease Name :
Myopathy, Centronuclear, Autosomal Recessive
Czasopismo naukowe
Tytuł :
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Autorzy :
Marttila M; The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland.
Lehtokari VL
Marston S
Nyman TA
Barnerias C
Beggs AH
Bertini E
Ceyhan-Birsoy O
Cintas P
Gerard M
Gilbert-Dussardier B
Hogue JS
Longman C
Eymard B
Frydman M
Kang PB
Klinge L
Kolski H
Lochmüller H
Magy L
Manel V
Mayer M
Mercuri E
North KN
Peudenier-Robert S
Pihko H
Probst FJ
Reisin R
Stewart W
Taratuto AL
de Visser M
Wilichowski E
Winer J
Nowak K
Laing NG
Winder TL
Monnier N
Clarke NF
Pelin K
Grönholm M
Wallgren-Pettersson C
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Źródło :
Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 779-90. Date of Electronic Publication: 2014 May 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Mutation*
Muscular Diseases/*congenital
Muscular Diseases/*genetics
Tropomyosin/*genetics
Actins/metabolism ; Adolescent ; Adult ; Amino Acid Sequence ; Child ; Child, Preschool ; Databases, Genetic ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Diseases/diagnosis ; Phenotype ; Phosphorylation ; Protein Binding ; Sequence Alignment ; Tropomyosin/chemistry ; Tropomyosin/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
Autorzy :
Echaniz-Laguna A; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France. .
Dubourg O; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Carlier P; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Carlier RY; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Sabouraud P; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Péréon Y; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Chapon F; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Thauvin-Robinet C; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Laforêt P; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Eymard B; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Latour P; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
Stojkovic T; From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.
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Źródło :
Neurology [Neurology] 2014 May 27; Vol. 82 (21), pp. 1919-26. Date of Electronic Publication: 2014 Apr 30.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Phenotype*
Hereditary Sensory and Autonomic Neuropathies/*genetics
Hereditary Sensory and Autonomic Neuropathies/*pathology
TRPV Cation Channels/*genetics
Adolescent ; Adult ; Aged ; Bone Diseases/pathology ; Child ; Female ; France ; Humans ; Male ; Middle Aged ; Muscles/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Atypical phenotypes in titinopathies explained by second titin mutations.
Autorzy :
Evilä A; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
Vihola A
Sarparanta J
Raheem O
Palmio J
Sandell S
Eymard B
Illa I
Rojas-Garcia R
Hankiewicz K
Negrão L
Löppönen T
Nokelainen P
Kärppä M
Penttilä S
Screen M
Suominen T
Richard I
Hackman P
Udd B
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2014 Feb; Vol. 75 (2), pp. 230-40. Date of Electronic Publication: 2014 Feb 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Connectin/*genetics
Distal Myopathies/*genetics
Distal Myopathies/*pathology
Mutation/*genetics
Adolescent ; Adult ; Aged ; Base Sequence ; European Continental Ancestry Group ; Exons/genetics ; Exons/immunology ; Family Health ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism
Czasopismo naukowe
Tytuł :
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
Autorzy :
Malfatti E; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences, University of Siena, Siena, Italy; Inserm, U974, Paris F-75013, France; Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris F-75013, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Schaeffer U
Chapon F
Yang Y
Eymard B
Xu R
Laporte J
Romero NB
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Dec; Vol. 23 (12), pp. 992-7. Date of Electronic Publication: 2013 Oct 02.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation/*genetics
Myopathies, Nemaline/*genetics
Tropomyosin/*genetics
Adult ; DNA Mutational Analysis ; Humans ; Male ; Microscopy, Electron, Transmission ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Myopathies, Nemaline/complications ; Myopathies, Nemaline/pathology ; Myopathies, Structural, Congenital/complications ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology
SCR Disease Name :
Cap Myopathy
Czasopismo naukowe
Tytuł :
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Autorzy :
Wahbi K; AP-HP, GH Pitié Salpêtrière, Centre de Référence de Pathologie neuromusculaire Paris Est, Institut de Myologie, Paris, France. />Béhin A
Bécane HM
Leturcq F
Cossée M
Laforêt P
Stojkovic T
Carlier P
Toussaint M
Gaxotte V
Cluzel P
Eymard B
Duboc D
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Źródło :
International journal of cardiology [Int J Cardiol] 2013 Sep 20; Vol. 168 (1), pp. 76-9. Date of Electronic Publication: 2012 Oct 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathy, Dilated/*diagnosis
Cardiomyopathy, Dilated/*genetics
Chloride Channels/*genetics
Mutation/*genetics
Adult ; Aged ; Anoctamins ; Cardiomyopathy, Dilated/physiopathology ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies
Czasopismo naukowe
Tytuł :
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Autorzy :
Malfatti E; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Olivé M
Taratuto AL
Richard P
Brochier G
Bitoun M
Gueneau L
Laforêt P
Stojkovic T
Maisonobe T
Monges S
Lubieniecki F
Vasquez G
Streichenberger N
Lacène E
Saccoliti M
Prudhon B
Alexianu M
Figarella-Branger D
Schessl J
Bonnemann C
Eymard B
Fardeau M
Bonne G
Romero NB
Pokaż więcej
Źródło :
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2013 Sep; Vol. 72 (9), pp. 833-45.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Intracellular Signaling Peptides and Proteins/*genetics
LIM Domain Proteins/*genetics
Muscle Proteins/*genetics
Muscle, Skeletal/*pathology
Muscular Diseases/*genetics
Muscular Diseases/*pathology
Mutation/*genetics
Adolescent ; Adult ; Autosomal Emery-Dreifuss Muscular Dystrophy ; Biopsy ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/pathology ; Child ; Connectin ; Cytoskeletal Proteins/metabolism ; DNA Mutational Analysis ; Desmin/metabolism ; Female ; Humans ; Male ; Microfilament Proteins ; Microscopy, Electron ; Middle Aged ; Muscle Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/ultrastructure ; Muscular Diseases/classification ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/pathology ; Young Adult ; alpha-Crystallin B Chain/metabolism
SCR Disease Name :
Emery-Dreifuss Muscular Dystrophy, Atypical, Autosomal Recessive
Czasopismo naukowe
Tytuł :
Pregnancy in congenital myasthenic syndrome.
Autorzy :
Servais L; Service of therapeutic trials and databases, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. />Baudoin H
Zehrouni K
Richard P
Sternberg D
Fournier E
Eymard B
Stojkovic T
Pokaż więcej
Źródło :
Journal of neurology [J Neurol] 2013 Mar; Vol. 260 (3), pp. 815-9. Date of Electronic Publication: 2012 Oct 30.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation/*genetics
Myasthenic Syndromes, Congenital/*epidemiology
Myasthenic Syndromes, Congenital/*genetics
Pregnancy Complications/*epidemiology
Pregnancy Complications/*genetics
Adult ; Cohort Studies ; Female ; Humans ; Infant, Newborn ; Middle Aged ; Myasthenic Syndromes, Congenital/diagnosis ; Pregnancy ; Pregnancy Complications/diagnosis ; Young Adult
Czasopismo naukowe

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