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Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate, Gorka; Querin, Giorgia; Moore, Ursula; Behin, Anthony; Masingue, Marion; Bassez, Guillaume; Leonard-Louis, Sarah; Laforêt, Pascal; Maisonobe, Thierry; Merle, Philippe-Edouard; Spinazzi, Marco; Solé, Guilhem; Kuntzer, Thierry; Bedat-Millet, Anne-Laure; Salort-Campana, Emmanuelle; Attarian, Shahram; Péréon, Yann; Feasson, Leonard; Graveleau, Julie; Nadaj-Pakleza, Aleksandra; Leturcq, France; Gorokhova, Svetlana; Krahn, Martin; Eymard, Bruno; Straub, Volker; Evangelista, Teresinha; Stojkovic, Tanya.
Affiliation
  • Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Querin G; Plateforme I-Motion Adultes, Service de Neuromyologie, Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Moore U; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Behin A; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Masingue M; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Bassez G; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Leonard-Louis S; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Laforêt P; Nord-Est/Ile-de-France Neuromuscular Reference Center, FHU PHENIX, Neurology Department, Raymond-Poincaré Hospital, Versailles Saint-Quentin-en-Yvelines - Paris Saclay University, Garches, France.
  • Maisonobe T; Department of Clinical Neurophysiology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Merle PE; Department of Clinical Neurophysiology, Amiens University Hospital, Amiens, France.
  • Spinazzi M; Neuromuscular Reference Center, Angers University Hospital, Angers, France.
  • Solé G; Referral Center for Neuromuscular Diseases 'AOC', Nerve-Muscle Unit, Bordeaux University Hospitals (Pellegrin Hospital), Bordeaux, France.
  • Kuntzer T; Nerve-Muscle Unit, Department of Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Bedat-Millet AL; Neuromuscular Reference Center, Rouen University Hospital, Rouen, France.
  • Salort-Campana E; PACA Réunion Rhone Alpes Neuromuscular Reference Center, APHM, La Timone University Hospital, Marseille, France.
  • Attarian S; PACA Réunion Rhone Alpes Neuromuscular Reference Center, APHM, La Timone University Hospital, Marseille, France.
  • Péréon Y; Reference Center for Neuromuscular Diseases Atlantique-Occitanie-Caraïbes, Nantes University Hospital, Nantes, France.
  • Feasson L; Neuromuscular Reference Center, Unit of Myology, Inter-University Laboratory of Human Movement Biology, Saint-Etienne University Hospital, Saint-Étienne, France.
  • Graveleau J; Neuromuscular Reference Center, Saint-Nazaire Hospital, Saint-Nazaire, France.
  • Nadaj-Pakleza A; Nord-Est/Ile-de-France Neuromuscular Reference Center, Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Leturcq F; Genetics and Molecular Biology Laboratory, Cochin University Hospital, Paris, France.
  • Gorokhova S; Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille University, Marseille, France.
  • Krahn M; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.
  • Eymard B; Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille University, Marseille, France.
  • Straub V; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.
  • Evangelista T; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Eur J Neurol ; 28(6): 2092-2102, 2021 06.
Article in En | MEDLINE | ID: mdl-33715265
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / Muscle Proteins Type of study: Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2021 Type: Article Affiliation country: France
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / Muscle Proteins Type of study: Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2021 Type: Article Affiliation country: France