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Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

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Title: Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Authors: Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France. gorka.fernandez@aphp.fr., Alfieri G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.; Azienda Ospedaliera Universitaria Sant'Andrea, Rome, Italy., Spinazzi M; Neuromuscular Diseases Reference Center, Neurology Department, CHU Angers, Angers, France., Ackermann-Bonan I; Nuclear Magnetic Resonance Laboratory, Institut de Myologie, Paris, France., Duval F; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France., Solé G; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France., Caillon F; Radiology Department, CHU de Nantes, Nantes, France., Mercier S; Medical Genetics Department, Neuromuscular Diseases Reference Center 'AOC', CHU Nantes, Nantes, France., Pereon Y; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France., Magot A; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France., Pegat A; Electroneuromyography and Neuromuscular Diseases Unit, PACA-Réunion-Rhône Alpes Neuromuscular Diseases Reference Center, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Lyon, France., Salort-Campana E; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France., Chabrol B; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France., Gorokhova S; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France., Krahn M; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France., Biancalana V; Diagnostic Genetics Laboratory, CRU Strasbourg, Strasbourg University, Strasbourg, France., Evangelista T; Muscle Pathology Unit, Institut de Myologie, Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris, France., Behin A; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France., Metay C; Cardiomyogenetics and Molecular and Cellular Myogenetics Unit, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, Paris, France., Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.
Source: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4008-4018. Date of Electronic Publication: 2024 Mar 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
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  Data: <searchLink fieldCode="AU" term="%22Fernández-Eulate+G%22">Fernández-Eulate G</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France. gorka.fernandez@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Alfieri+G%22">Alfieri G</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.; Azienda Ospedaliera Universitaria Sant'Andrea, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Spinazzi+M%22">Spinazzi M</searchLink>; Neuromuscular Diseases Reference Center, Neurology Department, CHU Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Ackermann-Bonan+I%22">Ackermann-Bonan I</searchLink>; Nuclear Magnetic Resonance Laboratory, Institut de Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Duval+F%22">Duval F</searchLink>; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Solé+G%22">Solé G</searchLink>; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Caillon+F%22">Caillon F</searchLink>; Radiology Department, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Medical Genetics Department, Neuromuscular Diseases Reference Center 'AOC', CHU Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pereon+Y%22">Pereon Y</searchLink>; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Magot+A%22">Magot A</searchLink>; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pegat+A%22">Pegat A</searchLink>; Electroneuromyography and Neuromuscular Diseases Unit, PACA-Réunion-Rhône Alpes Neuromuscular Diseases Reference Center, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Salort-Campana+E%22">Salort-Campana E</searchLink>; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Chabrol+B%22">Chabrol B</searchLink>; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Krahn+M%22">Krahn M</searchLink>; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Biancalana+V%22">Biancalana V</searchLink>; Diagnostic Genetics Laboratory, CRU Strasbourg, Strasbourg University, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Muscle Pathology Unit, Institut de Myologie, Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Behin+A%22">Behin A</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Metay+C%22">Metay C</searchLink>; Cardiomyogenetics and Molecular and Cellular Myogenetics Unit, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.
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