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

Gorka Fernández-Eulate; Girolamo Alfieri; Marco Spinazzi; Isabelle Ackermann-Bonan; Fanny Duval; Guilhem Solé; Florence Caillon; Sandra Mercier; Yann Pereon; Armelle Magot; Antoine Pegat; Emmanuelle Salort-Campana; Brigitte Chabrol; Svetlana Gorokhova; Martin Krahn; Valerie Biancalana; Teresinha Evangelista; Anthony Behin; Corinne Metay; Tanya Stojkovic

doi:10.1007/s00415-024-12298-0

Journal Articles Journal of Neurology Year : 2024

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

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Gorka Fernández-Eulate

Function : Author
PersonId : 805737
ORCID : 0000-0003-1112-7464

CHU Pitié-Salpêtrière [AP-HP]

Girolamo Alfieri

Function : Author

Marco Spinazzi

Function : Author

Service de neurologie [Angers]

Isabelle Ackermann-Bonan

Function : Author

Fanny Duval

Function : Author

Service de neurologie [Bordeaux]

Guilhem Solé

Function : Author

Service de neurologie [Bordeaux]

Florence Caillon

Function : Author

Centre Hospitalier Universitaire de Nantes = Nantes University Hospital

Sandra Mercier

Function : Author

Centre Hospitalier Universitaire de Nantes = Nantes University Hospital

Institut du Thorax [Nantes]

Yann Pereon

Function : Author

Hôtel-Dieu de Nantes

Nantes Université

Armelle Magot

Function : Author

Reference Centre for Neuromuscular Disorders

Hôtel-Dieu de Nantes

Antoine Pegat

Function : Author

Hospices Civils de Lyon

Institut NeuroMyoGène - Appui à la recherche

Emmanuelle Salort-Campana

Function : Author

Assistance Publique - Hôpitaux de Marseille

Aix Marseille Université

Brigitte Chabrol

Function : Author

Institut du Cerveau = Paris Brain Institute

Hôpital de la Timone [CHU - APHM]

Svetlana Gorokhova

Function : Author

Marseille medical genetics - Centre de génétique médicale de Marseille

Département de génétique médicale [Hôpital de la Timone - APHM]

Martin Krahn

Function : Author

Marseille medical genetics - Centre de génétique médicale de Marseille

Département de génétique médicale [Hôpital de la Timone - APHM]

Valerie Biancalana

Function : Author
PersonId : 1471319
IdHAL : valerie-biancalana

Institut de Génétique et de Biologie Moléculaire et Cellulaire

Teresinha Evangelista

Function : Author

Institut de Myologie

Anthony Behin

Function : Author

Centre de recherche en Myologie – U974 SU-INSERM

Corinne Metay

Function : Author

Service de Biochimie-Génétique [Béclère]

Centre de recherche en Myologie – U974 SU-INSERM

Tanya Stojkovic

Function : Author

CHU Pitié-Salpêtrière [AP-HP]

Centre de recherche en Myologie – U974 SU-INSERM

Keywords

X-linked myopathy with excessive autophagy VMA21 muscle biopsy muscle MRI X-linked myopathy with excessive autophagy VMA21 muscle biopsy muscle MRI

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Life Sciences [q-bio]

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X-Linked Myopathy with Excessive Autophagia_HAL.pdf (409.75 Ko)

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Gorka Fernandez-Eulate : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-04546595

Submitted on : Monday, April 15, 2024-12:16:45 PM

Last modification on : Thursday, December 5, 2024-12:50:48 PM

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hal-04546595 , version 1 (15-04-2024)

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HAL Id : hal-04546595 , version 1
DOI : 10.1007/s00415-024-12298-0

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Gorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, Isabelle Ackermann-Bonan, Fanny Duval, et al.. Phenotype variability and natural history of X-linked myopathy with excessive autophagy. Journal of Neurology, 2024, ⟨10.1007/s00415-024-12298-0⟩. ⟨hal-04546595⟩

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

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