Deep phenotyping of an international series of patients with late‐onset dysferlinopathy-Reference-Cited by-同舟云学术

Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Published:2021-04 Issue:6 Volume:28 Page:2092-2102
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Fernández‐Eulate Gorka¹^ORCID,Querin Giorgia²,Moore Ursula³,Behin Anthony¹,Masingue Marion¹,Bassez Guillaume¹,Leonard‐Louis Sarah¹,Laforêt Pascal⁴^ORCID,Maisonobe Thierry⁵,Merle Philippe‐Edouard⁶,Spinazzi Marco⁷,Solé Guilhem⁸,Kuntzer Thierry⁹,Bedat‐Millet Anne‐Laure¹⁰,Salort‐Campana Emmanuelle¹¹^ORCID,Attarian Shahram¹¹,Péréon Yann¹²,Feasson Leonard¹³,Graveleau Julie¹⁴,Nadaj‐Pakleza Aleksandra¹⁵,Leturcq France¹⁶,Gorokhova Svetlana¹⁷¹⁸,Krahn Martin¹⁷¹⁸,Eymard Bruno¹⁹,Straub Volker³,Evangelista Teresinha¹,Stojkovic Tanya¹^ORCID,

Affiliation:

1. Nord/Est/Ile‐de‐France Neuromuscular Reference CenterInstitute of MyologyPitié‐Salpêtrière HospitalAPHPSorbonne University Paris France

2. Plateforme I‐Motion Adultes Service de Neuromyologie Nord/Est/Ile‐de‐France Neuromuscular Reference Center Institute of Myology Pitié‐Salpêtrière Hospital APHP Sorbonne UniversityParis France

3. John Walton Muscular Dystrophy Research Centre Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK

4. 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

5. Department of Clinical NeurophysiologyPitié‐Salpêtrière HospitalAPHPSorbonne University Paris France

6. Department of Clinical Neurophysiology Amiens University Hospital Amiens France

7. Neuromuscular Reference Center Angers University Hospital Angers France

8. Referral Center for Neuromuscular Diseases ‘AOC’ Nerve‐Muscle Unit Bordeaux University Hospitals (Pellegrin Hospital) Bordeaux France

9. Nerve‐Muscle Unit Department of Neurosciences Lausanne University Hospital (CHUV) Lausanne Switzerland

10. Neuromuscular Reference Center Rouen University Hospital Rouen France

11. PACA Réunion Rhone Alpes Neuromuscular Reference Center APHM La Timone University Hospital Marseille France

12. Reference Center for Neuromuscular Diseases Atlantique‐Occitanie‐Caraïbes Nantes University Hospital Nantes France

13. Neuromuscular Reference Center Unit of Myology Inter‐University Laboratory of Human Movement Biology Saint‐Etienne University Hospital Saint‐Étienne France

14. Neuromuscular Reference Center Saint‐Nazaire Hospital Saint‐Nazaire France

15. Nord‐Est/Ile‐de‐France Neuromuscular Reference Center Department of Neurology Strasbourg University Hospital Strasbourg France

16. Genetics and Molecular Biology Laboratory Cochin University Hospital Paris France

17. Inserm U1251‐MMG Marseille Medical Genetics Aix‐Marseille University Marseille France

18. Département de Génétique Médicale Hôpital Timone Enfants APHM Marseille France

19. Nord‐Est/Ile‐de‐France Neuromuscular Reference Center Neurology Department Raymond‐Poincaré Hospital Sorbonne University Garches France

Funder

Jain Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14821

Reference40 articles.

1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

3. The Third Human FER-1-like Protein Is Highly Similar to Dysferlin

4. AHNAK a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

5. Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies

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