A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)-Reference-Cited by-同舟云学术

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

Published:2019-05-27 Issue: Volume: Page:
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Pareyson Davide¹,Stojkovic Tanya²,Reilly Mary M.³,Leonard‐Louis Sarah²,Laurà Matilde³,Blake Julian³⁴,Parman Yesim⁵,Battaloglu Esra⁶,Tazir Meriem⁷,Bellatache Mounia⁷,Bonello‐Palot Nathalie⁸^ORCID,Lévy Nicolas⁸,Sacconi Sabrina⁹,Guimarães‐Costa Raquel²,Attarian Sharham¹⁰,Latour Philippe¹¹,Solé Guilhem¹²,Megarbane André¹³¹⁴,Horvath Rita¹⁵¹⁶,Ricci Giulia¹⁵¹⁷,Choi Byung‐Ok¹⁸,Schenone Angelo¹⁹,Gemelli Chiara¹⁹,Geroldi Alessandro¹⁹,Sabatelli Mario²⁰²¹,Luigetti Marco²¹²²,Santoro Lucio²³,Manganelli Fiore²³,Quattrone Aldo²⁴,Valentino Paola²⁴,Murakami Tatsufumi²⁵,Scherer Steven S.²⁶,Dankwa Lois²⁶,Shy Michael E.²⁷,Bacon Chelsea J.²⁷,Herrmann David N.²⁸,Zambon Alberto²⁹,Tramacere Irene³⁰,Pisciotta Chiara¹,Magri Stefania³¹,Previtali Stefano C.²⁹^ORCID,Bolino Alessandra²⁹^ORCID

Affiliation:

1. Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical NeurosciencesFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

2. Hôpital Pitié‐Salpêtrière, AP‐HPCentre de référence des maladies neuromusculaires Nord/Est/Ile de France Paris France

3. MRC Centre for Neuromuscular DiseasesUCL Queen Square Institute of Neurology London United Kingdom

4. Department of Clinical NeurophysiologyNorfolk and Norwich University Hospital Norfolk United Kingdom

5. Istanbul University, Istanbul Faculty of MedicineNeurology Dep. Istanbul Turkey

6. Bogazici UniversityDepartment of Molecular Biology and Genetics Istanbul Turkey

7. Laboratoire de Recherche en Neurosciences Service de NeurologieCHU Alger Algeria

8. Department of Medical Genetics, Timone Hospital, Marseille, France.2Aix‐Marseille University, INSERM, MMG, U1251 Marseille France

9. Université Côte d'Azur, Service Système Nerveux Périphérique, Muscle et SLACentre Hospitalier Universitaire de Nice Nice France

10. Reference center for neuromuscular disorders and ALS, CHU La TimoneAix‐Marseille University Marseille France

11. Center of Biology and Pathology Laboratory of Molecular NeurogeneticsHospices Civils Lyon France

12. Reference center for neuromuscular disorders AOC (Atlantique Occitanie Caraibes)CHU de Bordeaux Bordeaux France

13. Institut Jérôme Lejeune Paris France

14. INOVIE Beirut Lebanon

15. Department of Clinical NeurosciencesUniversity of Cambridge Cambridge United Kingdom

16. Institute of Genetic MedicineNewcastle University Newcastle United Kingdom

17. Department of Clinical and Experimental MedicineUniversity of Pisa Pisa Italy

18. Department of Neurology, Samsung Medical CenterSungkyunkwan University School of Medicine Seoul South Korea

19. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and MATERNAL Infantile SciencesUniversity of Genoa, and IRCCS Policlinico San Martino Genoa Italy

20. Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Centro Clinico Nemo Adulti Rome Rome Italy

21. Università Cattolica del Sacro Cuore. Sede di Roma Rome Italy

22. UOC NeurologiaFondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy

23. Department of Neurosciences, Reproductive Sciences and OdontostomatologyUniversity Federico II of Naples Naples Italy

24. Department of NeurologyUniversità Magna Graecia di Catanzaro Catanzaro Italy

25. Department of NeurologyKawasaki Medical School Kurashiki Japan

26. Department of Neurology, Perelman School of MedicineUniversity of Pennsylvania Philadelphia PA

27. Department of NeurologyUniversity of Iowa Hospitals and Clinics Iowa IA

28. Department of NeurologyUniversity of Rochester Rochester NY

29. Institute of Experimental Neurology (InSpe), Division of NeuroscienceIRCCS Ospedale San Raffaele Milan Italy

30. Department of Research and Clinical Development, Scientific DirectorateFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

31. Unit of Medical Genetics and NeurogeneticsFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Funder

Friedreich's Ataxia Research Alliance

Medical Research Council

National Research Foundation of Korea

Charcot-Marie-Tooth Association

European Research Council

Muscular Dystrophy Association

Telethon Foundation

Ministry of Health, Italy

Wellcome Trust

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25500

Reference60 articles.

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