Disease Progression in Charcot–Marie–Tooth Disease Related to <scp> <i>MPZ</i> </scp> Mutations: A Longitudinal Study-Reference-Cited by-同舟云学术

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study

Published:2022-10-28 Issue:3 Volume:93 Page:563-576
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Fridman Vera¹^ORCID,Sillau Stefan¹,Bockhorst Jacob¹,Smith Kaitlin¹,Moroni Isabella²,Pagliano Emanuela²,Pisciotta Chiara³,Piscosquito Guiseppe³⁴,Laurá Matilde⁵,Muntoni Francesco⁶,Bacon Chelsea⁷,Feely Shawna⁷⁸,Grider Tiffany⁷,Gutmann Laurie⁷,Shy Rosemary⁷⁸,Wilcox Janel⁷,Herrmann David N.⁹,Li Jun⁸¹⁰,Ramchandren Sindhu⁸¹¹¹²^ORCID,Sumner Charlotte J.¹³,Lloyd Thomas E.¹³,Day John¹⁴,Siskind Carly E.¹⁴,Yum Sabrina W.¹⁵¹⁶,Sadjadi Reza¹⁷,Finkel Richard S.¹⁸,Scherer Steven S.¹⁵,Pareyson Davide³^ORCID,Reilly Mary M.⁵,Shy Michael E.⁷⁸^ORCID,

Affiliation:

1. Department of Neurology University of Colorado Denver Aurora CO USA

2. Department of Child Neurology Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute Milan Italy

3. Department of Clinical Neurosciences Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute Milan Italy

4. Maugeri Scientific Clinical Institutes Neurorehabilitation Unit, Scientific Institute of Telese Terme Telese Terme Italy

5. Centre for Neuromuscular Diseases University College London Queen Square Institute of Neurology London UK

6. Dubowitz Neuromuscular Centre University College London Institute of Child Health and Great Ormond Street Hospital London UK

7. Department of Neurology University of Iowa Hospitals and Clinics Iowa City IA USA

8. Department of Neurology Wayne State University Detroit MI USA

9. Department of Neurology University of Rochester Rochester NY USA

10. Department of Neurology Vanderbilt University Nashville TN USA

11. Department of Neurology University of Michigan Ann Arbor MI USA

12. PRA Health Sciences Raleigh NC USA

13. Departments of Neurology and Neuroscience John Hopkins University School of Medicine Baltimore MD USA

14. Department of Neurology Stanford University Stanford CA USA

15. Department of Neurology Perelman School of Medicine, University of Pennsylvania Philadelphia PA USA

16. Department of Neurology Children's Hospital of Philadelphia Philadelphia PA USA

17. Department of Neurology Massachusetts General Hospital Boston MA USA

18. Department of Neurology Nemours Children's Hospital Orlando FL USA

Funder

Acceleron

Argenx

Fondazione Telethon

Friedreich's Ataxia Research Alliance

Medical Research Council

Muscular Dystrophy Association

National Institute of Diabetes and Digestive and Kidney Diseases

National Institute of Neurological Disorders and Stroke

Roche

Voyager Therapeutics

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26518

Reference37 articles.

1. Charcot-marie-tooth disease subtypes and genetic testing strategies

2. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

3. Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

4. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

5. Phenotypic clustering in MPZ mutations

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