First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study-Reference-Cited by-同舟云学术

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First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study

Published:2020-10 Issue: Volume:79 Page:117-120
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Dávila-Ortiz de Montellano David J.,González-del Rincón María de Lourdes,Monroy-Jaramillo Nancy,Abundes-Corona Arturo,Ospina-García Natalia,Rodríguez-Violante Mayela,Leal-Ortega Roberto,Paisan-Ruiz Coro,López-López Marisol

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. Twenty years on: myoclonus-dystonia and ε-sarcoglycan — neurodevelopment, channel, and signaling dysfunction;Menozzi;Mov. Disord.,2019

2. Myoclonus-dystonia syndrome: ε-Sarcoglycan mutations and phenotype;Asmus;Ann. Neurol.,2002

3. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes;Tezenas Du Montcel;J. Med. Genet.,2006

4. Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?;Wictorin;Neurol. Neurochir. Pol.,2020

5. Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene;Thümmler;Eur. J. Paediatr. Neurol.,2009

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