Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene-Reference-Cited by-同舟云学术

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Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene

Published:2005-11 Issue:5 Volume:58 Page:792-797
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Asmus Friedrich,Salih Farid,Hjermind Lena Elisabeth,Ostergaard Karen,Munz Marita,Kühn Andrea A.,Dupont Erik,Kupsch Andreas,Gasser Thomas

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference18 articles.

1. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype;Asmus;Ann Neurol,2002

2. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence;Saunders-Pullman;Neurology,2002

3. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation;Kock;Mov Disord,2004

4. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations;Hedrich;Neurology,2004

5. Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families;Han;Neurology,2003

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1. Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models;Cells;2024-09-10

2. Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia;Clinical Case Reports;2022-03

3. Dystonia;Movement Disorders in Childhood;2022

4. ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene;Molecular Neurobiology;2021-04-22

5. Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons;International Journal of Molecular Sciences;2021-03-30

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