Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
Authors:
- 1 November 2020
- journal article
- research article
- Published by Elsevier in Parkinsonism & Related Disorders
- Vol. 80, 165-174
Abstract
No abstract availableKeywords
Funding Information
- Ministerio de Ciencia, Innovación y Universidades
This publication has 33 references indexed in Scilit:
- “Jerky” dystonia in children: Spectrum of phenotypes and genetic testingMovement Disorders, 2008
- A neurophysiological study of myoclonus in patients with DYT11 myoclonus‐dystonia syndromeMovement Disorders, 2008
- Myoclonus–dystoniaNeurology, 2008
- Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 familiesMovement Disorders, 2008
- Myoclonus-dystonia: significance of largeSGCEdeletionsHuman Mutation, 2008
- Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutationsMovement Disorders, 2008
- Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromesJournal of Medical Genetics, 2005
- Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotypeAnnals of Neurology, 2002
- The Protein Data BankNucleic Acids Research, 2000
- Alcohol‐responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variationMovement Disorders, 1990