Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A et al.
Molecular Neurobiology, 2021
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Wictorin K et al.
Neurologia I Neurochirurgia Polska, 2020
Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).
Haeri G et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ et al.
Journal of Neurology, 2014
Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.
Ghosh D et al.
Journal of Child Neurology, 2013
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Carecchio M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia.
Weissbach A et al.
Parkinsonism & Related Disorders, 2013
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Peall KJ et al.
Brain : a Journal of Neurology, 2013
Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation.
Tai CH et al.
Parkinsonism & Related Disorders, 2009
"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
Asmus F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.
Hjermind LE et al.
European Journal of Neurology, 2008
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Raymond D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Asmus F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
O'Riordan S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
Grabowski M et al.
European Journal of Human Genetics : Ejhg, 2003
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Zimprich A et al.
Nature Genetics, 2001