Associated Papers
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
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
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ et al.
Journal of Neurology, 2014
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
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S et al.
Journal of Medical Genetics, 2006
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