Associated Papers
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K et al.
Clinical Genetics, 2023
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Grütz K et al.
Scientific Reports, 2017
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Nardocci N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Esapa CT et al.
Human Molecular Genetics, 2007
Genetic heterogeneity in ten families with myoclonus-dystonia.
Schüle B et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
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