Associated Papers
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K et al.
Clinical Genetics, 2023
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Grütz K et al.
Scientific Reports, 2017
Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder.
Bonello M et al.
Journal of the Neurological Sciences, 2014
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
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
Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia.
Foncke EM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
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
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich K et al.
Neurology, 2004
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