Associated Papers
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
Waite A et al.
Human Mutation, 2011
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
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