Associated Papers
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Sperandeo A et al.
Brain : a Journal of Neurology, 2023
Dystonia Responding to Levodopa in A Child with Myoclonus-Dystonia.
Chang V et al.
Movement Disorders Clinical Practice, 2023
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
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