Associated Papers
Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.
Li Z et al.
Cells, 2024
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Sperandeo A et al.
Brain : a Journal of Neurology, 2023
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K et al.
Clinical Genetics, 2023
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
Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.
Fernández-Pajarín G et al.
Acta Neurochirurgica, 2016
A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2011
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
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