Associated Papers
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.
Kaymak A et al.
Annals of Neurology, 2025
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.
Seefried L et al.
Molecular Biology Reports, 2024
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
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Carecchio M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia.
Weissbach A et al.
Parkinsonism & Related Disorders, 2013
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
Marelli C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
Koukouni V et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Raymond D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
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