Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Wictorin K et al.
Neurologia I Neurochirurgia Polska, 2020
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S et al.
Journal of Medical Genetics, 2006
Select a paper to view details