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Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia
Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the ε-sarcoglycan (SGCE) gene. Work to date suggests that dystonia is cau...
Autores principales: | Sperandeo, Alessandra, Tamburini, Claudia, Noakes, Zoe, de la Fuente, Daniel Cabezas, Keefe, Francesca, Petter, Olena, Plumbly, William, Clifton, Nicholas E, Li, Meng, Peall, Kathryn J |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115238/ https://www.ncbi.nlm.nih.gov/pubmed/36204995 http://dx.doi.org/10.1093/brain/awac365 |
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