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Dentatorubral-pallidoluysian Atrophy: An Update

BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap with other spinocerebellar ataxias. Symptoms...

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Detalles Bibliográficos
Autores principales: Carroll, Liam S., Massey, Thomas H., Wardle, Mark, Peall, Kathryn J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222020/
https://www.ncbi.nlm.nih.gov/pubmed/30410817
http://dx.doi.org/10.7916/D81N9HST