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Prevalence of spinocerebellar ataxia 36 in a US population

OBJECTIVE: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. METHODS: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a ter...

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Detalles Bibliográficos
Autores principales: Valera, Juliana M., Diaz, Tatyana, Petty, Lauren E., Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J., Gibbs, Richard, Lupski, James R., Geschwind, Daniel H., Perlman, Susan, Below, Jennifer E., Fogel, Brent L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515602/
https://www.ncbi.nlm.nih.gov/pubmed/28761930
http://dx.doi.org/10.1212/NXG.0000000000000174