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Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype-Genotype Correlations, and Neuropathology

INTRODUCTION: Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. The longitudinal course is unknown, and relationships between repeat expansion, clinical manifestations, and neuropathology remain uncertain. METHODS: We followe...

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Detalhes bibliográficos
Main Authors: Horton, Laura C., Frosch, Matthew P., Vangel, Mark G., Weigel-DiFranco, Carol, Berson, Eliot L., Schmahmann, Jeremy D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3562565/
https://ncbi.nlm.nih.gov/pubmed/22915085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-012-0412-4
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