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JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family

We report the clinical, neuropsychological, genetic and radiological features of a large five-generation African-American kindred from the southern United States presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in JPH3....

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Detalhes bibliográficos
Main Authors: Schneider, Susanne A., Marshall, Kate E., Xiao, Jianfeng, LeDoux, Mark S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370891/
https://ncbi.nlm.nih.gov/pubmed/22447335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-012-0318-9
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