ADCY5 mutations are another cause of benign hereditary chorea

OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childh...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Mencacci, Niccolo E., Erro, Roberto, Wiethoff, Sarah, Hersheson, Joshua, Ryten, Mina, Balint, Bettina, Ganos, Christos, Stamelou, Maria, Quinn, Niall, Houlden, Henry, Wood, Nicholas W., Bhatia, Kailash P.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501937/
https://ncbi.nlm.nih.gov/pubmed/26085604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001720
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