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Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

OBJECTIVE: To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks. METHODS: We present data on 6 patients with massive ex...

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Autors principals: Paciorkowski, A.R., Shafrir, Y., Hrivnak, J., Patterson, M.C., Tennison, M.B., Clark, H.B., Gomez, C.M.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3174070/
https://ncbi.nlm.nih.gov/pubmed/21880993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31822e5627
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