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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: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2011
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| Matèries: | |
| 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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