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Spinocerebellar ataxia 17
- ... as Huntington's disease-like 4 (HDL4) or spinocerebellar ataxia type 17 (SCA17). The features of this disorder vary widely ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16(2): ...
- ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. ...