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Spinocerebellar ataxia type 31
- ... channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta Neuropathol. 2010 Apr;119(4):447-64. doi: 10.1007/s00401-009-0630-0. Epub 2009 Dec 31. Citation on PubMed or Free article on PubMed ...
- Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with ...
- Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially ... s mother (maternal inheritance). SCA2 Genetic Testing Registry: Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 National Organization for ...
- ... and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: Autosomal recessive ataxia, Beauce type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed
- ... Spelbrink JN, Lonnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed Spelbrink JN, Li FY, Tiranti ...