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Spinocerebellar ataxia type 14
- ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Citation ...
- ... letters GGCCTG and is typically repeated 3 to 14 times within intron 1. The function of this repeated hexanucleotide is unclear. NOP56 gene mutations cause spinocerebellar ataxia type 36 (SCA36), which is a condition characterized by ...
- Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid- ...
- ... 4 (HDL4). Sometimes, HDL4 is also known as spinocerebellar ataxia type 17 (SCA17). HDL1, HDL2, and HDL4 usually begin ... Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 Huntington disease-like 2 National Organization for ...
- ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16( ... Bidichandani SI. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun;61(6):607- ...
- ... regulating the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive ...
- ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
- ... 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, 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. ...