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Results 1 - 9 of 9 for Spinocerebellar ataxia type 14
  1. ... 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 ...
  2. ... 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 ...
  3. Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid- ...
  4. ... 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 ...
  5. ... 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- ...
  6. ... regulating the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive ...
  7. ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
  8. ... and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed
  9. ... 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. ...