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Results 1 - 9 of 9 for Spinocerebellar ataxia type 6
  1. CACNA1A gene 
    ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A gene ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. ITPR1 gene 
    ... indicate that ITPR1 gene mutations that cause the spinocerebellar ataxias affect different regions of the protein than do ... and symptoms among Gillespie syndrome and the various spinocerebellar ataxias. IP3R IP3R1 Tests of ITPR1 PubMed SPINOCEREBELLAR ATAXIA ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  3. ATXN2 gene 
    ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
    https://medlineplus.gov/genetics/gene/atxn2 - Genetics
  4. TBP gene 
    ... Bidichandani SI. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun;61(6):607-10. doi: 10.1002/ana.21139. Citation ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  5. ATXN1 gene 
    ... ClinVar Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells. 2009 Jun 30;27(6):621-7. doi: 10.1007/s10059-009-0095- ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  6. TPP1 gene 
    ... Tests of TPP1 PubMed ... late infantile ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6;284(6):3985-97. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  7. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). ... 10.1016/j.parkreldis.2009.08.012. Epub 2009 Oct 6. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
  8. TWNK gene 
    ... TWNK PubMed ... encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. ABCB7 gene 
    ... cassette (ABC) transporter. ABC transporter proteins carry many types of molecules ... X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. 1998;43(2):115- ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics