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Results 1 - 10 of 10 for Spinocerebellar ataxia type 1
  1. ATXN1 gene 
    ... repeated 4 to 39 times within the gene. Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems ... ClinVar Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells. 2009 Jun 30;27(6): ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  2. ITPR1 gene 
    ... 29; SCA29 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1 SPINOCEREBELLAR ATAXIA 15; SCA15 NCBI Gene ClinVar Dentici ML, Barresi ...
    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. NOP56 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  5. TPP1 gene 
    ... Tests of TPP1 PubMed ... of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  6. CACNA1A gene 
    ... leucine at a specific location within the CaV2.1 channel. Channels with this ... Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  7. TBP gene 
    ... Health Condition CCG1 Protein ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16( ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  8. TWNK gene 
    ... TWNK PubMed ... I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). ... how to help patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009. ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
  10. 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