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Results 1 - 7 of 7 for Spinocerebellar ataxia 7
  1. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the ...
    https://medlineplus.gov/genetics/gene/tpp1 - 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. 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-y. Epub ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  5. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). ... patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009.08.012. ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
  6. ABCB7 gene 
    ... Br J Haematol. 2001 Dec;115(4):910-7. doi: 10.1046/j.1365-2141.2001.03015.x. ... sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. 1998;43(2):115- ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics
  7. CACNA1A gene 
    ... swelling and coma. More About This Health Condition ... detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics