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Results 1 - 7 of 7 for Spinocerebellar ataxia type 5
  1. 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
  2. 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
  3. NOP56 gene 
    ... and genetic characterization. Brain. 2012 May;135(Pt 5):1423-35. doi: ... a type of spinocerebellar ataxia accompanied by motor neuron involvement. ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  4. TPP1 gene 
    ... AM, Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: a new rationale ... disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  5. TWNK gene 
    ... TWNK PubMed ... Epub 2008 Sep 5. Citation on PubMed Hakonen AH, Isohanni P, Paetau ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  6. CACNA1A gene 
    ... swelling and coma. More About This Health Condition ... a description of 5 families with familial hemiplegic migraine. Arch Neurol. 2003 ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  7. 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