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Results 1 - 10 of 18 for Spinocerebellar ataxia 6
  1. Spinocerebellar ataxia type 6 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA 6; SCA6 PubMed Casey HL, Gomez CM. Spinocerebellar Ataxia ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-6 - Genetics
  2. 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
  3. 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
  4. Spinocerebellar ataxia type 2 
    ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ... Sci. 2010 Mar 15;290(1-2):22-6. doi: 10.1016/j.jns.2009.12.013. Epub 2010 Jan 12. Citation on PubMed
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - Genetics
  5. Spinocerebellar ataxia type 1 
    ... BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008 Nov 15;23(15):2232- ... PubMed 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/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  6. 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
  7. 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
  8. 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
  9. Infantile-onset spinocerebellar ataxia 
    ... severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Citation on PubMed Lonnqvist T. Infantile-Onset Spinocerebellar Ataxia. 2009 Jan 27 [updated 2018 Apr 19]. In: ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  10. Autosomal recessive cerebellar ataxia type 1 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 PubMed Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
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