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Results 1 - 10 of 24 for Spinocerebellar ataxia 1
  1. Spinocerebellar ataxia type 1 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA 1; SCA1 PubMed Globas C, du Montcel ST, Baliko ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  2. 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
  3. Ataxia with oculomotor apraxia 
    ... SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: Ataxia - oculomotor apraxia type 4 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  4. 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
  5. Spinocerebellar ataxia type 2 
    ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ... Almaguer-Mederos LE, Truitz AP. Progression markers of Spinocerebellar ataxia ... up study. J Neurol Sci. 2010 Mar 15;290(1-2):22-6. doi: 10.1016/j.jns. ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - 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. Autosomal recessive cerebellar ataxia type 1 
    ... National Organization for Rare Disorders (NORD) ... Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1):93-8. ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  8. Huntington's disease-like syndrome 
    ... Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 National Organization for Rare Disorders (NORD) HUNTINGTON DISEASE-LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics
  9. NOP56 gene 
    ... repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011 Jul 15;89(1):121-30. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  10. Friedreich ataxia 
    ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia 1 Friedreich ataxia National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
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