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Results 1 - 10 of 15 for Spinocerebellar ataxia type 5
  1. ... 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 ...
  2. ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
  3. ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
  4. ... Joseph disease. Neurol India. 2009 Sep-Oct;57(5):578-83. doi: 10.4103/0028-3886.57803. Citation on PubMed
  5. ... Testing Registry: Infantile onset spinocerebellar ataxia ... Finsterer J. Mitochondrial ataxias. Can J Neurol Sci. 2009 Sep;36(5):543-53. doi: 10.1017/s0317167100008027. Citation on ...
  6. ... and genetic characterization. Brain. 2012 May;135(Pt 5):1423-35. doi: ... a type of spinocerebellar ataxia accompanied by motor neuron involvement. ...
  7. ... and genetic characterization. Brain. 2012 May;135(Pt 5):1423-35. doi: ... a type of spinocerebellar ataxia accompanied by motor neuron involvement. ...
  8. ... National Organization for Rare Disorders (NORD) ... recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10. ...
  9. ... disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 ... genetically heterogeneous. Mov Disord. 2008 Apr 15;23(5):716-20. doi: 10.1002/mds.21915. Citation ...
  10. ... EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH SPINOCEREBELLAR ... with oculomotor apraxia type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j. ...
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