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Results 1 - 10 of 17 for Spinocerebellar ataxia type 2
  1. Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience ... s mother (maternal inheritance). SCA2 Genetic Testing Registry: Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 National Organization for Rare ...
  2. ... hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: ...
  3. ... is repeated approximately 22 times within the gene. Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
  4. ... BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008 Nov 15; ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009- ...
  5. ... 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 ...
  6. ... doi: 10.1002/mds.25092. Epub 2012 Jul 2. Citation on PubMed
  7. ... Central Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007 Apr;4(2):285-94. doi: 10.1016/j.nurt.2007. ...
  8. ... like 1 Genetic Testing Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 National Organization for Rare Disorders (NORD) HUNTINGTON ...
  9. ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16(2):215-22. doi: 10.1038/sj.ejhg.5201954. Epub 2007 Nov 28. Citation on PubMed Rasmussen A, De Biase I, ... instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun;61(6):607- ...
  10. ... of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan). Eur J Neurol. 2014 Nov;21(11):1377-86. doi: 10.1111/ene.12491. Epub 2014 Jul 2. Citation on PubMed
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