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Results 1 - 10 of 20 for Spinocerebellar ataxia type 1
  1. Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with ...
  2. ... 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): ...
  3. ... SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: Ataxia - oculomotor apraxia type 4 ...
  4. ... 29; SCA29 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1 SPINOCEREBELLAR ATAXIA 15; SCA15 NCBI Gene ClinVar Dentici ML, Barresi ...
  5. ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ... study. J Neurol Sci. 2010 Mar 15;290(1-2):22-6. doi: 10.1016/j.jns.2009.12.013. Epub 2010 Jan 12. Citation on PubMed
  6. ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
  7. ... 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. ...
  8. ... 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 ...
  9. ... typically repeated 3 to 14 times within intron 1. The function of this repeated hexanucleotide is unclear. NOP56 gene mutations cause spinocerebellar ataxia type 36 (SCA36), which is a condition characterized by ...
  10. ... Hanna MG. Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias. F1000 Biol Rep. 2010 Jan 18;2:4. doi: 10.3410/B2-4. Citation on PubMed or Free article on PubMed Central
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