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Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with ...
- ... 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): ...
- ... SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: Ataxia - oculomotor apraxia type 4 ...
- ... 29; SCA29 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1 SPINOCEREBELLAR ATAXIA 15; SCA15 NCBI Gene ClinVar Dentici ML, Barresi ...
- ... 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
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... 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