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Results 1 - 10 of 14 for Spinocerebellar ataxia 7
  1. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. 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
  3. Spinocerebellar ataxia type 2 
    ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - Genetics
  4. 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
  5. Spinocerebellar ataxia type 1 
    ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008- ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  6. ATXN1 gene 
    ... ClinVar Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells. 2009 Jun 30;27(6):621-7. doi: 10.1007/s10059-009-0095-y. Epub ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  7. Infantile-onset spinocerebellar ataxia 
    ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 PubMed Finsterer J. Ataxias with ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  8. Spinocerebellar ataxia type 3 
    ... disease MJD SCA3 Genetic Testing ... current understanding and how to help patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009.08.012. ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-3 - Genetics
  9. Huntington's disease-like syndrome 
    ... LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA 17; SCA17 ... in the TBP and JPH3 genes. Brain. 2003 Jul;126(Pt 7):1599-603. doi: 10.1093/brain/awg155. Epub ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics
  10. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). ... patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009.08.012. ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
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