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Spinocerebellar ataxia 7
- ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the ...
- ... 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 ...
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
- ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008- ...
- ... 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 ...
- ... 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 ...
- ... 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. ...
- ... deficiency Primary CoQ10 deficiency Ubiquinone deficiency ... Acosta MJ, Vazquez Fonseca L, Desbats ...
- ... 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 ...