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Huntington disease
- ... About This Health Condition HD HD_HUMAN huntingtin (Huntington disease) Huntington's disease protein IT15 Tests of HTT ... Cattaneo E. Dysfunction of wild-type huntingtin in Huntington disease. News Physiol Sci. 2003 Feb;18:34-7. ...
- ... Gene ClinVar Anderson DG, Krause A, Margolis RL. Huntington Disease-Like 2. 2004 Jan 30 [updated 2019 Jun ... Margolis R. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African ...
- ... Karadima G, Kapaki E. From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. ... Quinn NP, Bhatia KP. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology. 2006 ...
- ... Zhang Z, Edstrom L, Anvret M, Prusiner SB. Huntington disease phenocopy is a familial prion disease. Am J ...