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Huntington's disease like-2: review and update.
Margolis RL, Rudnicki DD, Holmes SE. Margolis RL, et al. Among authors: rudnicki dd. Acta Neurol Taiwan. 2005 Mar;14(1):1-8. Acta Neurol Taiwan. 2005. PMID: 15835282 Review.
Diced triplets expose neurons to RISC.
Rudnicki DD, Margolis RL, Pearson CE, Krzyzosiak WJ. Rudnicki DD, et al. PLoS Genet. 2012;8(2):e1002545. doi: 10.1371/journal.pgen.1002545. Epub 2012 Feb 23. PLoS Genet. 2012. PMID: 22383898 Free PMC article. No abstract available.
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Krause A, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.
29 results