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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.
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.
Huntington's disease--like 2 can present as chorea-acanthocytosis.
Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis RL. Walker RH, et al. Neurology. 2003 Oct 14;61(7):1002-4. doi: 10.1212/01.wnl.0000085866.68470.6d. Neurology. 2003. PMID: 14557581
Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations.
Bruce HA, Sachs N, Rudnicki DD, Lin SG, Willour VL, Cowell JK, Conroy J, McQuaid DE, Rossi M, Gaile DP, Nowak NJ, Holmes SE, Sklar P, Ross CA, Delisi LE, Margolis RL. Bruce HA, et al. Among authors: rudnicki dd. Psychiatr Genet. 2009 Apr;19(2):64-71. doi: 10.1097/YPG.0b013e3283207ff6. Psychiatr Genet. 2009. PMID: 19672138 Free PMC article.
29 results