These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Homozygote of spinocerebellar Ataxia type 3 correlating with severe phenotype based on analyses of clinical features. Shang XJ; Xu HL; Yang JS; Chen PP; Lin MT; Qian MZ; Lin HX; Chen XP; Chen YC; Jiang B; Chen YJ; Chen WJ; Wang N; Zhou ZM; Gan SR J Neurol Sci; 2018 Jul; 390():111-114. PubMed ID: 29801869 [TBL] [Abstract][Full Text] [Related]
4. Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models. Graham RK; Slow EJ; Deng Y; Bissada N; Lu G; Pearson J; Shehadeh J; Leavitt BR; Raymond LA; Hayden MR Neurobiol Dis; 2006 Feb; 21(2):444-55. PubMed ID: 16230019 [TBL] [Abstract][Full Text] [Related]
5. Dominance and homozygosity. Zlotogora J Am J Med Genet; 1997 Feb; 68(4):412-6. PubMed ID: 9021013 [TBL] [Abstract][Full Text] [Related]
6. Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination. Wojaczyńska-Stanek K; Adamek D; Marszał E; Hoffman-Zacharska D J Child Neurol; 2006 Dec; 21(12):1068-73. PubMed ID: 17156701 [TBL] [Abstract][Full Text] [Related]
7. Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis. Alonso ME; Yescas P; Rasmussen A; Ochoa A; Macías R; Ruiz I; Suástegui R Clin Genet; 2002 Jun; 61(6):437-42. PubMed ID: 12121351 [TBL] [Abstract][Full Text] [Related]
8. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. Gonzalez-Alegre P; Afifi AK J Child Neurol; 2006 Mar; 21(3):223-9. PubMed ID: 16901424 [TBL] [Abstract][Full Text] [Related]
9. Longitudinal analysis of regional grey matter loss in Huntington disease: effects of the length of the expanded CAG repeat. Ruocco HH; Bonilha L; Li LM; Lopes-Cendes I; Cendes F J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):130-5. PubMed ID: 17615168 [TBL] [Abstract][Full Text] [Related]
12. CAG mutation effect on rate of progression in Huntington's disease. Squitieri F; Cannella M; Simonelli M Neurol Sci; 2002 Sep; 23 Suppl 2():S107-8. PubMed ID: 12548366 [TBL] [Abstract][Full Text] [Related]
13. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Aziz NA; Jurgens CK; Landwehrmeyer GB; ; van Roon-Mom WM; van Ommen GJ; Stijnen T; Roos RA Neurology; 2009 Oct; 73(16):1280-5. PubMed ID: 19776381 [TBL] [Abstract][Full Text] [Related]
14. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. Mariani LL; Tesson C; Charles P; Cazeneuve C; Hahn V; Youssov K; Freeman L; Grabli D; Roze E; Noël S; Peuvion JN; Bachoud-Levi AC; Brice A; Stevanin G; Durr A JAMA Neurol; 2016 Sep; 73(9):1105-14. PubMed ID: 27400454 [TBL] [Abstract][Full Text] [Related]
15. Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. Veitch NJ; Ennis M; McAbney JP; ; Shelbourne PF; Monckton DG DNA Repair (Amst); 2007 Jun; 6(6):789-96. PubMed ID: 17293170 [TBL] [Abstract][Full Text] [Related]
16. Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease. Aziz NA; van Belzen MJ; Coops ID; Belfroid RD; Roos RA Eur J Med Genet; 2011; 54(4):e413-8. PubMed ID: 21540131 [TBL] [Abstract][Full Text] [Related]