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Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P. Ellis N, et al. Among authors: hong ep. Biol Psychiatry. 2020 May 1;87(9):857-865. doi: 10.1016/j.biopsych.2019.12.010. Epub 2019 Dec 17. Biol Psychiatry. 2020. PMID: 32087949 Free PMC article.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Among authors: hong ep. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Kim KH, et al. Among authors: hong ep. Am J Hum Genet. 2020 Jul 2;107(1):96-110. doi: 10.1016/j.ajhg.2020.05.012. Epub 2020 Jun 25. Am J Hum Genet. 2020. PMID: 32589923 Free PMC article.
Huntington's Disease Pathogenesis: Two Sequential Components.
Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM. Hong EP, et al. J Huntingtons Dis. 2021;10(1):35-51. doi: 10.3233/JHD-200427. J Huntingtons Dis. 2021. PMID: 33579862 Free PMC article. Review.
102 results