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Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
Lobanov SV, McAllister B, McDade-Kumar M, Landwehrmeyer GB, Orth M, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Lee JM, MacDonald ME, Gusella JF, Long JD, Ryten M, Williams NM, Holmans P, Massey TH, Jones L. Lobanov SV, et al. Among authors: williams nm. NPJ Genom Med. 2022 Sep 5;7(1):53. doi: 10.1038/s41525-022-00317-w. NPJ Genom Med. 2022. PMID: 36064847 Free PMC article.
Dentatorubral pallidoluysian atrophy in South Wales.
Wardle M, Majounie E, Williams NM, Rosser AE, Morris HR, Robertson NP. Wardle M, et al. Among authors: williams nm. J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):804-7. doi: 10.1136/jnnp.2007.128074. Epub 2007 Oct 26. J Neurol Neurosurg Psychiatry. 2008. PMID: 17965145
Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain.
Richards AL, Jones L, Moskvina V, Kirov G, Gejman PV, Levinson DF, Sanders AR; Molecular Genetics of Schizophrenia Collaboration (MGS); International Schizophrenia Consortium (ISC); Purcell S, Visscher PM, Craddock N, Owen MJ, Holmans P, O'Donovan MC. Richards AL, et al. Mol Psychiatry. 2012 Feb;17(2):193-201. doi: 10.1038/mp.2011.11. Epub 2011 Feb 22. Mol Psychiatry. 2012. PMID: 21339752 Free PMC article.
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
Holmans P, Moskvina V, Jones L, Sharma M; International Parkinson's Disease Genomics Consortium; Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM. Holmans P, et al. Among authors: williams nm. Hum Mol Genet. 2013 Mar 1;22(5):1039-49. doi: 10.1093/hmg/dds492. Epub 2012 Dec 7. Hum Mol Genet. 2013. PMID: 23223016 Free PMC article.
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium; O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Franke B, et al. Nat Neurosci. 2016 Mar;19(3):420-431. doi: 10.1038/nn.4228. Epub 2016 Feb 1. Nat Neurosci. 2016. PMID: 26854805 Free PMC article.
Induced pluripotent stem cells derived from the developing striatum as a potential donor source for cell replacement therapy for Huntington disease.
Choompoo N, Bartley OJM, Precious SV, Vinh NN, Schnell C, Garcia A, Roberton VH, Williams NM, Kemp PJ, Kelly CM, Rosser AE. Choompoo N, et al. Among authors: williams nm. Cytotherapy. 2021 Feb;23(2):111-118. doi: 10.1016/j.jcyt.2020.06.001. Epub 2020 Nov 25. Cytotherapy. 2021. PMID: 33246883 Free PMC article.
Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH; REGISTRY Investigators of the European Huntington's Disease Network. McAllister B, et al. Among authors: williams nm. Neurology. 2021 May 11;96(19):e2395-e2406. doi: 10.1212/WNL.0000000000011893. Epub 2021 Mar 25. Neurology. 2021. PMID: 33766994 Free PMC article. Clinical Trial.
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: williams nm. 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.
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Real R, Martinez-Carrasco A, Reynolds RH, Lawton MA, Tan MMX, Shoai M, Corvol JC, Ryten M, Bresner C, Hubbard L, Brice A, Lesage S, Faouzi J, Elbaz A, Artaud F, Williams N, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Real R, et al. Brain. 2023 May 2;146(5):1873-1887. doi: 10.1093/brain/awac414. Brain. 2023. PMID: 36348503 Free PMC article.
345 results