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Page 1
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Among authors: morris hr. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
UK Parkinson's Disease Consortium; Wellcome Trust Case Control Consortium 2; Spencer CC, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, Barker RA, Bellenguez C, Bhatia K, Blackburn H, Blackwell JM, Bramon E, Brown MA, Brown MA, Burn D, Casas JP, Chinnery PF, Clarke CE, Corvin A, Craddock N, Deloukas P, Edkins S, Evans J, Freeman C, Gray E, Hardy J, Hudson G, Hunt S, Jankowski J, Langford C, Lees AJ, Markus HS, Mathew CG, McCarthy MI, Morrison KE, Palmer CN, Pearson JP, Peltonen L, Pirinen M, Plomin R, Potter S, Rautanen A, Sawcer SJ, Su Z, Trembath RC, Viswanathan AC, Williams NW, Morris HR, Donnelly P, Wood NW. UK Parkinson's Disease Consortium, et al. Among authors: morris hr. Hum Mol Genet. 2011 Jan 15;20(2):345-53. doi: 10.1093/hmg/ddq469. Epub 2010 Nov 2. Hum Mol Genet. 2011. PMID: 21044948 Free PMC article.
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium; Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR. Simón-Sánchez J, et al. Among authors: morris hr. PLoS One. 2012;7(3):e28787. doi: 10.1371/journal.pone.0028787. Epub 2012 Mar 12. PLoS One. 2012. PMID: 22427796 Free PMC article.
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.
Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M; International Parkinson’s Disease Genomics Consortium. Mittag F, et al. Hum Mutat. 2012 Dec;33(12):1708-18. doi: 10.1002/humu.22161. Epub 2012 Aug 3. Hum Mutat. 2012. PMID: 22777693 Free PMC article.
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). Keller MF, et al. Among authors: morris hr. Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335. Epub 2012 Aug 13. Hum Mol Genet. 2012. PMID: 22892372 Free PMC article.
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR. Kilarski LL, et al. Among authors: morris hr. Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Mov Disord. 2012. PMID: 22956510 Review.
The frequency of spinocerebellar ataxia type 23 in a UK population.
Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H. Fawcett K, et al. Among authors: morris hr. J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108490
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: morris hr. 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.
617 results