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Page 1
Biochemical characterization of torsinB.
O'Farrell C, Lockhart PJ, Lincoln S, De Lucia M, Singleton AB, Dickson DW, Cookson MR. O'Farrell C, et al. Among authors: singleton ab. Brain Res Mol Brain Res. 2004 Aug 23;127(1-2):1-9. doi: 10.1016/j.molbrainres.2004.05.005. Brain Res Mol Brain Res. 2004. PMID: 15306116
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: singleton ab. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: singleton ab. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Simón-Sánchez J, et al. Among authors: singleton ab. Nat Genet. 2009 Dec;41(12):1308-12. doi: 10.1038/ng.487. Epub 2009 Nov 15. Nat Genet. 2009. PMID: 19915575 Free PMC article.
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, Singleton AB. Gibbs JR, et al. Among authors: singleton ab. PLoS Genet. 2010 May 13;6(5):e1000952. doi: 10.1371/journal.pgen.1000952. PLoS Genet. 2010. PMID: 20485568 Free PMC article.
468 results