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735 results
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Genotype, haplotype and copy-number variation in worldwide human populations.
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Jakobsson M, et al. Among authors: bras jm. Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742. Nature. 2008. PMID: 18288195
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: bras j. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.
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: bras jm. 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.
Exome sequencing in Parkinson's disease.
Bras JM, Singleton AB. Bras JM, et al. Clin Genet. 2011 Aug;80(2):104-9. doi: 10.1111/j.1399-0004.2011.01722.x. Epub 2011 Jun 16. Clin Genet. 2011. PMID: 21651510 Free PMC article. Review.
Screening for VPS35 mutations in Parkinson's disease.
Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N. Sheerin UM, et al. Among authors: bras j. Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7. Neurobiol Aging. 2012. PMID: 22154191 Free PMC article.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: bras jm. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 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: bras j. 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.
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. Among authors: bras j. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.
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