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Page 1
Another explanation for apparent epistasis.
Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN. Wood AR, et al. Among authors: singleton ab. Nature. 2014 Oct 2;514(7520):E3-5. doi: 10.1038/nature13691. Nature. 2014. PMID: 25279928 Free PMC article. No abstract available.
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Hernandez DG, et al. Among authors: singleton ab. Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401. Ann Neurol. 2005. PMID: 15732108
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
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: singleton ab. Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742. Nature. 2008. PMID: 18288195 Free article.
Structural genomic variation in ischemic stroke.
Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG, Brown RD Jr, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton AB. Matarin M, et al. Among authors: singleton ab. Neurogenetics. 2008 May;9(2):101-8. doi: 10.1007/s10048-008-0119-3. Epub 2008 Feb 21. Neurogenetics. 2008. PMID: 18288507 Free PMC article.
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Among authors: singleton ab. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.
427 results