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Page 1
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A. Fung HC, et al. Lancet Neurol. 2006 Nov;5(11):911-6. doi: 10.1016/S1474-4422(06)70578-6. Lancet Neurol. 2006. PMID: 17052657
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. Simon-Sanchez J, et al. Hum Mol Genet. 2007 Jan 1;16(1):1-14. doi: 10.1093/hmg/ddl436. Epub 2006 Nov 20. Hum Mol Genet. 2007. PMID: 17116639
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD Jr, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF. Matarín M, et al. Lancet Neurol. 2007 May;6(5):414-20. doi: 10.1016/S1474-4422(07)70081-9. Lancet Neurol. 2007. PMID: 17434096 Free PMC article.
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. 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. 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. 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. 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.
90 results