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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. Among authors: toulson g. 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.
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Majounie E, et al. Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9. Lancet Neurol. 2012. PMID: 22406228 Free PMC article.
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.
Rollinson S, Halliwell N, Young K, Callister JB, Toulson G, Gibbons L, Davidson YS, Robinson AC, Gerhard A, Richardson A, Neary D, Snowden J, Mann DM, Pickering-Brown SM. Rollinson S, et al. Among authors: toulson g. Neurobiol Aging. 2012 Aug;33(8):1846.e5-6. doi: 10.1016/j.neurobiolaging.2012.01.109. Epub 2012 Mar 10. Neurobiol Aging. 2012. PMID: 22410647
Analysis of optineurin in frontotemporal lobar degeneration.
Rollinson S, Bennion J, Toulson G, Halliwell N, Usher S, Snowden J, Richardson A, Neary D, Mann D, Pickering-Brown SM. Rollinson S, et al. Among authors: toulson g. Neurobiol Aging. 2012 Feb;33(2):425.e1-2. doi: 10.1016/j.neurobiolaging.2010.10.002. Epub 2010 Nov 12. Neurobiol Aging. 2012. PMID: 21074902
Plasma oxalate: comparison of methodologies.
Stokes F, Acquaviva-Bourdain C, Hoppe B, Lieske JC, Lindner E, Toulson G, Vaz FM, Rumsby G. Stokes F, et al. Among authors: toulson g. Urolithiasis. 2020 Dec;48(6):473-480. doi: 10.1007/s00240-020-01197-4. Epub 2020 May 29. Urolithiasis. 2020. PMID: 32472220 Free PMC article.