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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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.
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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: callister jb.
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
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p62/SQSTM1 analysis in frontotemporal lobar degeneration.
Miller L, Rollinson S, Callister JB, Young K, Harris J, Gerhard A, Neary D, Richardson A, Snowden J, Mann DM, Pickering-Brown SM.
Miller L, et al. Among authors: callister jb.
Neurobiol Aging. 2015 Mar;36(3):1603.e5-9. doi: 10.1016/j.neurobiolaging.2014.08.035. Epub 2014 Oct 18.
Neurobiol Aging. 2015.
PMID: 25433461
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Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.
Swaminathan A, Bouffard M, Liao M, Ryan S, Callister JB, Pickering-Brown SM, Armstrong GAB, Drapeau P.
Swaminathan A, et al. Among authors: callister jb.
Hum Mol Genet. 2018 May 15;27(10):1754-1762. doi: 10.1093/hmg/ddy083.
Hum Mol Genet. 2018.
PMID: 29528390
Free PMC article.
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