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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: remes am. 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. Among authors: remes am. 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.
Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.
Kaivorinne AL, Bode MK, Paavola L, Tuominen H, Kallio M, Renton AE, Traynor BJ, Moilanen V, Remes AM. Kaivorinne AL, et al. Among authors: remes am. Dement Geriatr Cogn Dis Extra. 2013 Aug 20;3(1):251-62. doi: 10.1159/000351859. eCollection 2013. Dement Geriatr Cogn Dis Extra. 2013. PMID: 24052799 Free PMC article.
Cerebrospinal fluid biomarkers for Alzheimer's disease in patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis with the C9ORF72 repeat expansion.
Kämäläinen A, Herukka SK, Hartikainen P, Helisalmi S, Moilanen V, Knuuttila A, Jansson L, Tienari PJ, Remes AM. Kämäläinen A, et al. Among authors: remes am. Dement Geriatr Cogn Disord. 2015;39(5-6):287-93. doi: 10.1159/000371704. Epub 2015 Mar 13. Dement Geriatr Cogn Disord. 2015. PMID: 25791939
Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion.
Junttila A, Kuvaja M, Hartikainen P, Siloaho M, Helisalmi S, Moilanen V, Kiviharju A, Jansson L, Tienari PJ, Remes AM, Herukka SK. Junttila A, et al. Among authors: remes am. Dement Geriatr Cogn Dis Extra. 2016 Apr 16;6(1):142-9. doi: 10.1159/000444788. eCollection 2016 Jan-Apr. Dement Geriatr Cogn Dis Extra. 2016. PMID: 27195002 Free PMC article.
FRONTotemporal dementia Incidence European Research Study-FRONTIERS: Rationale and design.
Borroni B, Graff C, Hardiman O, Ludolph AC, Moreno F, Otto M, Piccininni M, Remes AM, Rowe JB, Seelaar H, Stefanova E, Traykov L, Logroscino G; FRONTIERS. Borroni B, et al. Among authors: remes am. Alzheimers Dement. 2022 Mar;18(3):498-506. doi: 10.1002/alz.12414. Epub 2021 Aug 2. Alzheimers Dement. 2022. PMID: 34338439 Free PMC article. Review.
217 results