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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: chio a. 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.
The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.
Restagno G, Gomez A, Lombardo F, Cocco E, Calvo A, Ghiglione P, Mutani R, Chiò A. Restagno G, et al. Among authors: chio a. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Mar;6(1):45-9. doi: 10.1080/14660820410021276. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16036425
The epidemiology of ALS and the role of population-based registries.
Beghi E, Logroscino G, Chiò A, Hardiman O, Mitchell D, Swingler R, Traynor BJ; EURALS Consortium. Beghi E, et al. Among authors: chio a. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1150-7. doi: 10.1016/j.bbadis.2006.09.008. Epub 2006 Sep 29. Biochim Biophys Acta. 2006. PMID: 17071060 Free article. Review. No abstract available.
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ. Momeni P, et al. Among authors: chio a. BMC Neurol. 2006 Dec 13;6:44. doi: 10.1186/1471-2377-6-44. BMC Neurol. 2006. PMID: 17166276 Free PMC article.
514 results