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 B.J. COLLABORATORS: Calvo A;Cammarosano S;Moglia C;Canosa A;Gallo S;Brunetti M;Ossola I;Mora G;Marinou K;Papetti L;Conte A;Luigetti M;La Bella V;Spataro R;Colletti T;Battistini S;Giannini F;Ricci C;Caponnetto C;Mancardi G;Mandich P;Salvi F;Bartolomei I;Mandrioli J;Sola P;Corbo M;Lunetta C;Penco S;MONSURRO', Maria Rosaria;TEDESCHI, Gioacchino;Conforti FL;Volanti P;Floris G;Cannas A;Piras V;Murru MR;Marrosu MG;Pugliatti M;Ticca A;Simone I;Logroscino G.

2011