A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
C9ORF72基因中六核苷酸重复序列的扩增是9p21染色体连锁的ALS-FTD的病因。
期刊:Neuron
影响因子:15
doi:10.1016/j.neuron.2011.09.010
Renton, Alan E; Majounie, Elisa; Waite, Adrian; Simón-Sánchez, Javier; Rollinson, Sara; Gibbs, J Raphael; Schymick, Jennifer C; Laaksovirta, Hannu; van Swieten, John C; Myllykangas, Liisa; Kalimo, Hannu; Paetau, Anders; Abramzon, Yevgeniya; Remes, Anne M; Kaganovich, Alice; Scholz, Sonja W; Duckworth, Jamie; Ding, Jinhui; Harmer, Daniel W; Hernandez, Dena G; Johnson, Janel O; Mok, Kin; Ryten, Mina; Trabzuni, Danyah; Guerreiro, Rita J; Orrell, Richard W; Neal, James; Murray, Alex; Pearson, Justin; Jansen, Iris E; Sondervan, David; Seelaar, Harro; Blake, Derek; Young, Kate; Halliwell, Nicola; Callister, Janis Bennion; Toulson, Greg; Richardson, Anna; Gerhard, Alex; Snowden, Julie; Mann, David; Neary, David; Nalls, Michael A; Peuralinna, Terhi; Jansson, Lilja; Isoviita, Veli-Matti; Kaivorinne, Anna-Lotta; Hölttä-Vuori, Maarit; Ikonen, Elina; Sulkava, Raimo; Benatar, Michael; Wuu, Joanne; Chiò, Adriano; Restagno, Gabriella; Borghero, Giuseppe; Sabatelli, Mario; Heckerman, David; Rogaeva, Ekaterina; Zinman, Lorne; Rothstein, Jeffrey D; Sendtner, Michael; Drepper, Carsten; Eichler, Evan E; Alkan, Can; Abdullaev, Ziedulla; Pack, Svetlana D; Dutra, Amalia; Pak, Evgenia; Hardy, John; Singleton, Andrew; Williams, Nigel M; Heutink, Peter; Pickering-Brown, Stuart; Morris, Huw R; Tienari, Pentti J; Traynor, Bryan J