C9orf72-associated neurodegeneration in ALS-FTD: breaking new ground in ribosomal RNA and nucleolar dysfunction.

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Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C Van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M Remes, Alice Kaganovich, Sonja W Scholz, Jamie Duckworth, Jinhui Ding, Daniel W Harmer, Dena G Hernandez, Janel O Johnson, Kin Mok, Mina Ryten, Danyah Trabzuni, Rita J Guerreiro, Richard W Orrell, James Neal, Alex Murray, Justin Pearson, Iris E Jansen, David Sondervan, Harro Seelaar, Derek Blake, Kate Young, Nicola Halliwell, Janis Bennion Callister, Greg Toulson, Anna Richardson, Alex Gerhard, Julie Snowden, David Mann, David Neary, Michael A Nalls, Terhi Peuralinna, Lilja Jansson, Veli-Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä-Vuori, Elina Ikonen, Raimo Sulkava, Michael Benatar, Joanne Wuu, Adriano Chiò, Gabriella Restagno, Giuseppe Borghero, Mario Sabatelli, David Heckerman, Ekaterina Rogaeva, Lorne Zinman, Jeffrey D Rothstein, Michael Sendtner, Carsten Drepper, Evan E Eichler, Can Alkan, Ziedulla Abdullaev, Svetlana D Pack, Amalia Dutra, Evgenia Pak, John Hardy, Andrew Singleton, Nigel M Williams, Peter Heutink, Stuart Pickering-Brown, Huw R Morris, Pentti J Tienari, Bryan J Traynor, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron. ,vol. 72, pp. 257- 268 ,(2011) , 10.1016/J.NEURON.2011.09.010

Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson, Naomi Kouri, Aleksandra Wojtas, Pheth Sengdy, Ging-Yuek R Hsiung, Anna Karydas, William W Seeley, Keith A Josephs, Giovanni Coppola, Daniel H Geschwind, Zbigniew K Wszolek, Howard Feldman, David S Knopman, Ronald C Petersen, Bruce L Miller, Dennis W Dickson, Kevin B Boylan, Neill R Graff-Radford, Rosa Rademakers, None, Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron. ,vol. 72, pp. 245- 256 ,(2011) , 10.1016/J.NEURON.2011.09.011