Search: (WFRF:(Chiò A)) pers:(McLaughlin Russell L) pers:(Tiloca Cinzia) pers:(Rouleau Guy A.)
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Genome-wide Analyse...
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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- Nicolas, Aude (author)
- Umeå universitet,Klinisk neurovetenskap
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Kenna, Kevin P. (author)
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Renton, Alan E. (author)
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show more...
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Ticozzi, Nicola (author)
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Faghri, Faraz (author)
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Chia, Ruth (author)
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Dominov, Janice A. (author)
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Kenna, Brendan J. (author)
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Nalls, Mike A. (author)
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Keagle, Pamela (author)
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Rivera, Alberto M. (author)
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van Rheenen, Wouter (author)
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Murphy, Natalie A. (author)
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van Vugt, Joke J. F. A. (author)
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Geiger, Joshua T. (author)
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van der Spek, Rick A. (author)
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Pliner, Hannah A. (author)
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Smith, Bradley N. (author)
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Marangi, Giuseppe (author)
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Topp, Simon D. (author)
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Abramzon, Yevgeniya (author)
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Gkazi, Athina Soragia (author)
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Eicher, John D. (author)
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Kenna, Aoife (author)
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Mora, Gabriele (author)
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Calvo, Andrea (author)
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Mazzini, Letizia (author)
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Riva, Nilo (author)
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Mandrioli, Jessica (author)
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Caponnetto, Claudia (author)
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Battistini, Stefania (author)
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Volanti, Paolo (author)
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La Bella, Vincenzo (author)
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Conforti, Francesca L. (author)
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Borghero, Giuseppe (author)
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Messina, Sonia (author)
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Simone, Isabella L. (author)
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Trojsi, Francesca (author)
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Salvi, Fabrizio (author)
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Logullo, Francesco O. (author)
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D'Alfonso, Sandra (author)
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Corrado, Lucia (author)
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Capasso, Margherita (author)
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Ferrucci, Luigi (author)
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Moreno, Cristiane de Araujo Martins (author)
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Kamalakaran, Sitharthan (author)
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Goldstein, David B. (author)
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Gitler, Aaron D. (author)
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Harris, Tim (author)
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Myers, Richard M. (author)
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Phatnani, Hemali (author)
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Musunuri, Rajeeva Lochan (author)
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Evani, Uday Shankar (author)
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Abhyankar, Avinash (author)
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Zody, Michael C. (author)
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Kaye, Julia (author)
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Finkbeiner, Steven (author)
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Wyman, Stacia K. (author)
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LeNail, Alex (author)
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Lima, Leandro (author)
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Fraenkel, Ernest (author)
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Svendsen, Clive N. (author)
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Thompson, Leslie M. (author)
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Van Eyk, Jennifer E. (author)
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Berry, James D. (author)
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Miller, Timothy M. (author)
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Kolb, Stephen J. (author)
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Cudkowicz, Merit (author)
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Baxi, Emily (author)
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Benatar, Michael (author)
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Taylor, J. Paul (author)
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Rampersaud, Evadnie (author)
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Wu, Gang (author)
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Wuu, Joanne (author)
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Lauria, Giuseppe (author)
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Verde, Federico (author)
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Fogh, Isabella (author)
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Tiloca, Cinzia (author)
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Comi, Giacomo P. (author)
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Soraru, Gianni (author)
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Cereda, Cristina (author)
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Corcia, Philippe (author)
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Laaksovirta, Hannu (author)
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Myllykangas, Liisa (author)
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Jansson, Lilja (author)
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Valori, Miko (author)
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Ealing, John (author)
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Hamdalla, Hisham (author)
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Rollinson, Sara (author)
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Pickering-Brown, Stuart (author)
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Orrell, Richard W. (author)
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Sidle, Katie C. (author)
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Malaspina, Andrea (author)
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Hardy, John (author)
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Singleton, Andrew B. (author)
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Johnson, Janel O. (author)
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Arepalli, Sampath (author)
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Sapp, Peter C. (author)
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McKenna-Yasek, Diane (author)
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Polak, Meraida (author)
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Asress, Seneshaw (author)
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Al-Sarraj, Safa (author)
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King, Andrew (author)
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Troakes, Claire (author)
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Vance, Caroline (author)
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de Belleroche, Jacqueline (author)
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Baas, Frank (author)
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ten Asbroek, Anneloor L. M. A. (author)
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Luis Munoz-Blanco, Jose (author)
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Hernandez, Dena G. (author)
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Ding, Jinhui (author)
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Gibbs, J. Raphael (author)
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Scholz, Sonja W. (author)
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Floeter, Mary Kay (author)
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Campbell, Roy H. (author)
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Landi, Francesco (author)
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Bowser, Robert (author)
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Pulst, Stefan M. (author)
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Ravits, John M. (author)
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MacGowan, Daniel J. L. (author)
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Kirby, Janine (author)
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Pioro, Erik P. (author)
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Pamphlett, Roger (author)
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Broach, James (author)
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Gerhard, Glenn (author)
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Dunckley, Travis L. (author)
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Brady, Christopher B. (author)
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Kowall, Neil W. (author)
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Troncoso, Juan C. (author)
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Le Ber, Isabelle (author)
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Mouzat, Kevin (author)
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Lumbroso, Serge (author)
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Heiman-Patterson, Terry D. (author)
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Kamel, Freya (author)
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Van Den Bosch, Ludo (author)
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Baloh, Robert H. (author)
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Strom, Tim M. (author)
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Meitinger, Thomas (author)
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Shatunov, Aleksey (author)
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Van Eijk, Kristel R. (author)
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de Carvalho, Mamede (author)
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Kooyman, Maarten (author)
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Middelkoop, Bas (author)
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Moisse, Matthieu (author)
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McLaughlin, Russell L. (author)
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Van Es, Michael A. (author)
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Weber, Markus (author)
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Boylan, Kevin B. (author)
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Van Blitterswijk, Marka (author)
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Rademakers, Rosa (author)
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Morrison, Karen E. (author)
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Basak, A. Nazli (author)
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Mora, Jesus S. (author)
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Drory, Vivian E. (author)
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Shaw, Pamela J. (author)
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Turner, Martin R. (author)
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Talbot, Kevin (author)
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Hardiman, Orla (author)
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Williams, Kelly L. (author)
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Fifita, Jennifer A. (author)
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Nicholson, Garth A. (author)
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Blair, Ian P. (author)
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Rouleau, Guy A. (author)
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Esteban-Perez, Jesus (author)
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Garcia-Redondo, Alberto (author)
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Al-Chalabi, Ammar (author)
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Rogaeva, Ekaterina (author)
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Zinman, Lorne (author)
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Ostrow, Lyle W. (author)
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Maragakis, Nicholas J. (author)
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Rothstein, Jeffrey D. (author)
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Simmons, Zachary (author)
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Cooper-Knock, Johnathan (author)
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Brice, Alexis (author)
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Goutman, Stephen A. (author)
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Feldman, Eva L. (author)
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Gibson, Summer B. (author)
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Taroni, Franco (author)
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Ratti, Antonia (author)
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Gellera, Cinzia (author)
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Van Damme, Philip (author)
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Robberecht, Wim (author)
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Fratta, Pietro (author)
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Sabatelli, Mario (author)
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Lunetta, Christian (author)
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Ludolph, Albert C. (author)
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- Andersen, Peter M. (author)
- Umeå universitet,Klinisk neurovetenskap
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Weishaupt, Jochen H. (author)
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Camu, William (author)
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Trojanowski, John Q. (author)
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Van Deerlin, Vivianna M. (author)
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Brown, Robert H., Jr. (author)
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van den Berg, Leonard H. (author)
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Veldink, Jan H. (author)
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Harms, Matthew B. (author)
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Glass, Jonathan D. (author)
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Stone, David J. (author)
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Tienari, Pentti (author)
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Silani, Vincenzo (author)
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Chio, Adriano (author)
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Shaw, Christopher E. (author)
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Traynor, Bryan J. (author)
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Landers, John E. (author)
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(creator_code:org_t)
- Cell Press, 2018
- 2018
- English.
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In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
- Related links:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
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Neuron
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To the university's database
- By the author/editor
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Nicolas, Aude
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Kenna, Kevin P.
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Renton, Alan E.
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Ticozzi, Nicola
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Faghri, Faraz
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Chia, Ruth
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show more...
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Dominov, Janice ...
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Kenna, Brendan J ...
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Nalls, Mike A.
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Keagle, Pamela
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Rivera, Alberto ...
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van Rheenen, Wou ...
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Murphy, Natalie ...
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van Vugt, Joke J ...
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Geiger, Joshua T ...
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van der Spek, Ri ...
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Pliner, Hannah A ...
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Smith, Bradley N ...
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Marangi, Giusepp ...
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Topp, Simon D.
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Abramzon, Yevgen ...
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Gkazi, Athina So ...
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Eicher, John D.
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Kenna, Aoife
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Mora, Gabriele
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Calvo, Andrea
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Mazzini, Letizia
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Riva, Nilo
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Mandrioli, Jessi ...
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Caponnetto, Clau ...
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Battistini, Stef ...
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Volanti, Paolo
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La Bella, Vincen ...
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Conforti, France ...
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Borghero, Giusep ...
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Messina, Sonia
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Simone, Isabella ...
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Trojsi, Francesc ...
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Salvi, Fabrizio
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Logullo, Frances ...
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D'Alfonso, Sandr ...
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Corrado, Lucia
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Capasso, Margher ...
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Ferrucci, Luigi
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Moreno, Cristian ...
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Kamalakaran, Sit ...
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Goldstein, David ...
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Gitler, Aaron D.
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Harris, Tim
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Myers, Richard M ...
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Phatnani, Hemali
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Musunuri, Rajeev ...
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Evani, Uday Shan ...
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Abhyankar, Avina ...
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Zody, Michael C.
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Kaye, Julia
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Finkbeiner, Stev ...
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Wyman, Stacia K.
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LeNail, Alex
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Lima, Leandro
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Fraenkel, Ernest
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Svendsen, Clive ...
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Thompson, Leslie ...
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Van Eyk, Jennife ...
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Berry, James D.
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Miller, Timothy ...
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Kolb, Stephen J.
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Cudkowicz, Merit
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Baxi, Emily
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Benatar, Michael
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Taylor, J. Paul
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Rampersaud, Evad ...
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Wu, Gang
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Wuu, Joanne
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Lauria, Giuseppe
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Verde, Federico
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Fogh, Isabella
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Tiloca, Cinzia
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Comi, Giacomo P.
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Soraru, Gianni
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Cereda, Cristina
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Corcia, Philippe
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Laaksovirta, Han ...
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Myllykangas, Lii ...
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Jansson, Lilja
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Valori, Miko
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Ealing, John
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Hamdalla, Hisham
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Rollinson, Sara
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Pickering-Brown, ...
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Orrell, Richard ...
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Sidle, Katie C.
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Malaspina, Andre ...
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Hardy, John
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Singleton, Andre ...
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Johnson, Janel O ...
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Arepalli, Sampat ...
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Sapp, Peter C.
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McKenna-Yasek, D ...
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Polak, Meraida
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Asress, Seneshaw
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Al-Sarraj, Safa
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King, Andrew
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Troakes, Claire
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Vance, Caroline
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de Belleroche, J ...
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Baas, Frank
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ten Asbroek, Ann ...
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Luis Munoz-Blanc ...
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Hernandez, Dena ...
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Ding, Jinhui
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Gibbs, J. Raphae ...
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Scholz, Sonja W.
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Floeter, Mary Ka ...
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Campbell, Roy H.
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Landi, Francesco
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Bowser, Robert
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Pulst, Stefan M.
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Ravits, John M.
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MacGowan, Daniel ...
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Kirby, Janine
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Pioro, Erik P.
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Pamphlett, Roger
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Broach, James
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Gerhard, Glenn
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Dunckley, Travis ...
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Brady, Christoph ...
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Kowall, Neil W.
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Troncoso, Juan C ...
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Le Ber, Isabelle
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Mouzat, Kevin
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Lumbroso, Serge
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Heiman-Patterson ...
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Kamel, Freya
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Van Den Bosch, L ...
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Baloh, Robert H.
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Strom, Tim M.
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Meitinger, Thoma ...
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Shatunov, Alekse ...
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Van Eijk, Kriste ...
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de Carvalho, Mam ...
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Kooyman, Maarten
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Middelkoop, Bas
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Moisse, Matthieu
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McLaughlin, Russ ...
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Van Es, Michael ...
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Weber, Markus
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Boylan, Kevin B.
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Van Blitterswijk ...
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Rademakers, Rosa
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Morrison, Karen ...
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Basak, A. Nazli
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Mora, Jesus S.
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Drory, Vivian E.
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Shaw, Pamela J.
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Turner, Martin R ...
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Talbot, Kevin
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Hardiman, Orla
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Williams, Kelly ...
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Fifita, Jennifer ...
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Nicholson, Garth ...
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Blair, Ian P.
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Rouleau, Guy A.
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Esteban-Perez, J ...
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Garcia-Redondo, ...
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Al-Chalabi, Amma ...
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Rogaeva, Ekateri ...
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Zinman, Lorne
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Ostrow, Lyle W.
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Maragakis, Nicho ...
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Rothstein, Jeffr ...
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Simmons, Zachary
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Cooper-Knock, Jo ...
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Brice, Alexis
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Goutman, Stephen ...
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Feldman, Eva L.
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Gibson, Summer B ...
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Taroni, Franco
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Ratti, Antonia
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Gellera, Cinzia
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Van Damme, Phili ...
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Robberecht, Wim
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Fratta, Pietro
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Sabatelli, Mario
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Lunetta, Christi ...
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Ludolph, Albert ...
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Andersen, Peter ...
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Weishaupt, Joche ...
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Camu, William
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Trojanowski, Joh ...
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Van Deerlin, Viv ...
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Brown, Robert H. ...
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van den Berg, Le ...
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Veldink, Jan H.
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Harms, Matthew B ...
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Glass, Jonathan ...
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Stone, David J.
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Tienari, Pentti
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Silani, Vincenzo
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Chio, Adriano
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Shaw, Christophe ...
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Traynor, Bryan J ...
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Landers, John E.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Neuron
- By the university
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Umeå University