(WFRF:(Chiò A)) pers:(McLaughlin Russell L) pers:(Tiloca Cinzia) pers:(Troakes Claire)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10150naa a2202713 4500 | |
| 001 | oai:DiVA.org:umu-146567 | |
| 003 | SwePub | |
| 008 | 180516s2018 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1465672 URI |
| 024 | 7 | a https://doi.org/10.1016/j.neuron.2018.02.0272 DOI |
| 040 | a (SwePub)umu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Nicolas, Audeu Umeå universitet,Klinisk neurovetenskap4 aut |
| 245 | 1 0 | a Genome-wide Analyses Identify KIF5A as a Novel ALS Gene |
| 264 | 1 | b Cell Press,c 2018 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
| 700 | 1 | a Kenna, Kevin P.4 aut |
| 700 | 1 | a Renton, Alan E.4 aut |
| 700 | 1 | a Ticozzi, Nicola4 aut |
| 700 | 1 | a Faghri, Faraz4 aut |
| 700 | 1 | a Chia, Ruth4 aut |
| 700 | 1 | a Dominov, Janice A.4 aut |
| 700 | 1 | a Kenna, Brendan J.4 aut |
| 700 | 1 | a Nalls, Mike A.4 aut |
| 700 | 1 | a Keagle, Pamela4 aut |
| 700 | 1 | a Rivera, Alberto M.4 aut |
| 700 | 1 | a van Rheenen, Wouter4 aut |
| 700 | 1 | a Murphy, Natalie A.4 aut |
| 700 | 1 | a van Vugt, Joke J. F. A.4 aut |
| 700 | 1 | a Geiger, Joshua T.4 aut |
| 700 | 1 | a van der Spek, Rick A.4 aut |
| 700 | 1 | a Pliner, Hannah A.4 aut |
| 700 | 1 | a Smith, Bradley N.4 aut |
| 700 | 1 | a Marangi, Giuseppe4 aut |
| 700 | 1 | a Topp, Simon D.4 aut |
| 700 | 1 | a Abramzon, Yevgeniya4 aut |
| 700 | 1 | a Gkazi, Athina Soragia4 aut |
| 700 | 1 | a Eicher, John D.4 aut |
| 700 | 1 | a Kenna, Aoife4 aut |
| 700 | 1 | a Mora, Gabriele4 aut |
| 700 | 1 | a Calvo, Andrea4 aut |
| 700 | 1 | a Mazzini, Letizia4 aut |
| 700 | 1 | a Riva, Nilo4 aut |
| 700 | 1 | a Mandrioli, Jessica4 aut |
| 700 | 1 | a Caponnetto, Claudia4 aut |
| 700 | 1 | a Battistini, Stefania4 aut |
| 700 | 1 | a Volanti, Paolo4 aut |
| 700 | 1 | a La Bella, Vincenzo4 aut |
| 700 | 1 | a Conforti, Francesca L.4 aut |
| 700 | 1 | a Borghero, Giuseppe4 aut |
| 700 | 1 | a Messina, Sonia4 aut |
| 700 | 1 | a Simone, Isabella L.4 aut |
| 700 | 1 | a Trojsi, Francesca4 aut |
| 700 | 1 | a Salvi, Fabrizio4 aut |
| 700 | 1 | a Logullo, Francesco O.4 aut |
| 700 | 1 | a D'Alfonso, Sandra4 aut |
| 700 | 1 | a Corrado, Lucia4 aut |
| 700 | 1 | a Capasso, Margherita4 aut |
| 700 | 1 | a Ferrucci, Luigi4 aut |
| 700 | 1 | a Moreno, Cristiane de Araujo Martins4 aut |
| 700 | 1 | a Kamalakaran, Sitharthan4 aut |
| 700 | 1 | a Goldstein, David B.4 aut |
| 700 | 1 | a Gitler, Aaron D.4 aut |
| 700 | 1 | a Harris, Tim4 aut |
| 700 | 1 | a Myers, Richard M.4 aut |
| 700 | 1 | a Phatnani, Hemali4 aut |
| 700 | 1 | a Musunuri, Rajeeva Lochan4 aut |
| 700 | 1 | a Evani, Uday Shankar4 aut |
| 700 | 1 | a Abhyankar, Avinash4 aut |
| 700 | 1 | a Zody, Michael C.4 aut |
| 700 | 1 | a Kaye, Julia4 aut |
| 700 | 1 | a Finkbeiner, Steven4 aut |
| 700 | 1 | a Wyman, Stacia K.4 aut |
| 700 | 1 | a LeNail, Alex4 aut |
| 700 | 1 | a Lima, Leandro4 aut |
| 700 | 1 | a Fraenkel, Ernest4 aut |
| 700 | 1 | a Svendsen, Clive N.4 aut |
| 700 | 1 | a Thompson, Leslie M.4 aut |
| 700 | 1 | a Van Eyk, Jennifer E.4 aut |
| 700 | 1 | a Berry, James D.4 aut |
| 700 | 1 | a Miller, Timothy M.4 aut |
| 700 | 1 | a Kolb, Stephen J.4 aut |
| 700 | 1 | a Cudkowicz, Merit4 aut |
| 700 | 1 | a Baxi, Emily4 aut |
| 700 | 1 | a Benatar, Michael4 aut |
| 700 | 1 | a Taylor, J. Paul4 aut |
| 700 | 1 | a Rampersaud, Evadnie4 aut |
| 700 | 1 | a Wu, Gang4 aut |
| 700 | 1 | a Wuu, Joanne4 aut |
| 700 | 1 | a Lauria, Giuseppe4 aut |
| 700 | 1 | a Verde, Federico4 aut |
| 700 | 1 | a Fogh, Isabella4 aut |
| 700 | 1 | a Tiloca, Cinzia4 aut |
| 700 | 1 | a Comi, Giacomo P.4 aut |
| 700 | 1 | a Soraru, Gianni4 aut |
| 700 | 1 | a Cereda, Cristina4 aut |
| 700 | 1 | a Corcia, Philippe4 aut |
| 700 | 1 | a Laaksovirta, Hannu4 aut |
| 700 | 1 | a Myllykangas, Liisa4 aut |
| 700 | 1 | a Jansson, Lilja4 aut |
| 700 | 1 | a Valori, Miko4 aut |
| 700 | 1 | a Ealing, John4 aut |
| 700 | 1 | a Hamdalla, Hisham4 aut |
| 700 | 1 | a Rollinson, Sara4 aut |
| 700 | 1 | a Pickering-Brown, Stuart4 aut |
| 700 | 1 | a Orrell, Richard W.4 aut |
| 700 | 1 | a Sidle, Katie C.4 aut |
| 700 | 1 | a Malaspina, Andrea4 aut |
| 700 | 1 | a Hardy, John4 aut |
| 700 | 1 | a Singleton, Andrew B.4 aut |
| 700 | 1 | a Johnson, Janel O.4 aut |
| 700 | 1 | a Arepalli, Sampath4 aut |
| 700 | 1 | a Sapp, Peter C.4 aut |
| 700 | 1 | a McKenna-Yasek, Diane4 aut |
| 700 | 1 | a Polak, Meraida4 aut |
| 700 | 1 | a Asress, Seneshaw4 aut |
| 700 | 1 | a Al-Sarraj, Safa4 aut |
| 700 | 1 | a King, Andrew4 aut |
| 700 | 1 | a Troakes, Claire4 aut |
| 700 | 1 | a Vance, Caroline4 aut |
| 700 | 1 | a de Belleroche, Jacqueline4 aut |
| 700 | 1 | a Baas, Frank4 aut |
| 700 | 1 | a ten Asbroek, Anneloor L. M. A.4 aut |
| 700 | 1 | a Luis Munoz-Blanco, Jose4 aut |
| 700 | 1 | a Hernandez, Dena G.4 aut |
| 700 | 1 | a Ding, Jinhui4 aut |
| 700 | 1 | a Gibbs, J. Raphael4 aut |
| 700 | 1 | a Scholz, Sonja W.4 aut |
| 700 | 1 | a Floeter, Mary Kay4 aut |
| 700 | 1 | a Campbell, Roy H.4 aut |
| 700 | 1 | a Landi, Francesco4 aut |
| 700 | 1 | a Bowser, Robert4 aut |
| 700 | 1 | a Pulst, Stefan M.4 aut |
| 700 | 1 | a Ravits, John M.4 aut |
| 700 | 1 | a MacGowan, Daniel J. L.4 aut |
| 700 | 1 | a Kirby, Janine4 aut |
| 700 | 1 | a Pioro, Erik P.4 aut |
| 700 | 1 | a Pamphlett, Roger4 aut |
| 700 | 1 | a Broach, James4 aut |
| 700 | 1 | a Gerhard, Glenn4 aut |
| 700 | 1 | a Dunckley, Travis L.4 aut |
| 700 | 1 | a Brady, Christopher B.4 aut |
| 700 | 1 | a Kowall, Neil W.4 aut |
| 700 | 1 | a Troncoso, Juan C.4 aut |
| 700 | 1 | a Le Ber, Isabelle4 aut |
| 700 | 1 | a Mouzat, Kevin4 aut |
| 700 | 1 | a Lumbroso, Serge4 aut |
| 700 | 1 | a Heiman-Patterson, Terry D.4 aut |
| 700 | 1 | a Kamel, Freya4 aut |
| 700 | 1 | a Van Den Bosch, Ludo4 aut |
| 700 | 1 | a Baloh, Robert H.4 aut |
| 700 | 1 | a Strom, Tim M.4 aut |
| 700 | 1 | a Meitinger, Thomas4 aut |
| 700 | 1 | a Shatunov, Aleksey4 aut |
| 700 | 1 | a Van Eijk, Kristel R.4 aut |
| 700 | 1 | a de Carvalho, Mamede4 aut |
| 700 | 1 | a Kooyman, Maarten4 aut |
| 700 | 1 | a Middelkoop, Bas4 aut |
| 700 | 1 | a Moisse, Matthieu4 aut |
| 700 | 1 | a McLaughlin, Russell L.4 aut |
| 700 | 1 | a Van Es, Michael A.4 aut |
| 700 | 1 | a Weber, Markus4 aut |
| 700 | 1 | a Boylan, Kevin B.4 aut |
| 700 | 1 | a Van Blitterswijk, Marka4 aut |
| 700 | 1 | a Rademakers, Rosa4 aut |
| 700 | 1 | a Morrison, Karen E.4 aut |
| 700 | 1 | a Basak, A. Nazli4 aut |
| 700 | 1 | a Mora, Jesus S.4 aut |
| 700 | 1 | a Drory, Vivian E.4 aut |
| 700 | 1 | a Shaw, Pamela J.4 aut |
| 700 | 1 | a Turner, Martin R.4 aut |
| 700 | 1 | a Talbot, Kevin4 aut |
| 700 | 1 | a Hardiman, Orla4 aut |
| 700 | 1 | a Williams, Kelly L.4 aut |
| 700 | 1 | a Fifita, Jennifer A.4 aut |
| 700 | 1 | a Nicholson, Garth A.4 aut |
| 700 | 1 | a Blair, Ian P.4 aut |
| 700 | 1 | a Rouleau, Guy A.4 aut |
| 700 | 1 | a Esteban-Perez, Jesus4 aut |
| 700 | 1 | a Garcia-Redondo, Alberto4 aut |
| 700 | 1 | a Al-Chalabi, Ammar4 aut |
| 700 | 1 | a Rogaeva, Ekaterina4 aut |
| 700 | 1 | a Zinman, Lorne4 aut |
| 700 | 1 | a Ostrow, Lyle W.4 aut |
| 700 | 1 | a Maragakis, Nicholas J.4 aut |
| 700 | 1 | a Rothstein, Jeffrey D.4 aut |
| 700 | 1 | a Simmons, Zachary4 aut |
| 700 | 1 | a Cooper-Knock, Johnathan4 aut |
| 700 | 1 | a Brice, Alexis4 aut |
| 700 | 1 | a Goutman, Stephen A.4 aut |
| 700 | 1 | a Feldman, Eva L.4 aut |
| 700 | 1 | a Gibson, Summer B.4 aut |
| 700 | 1 | a Taroni, Franco4 aut |
| 700 | 1 | a Ratti, Antonia4 aut |
| 700 | 1 | a Gellera, Cinzia4 aut |
| 700 | 1 | a Van Damme, Philip4 aut |
| 700 | 1 | a Robberecht, Wim4 aut |
| 700 | 1 | a Fratta, Pietro4 aut |
| 700 | 1 | a Sabatelli, Mario4 aut |
| 700 | 1 | a Lunetta, Christian4 aut |
| 700 | 1 | a Ludolph, Albert C.4 aut |
| 700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001 |
| 700 | 1 | a Weishaupt, Jochen H.4 aut |
| 700 | 1 | a Camu, William4 aut |
| 700 | 1 | a Trojanowski, John Q.4 aut |
| 700 | 1 | a Van Deerlin, Vivianna M.4 aut |
| 700 | 1 | a Brown, Robert H., Jr.4 aut |
| 700 | 1 | a van den Berg, Leonard H.4 aut |
| 700 | 1 | a Veldink, Jan H.4 aut |
| 700 | 1 | a Harms, Matthew B.4 aut |
| 700 | 1 | a Glass, Jonathan D.4 aut |
| 700 | 1 | a Stone, David J.4 aut |
| 700 | 1 | a Tienari, Pentti4 aut |
| 700 | 1 | a Silani, Vincenzo4 aut |
| 700 | 1 | a Chio, Adriano4 aut |
| 700 | 1 | a Shaw, Christopher E.4 aut |
| 700 | 1 | a Traynor, Bryan J.4 aut |
| 700 | 1 | a Landers, John E.4 aut |
| 710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
| 773 | 0 | t Neurond : Cell Pressg 97:6, s. 1268-1283.e6q 97:6<1268-1283.e6x 0896-6273x 1097-4199 |
| 856 | 4 | u http://www.cell.com/article/S089662731830148X/pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-146567 |
| 856 | 4 8 | u https://doi.org/10.1016/j.neuron.2018.02.027 |
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