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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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第一作者: Nicolas, Aude
作者: Nicolas, Aude [1] ; Kenna, Kevin P. [2] ; Renton, Alan E. [3] ; Ticozzi, Nicola [4] ; Faghri, Faraz [5] ; Chia, Ruth [6] ; Dominov, Janice A. [7] ; Kenna, Brendan J. [8] ; Nalls, Mike A. [9] ; Keagle, Pamela [10] ; Rivera, Alberto M. [11] ; van Rheenen, Wouter [12] ; Murphy, Natalie A. [13] ; van Vugt, Joke J. F. A. [14] ; Geiger, Joshua T. [15] ; van der Spek, Rick A. [16] ; Pliner, Hannah A. [17] ; Shankaracharya [18] ; Smith, Bradley N. [19] ; Marangi, Giuseppe [20] ; Topp, Simon D. [21] ; Abramzon, Yevgeniya [22] ; Gkazi, Athina Soragia [23] ; Eicher, John D. [24] ; Kenna, Aoife [25] ; Mora, Gabriele [26] ; Calvo, Andrea [27] ; Mazzini, Letizia [28] ; Riva, Nilo [29] ; Mandrioli, Jessica [30] ; Caponnetto, Claudia [31] ; Battistini, Stefania [32] ; Volanti, Paolo [33] ; La Bella, Vincenzo [34] ; Conforti, Francesca L. [35] ; Borghero, Giuseppe [36] ; Messina, Sonia [37] ; Simone, Isabella L. [38] ; Trojsi, Francesca [39] ; Salvi, Fabrizio [40] ; Logullo, Francesco O. [41] ; D'Alfonso, Sandra [42] ; Corrado, Lucia [43] ; Capasso, Margherita [44] ; Ferrucci, Luigi [45] ; Moreno, Cristiane de Araujo Martins [46] ; Kamalakaran, Sitharthan [47] ; Goldstein, David B. [48] ; Gitler, Aaron D. [49] ; Harris, Tim [50] ; Myers, Richard M. [51] ; Phatnani, Hemali [52] ; Musunuri, Rajeeva Lochan [53] ; Evani, Uday Shankar [54] ; Abhyankar, Avinash [55] ; Zody, Michael C. [56] ; Kaye, Julia [57] ; Finkbeiner, Steven [58] ; Wyman, Stacia K. [59] ; LeNail, Alex [60] ; Lima, Leandro [61] ; Fraenkel, Ernest [62] ; Svendsen, Clive N. [63] ; Thompson, Leslie M. [64] ; Van Eyk, Jennifer E. [65] ; Berry, James D. [66] ; Miller, Timothy M. [67] ; Kolb, Stephen J. [68] ; Cudkowicz, Merit [69] ; Baxi, Emily [70] ; Benatar, Michael [71] ; Taylor, J. Paul [72] ; Rampersaud, Evadnie [73] ; Wu, Gang [74] ; Wuu, Joanne [75] ; Lauria, Giuseppe [76] ; Verde, Federico [77] ; Fogh, Isabella [78] ; Tiloca, Cinzia [79] ; Comi, Giacomo P. [80] ; Soraru, Gianni [81] ; Cereda, Cristina [82] ; Corcia, Philippe [83] ; Laaksovirta, Hannu [84] ; Myllykangas, Liisa [85] ; Jansson, Lilja [86] ; Valori, Miko [87] ; Ealing, John [88] ; Hamdalla, Hisham [89] ; Rollinson, Sara [90] ; Pickering-Brown, Stuart [91] ; Orrell, Richard W. [92] ; Sidle, Katie C. [93] ; Malaspina, Andrea [94] ; Hardy, John [95] ; Singleton, Andrew B. [96] ; Johnson, Janel O. [97] ; Arepalli, Sampath [98] ; Sapp, Peter C. [99] ; McKenna-Yasek, Diane [100] ; Polak, Meraida [101] ; Asress, Seneshaw [102] ; Al-Sarraj, Safa [103] ; King, Andrew [104] ; Troakes, Claire [105] ; Vance, Caroline [106] ; de Belleroche, Jacqueline [107] ; Baas, Frank [108] ; ten Asbroek, Anneloor L. M. A. [109] ; Luis Munoz-Blanco, Jose [110] ; Hernandez, Dena G. [111] ; Ding, Jinhui [112] ; Gibbs, J. Raphael [113] ; Scholz, Sonja W. [114] ; Floeter, Mary Kay [115] ; Campbell, Roy H. ; Landi, Francesco ; Bowser, Robert ; Pulst, Stefan M. ; Ravits, John M. ; MacGowan, Daniel J. L. ; Kirby, Janine ; Pioro, Erik P. ; Pamphlett, Roger ; Broach, James ; Gerhard, Glenn ; Dunckley, Travis L. ; Brady, Christopher B. ; Kowall, Neil W. ; Troncoso, Juan C. ; Le Ber, Isabelle ; Mouzat, Kevin ; Lumbroso, Serge ; Heiman-Patterson, Terry D. ; Kamel, Freya ; Van Den Bosch, Ludo ; Baloh, Robert H. ; Strom, Tim M. ; Meitinger, Thomas ; Shatunov, Aleksey ; Van Eijk, Kristel R. ; de Carvalho, Mamede ; Kooyman, Maarten ; Middelkoop, Bas ; Moisse, Matthieu ; McLaughlin, Russell L. ; Van Es, Michael A. ; Weber, Markus ; Boylan, Kevin B. ; Van Blitterswijk, Marka ; Rademakers, Rosa ; Morrison, Karen E. ; Basak, A. Nazli ; Mora, Jesus S. ; Drory, Vivian E. ; Shaw, Pamela J. ; Turner, Martin R. ; Talbot, Kevin ; Hardiman, Orla ; Williams, Kelly L. ; Fifita, Jennifer A. ; Nicholson, Garth A. ; Blair, Ian P. ; Rouleau, Guy A. ; Esteban-Perez, Jesus ; Garcia-Redondo, Alberto ; Al-Chalabi, Ammar ; Rogaeva, Ekaterina ; Zinman, Lorne ; Ostrow, Lyle W. ; Maragakis, Nicholas J. ; Rothstein, Jeffrey D. ; Simmons, Zachary ; Cooper-Knock, Johnathan ; Brice, Alexis ; Goutman, Stephen A. ; Feldman, Eva L. ; Gibson, Summer B. ; Taroni, Franco ; Ratti, Antonia ; Gellera, Cinzia ; Van Damme, Philip ; Robberecht, Wim ; Fratta, Pietro ; Sabatelli, Mario ; Lunetta, Christian ; Ludolph, Albert C. ; Andersen, Peter M. ; Weishaupt, Jochen H. ; Camu, William ; Trojanowski, John Q. ; Van Deerlin, Vivianna M. ; Brown, Robert H., Jr. ; van den Berg, Leonard H. ; Veldink, Jan H. ; Harms, Matthew B. ; Glass, Jonathan D. ; Stone, David J. ; Tienari, Pentti ; Silani, Vincenzo ; Chio, Adriano ; Shaw, Christopher E. ; Traynor, Bryan J. ; Landers, John E.
作者单位: Gladstone Inst Neurol Dis, San Francisco, CA USA [1] NINDS, Motor Neuron Disorders Unit, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA [2] Ist Sci San Raffaele, Inst Expt Neurol, Dept Neurol, Div Neurosci, Milan, Italy [3] KU Leuven Univ Leuven, Dept Neurosci, Expt Neurol, B-3000 Leuven, Belgium [4] Univ Siena, Dept Med Surg & Neurol Sci, Siena, Italy [5] Kantonsspital St Gallen, ALS Clin, Neuromuscular Dis Ctr, St Gallen, Switzerland [6] Univ Helsinki, Helsinki Univ Hosp, Dept Neurol, FIN-02900 Helsinki, Finland [7] Hosp 12 Octubre Madrid, SERMAS, Inst Invest, Unidad ELA, Madrid, Spain [8] Fondazione IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, I-20133 Milan, Italy [9] Tech Univ Munich, Inst Human Genet, Munich, Germany [10] Univ Massachusetts, Med Sch, Dept Neurol, Worcester, MA 01605 USA [11] MIT, Dept Biol Engn, 77 Massachusetts Ave, Cambridge, MA 02139 USA [12] Univ Illinois, Dept Comp Sci, Urbana, IL USA [13] NIA, Computat Biol Grp, Lab Neurogenet, NIH,Porter Neurosci Res Ctr, Bethesda, MD 20892 USA [14] Univ Toronto, Dept Med, Div Neurol, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON M5S 3H2, Canada [15] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA [16] NINDS, Neurodegenerat Dis Res Unit, NIH, Bethesda, MD 20892 USA [17] Cedars Sinai Med Ctr, Inst Heart, Los Angeles, CA USA [18] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA [19] Merck & Co Inc, MRL, Genet & Pharmacogen, West Point, PA 19486 USA [20] Penn State Hershey Med Ctr, Dept Neurol, Hershey, PA USA [21] NIA, Genom Technol Grp, Lab Neurogenet, NIH Porter Neurosci Res Ctr, Bethesda, MD 20892 USA [22] Penn State Coll Med, Dept Biochem, Hershey, PA USA [23] Univ Campania Luigi Vanvitelli, Dept Med Surg Neurol Metab & Aging Sci, Naples, Italy [24] Boston Univ, VA Boston Healthcare Syst, Neurol Serv, Boston, MA 02130 USA [25] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA [26] Maggiore della Carita Univ Hosp, Novara, Italy [27] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA [28] Queen Mary Univ London, NE London & Essex Reg Motor Neuron Dis Care Ctr, Blizard Inst, Ctr Neurosci [29] UPMC Univ Paris 06, Sorbonne Univ, Hop Pitie Salpetriere, AP HP,Inserm,CNRS,ICM, Paris, France [30] Univ Manchester, Fac Human & Med Sci, Manchester M13 9PT, Lancs, England [31] Univ Cattolica Sacro Cuore, Ctr Geriatr Med, Dept Geriatr Neurosci & Orthoped, I-00168 Rome, Italy [32] SURFsara, Amsterdam, Netherlands [33] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21287 USA [34] NIA, Neuromuscular Dis Res Sect, Lab Neurogenet, NIH,Porter Neurosci Res Ctr, Bethesda, MD 20892 USA [35] Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Boston, MA USA [36] Bogazici Univ, Suna & Inan Kirac Fdn, Neurodegenerat Res Lab, Istanbul, Turkey [37] Kings Coll London, Maurice Wohl Clin Neurosci Inst, Dept Basic & Clin Neurosci, London SE5 9RS [38] Univ G dAnnunzio, Dept Neurol, Chieti, Italy [39] Trin Coll Dublin, Smurfit Inst Genet, Populat Genet Lab, Dublin, Ireland [40] Univ Sydney, Brain & Mind Ctr, Discipline Pathol, 94 Mallett St, Camperdown, NSW 2050, Australia [41] Drexel Univ, Coll Med, Dept Neurol, Philadelphia, PA 19104 USA [42] Ulm Univ, Neurol Dept, Albert Einstein Allee 11, D-89081 Ulm, Germany [43] Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ USA [44] Univ Utah, Sch Med, Dept Neurol, Salt Lake City, UT USA [45] Azienda Osped Univ Modena, St Agostino Estense Hosp, Dept Neurosci, Modena, Italy [46] IRCCS, Ist Sci Neurol, Bellaria Hosp, Il Bene Ctr Immunol & Rare Neurol Dis, Bologna, Italy [47] Univ Calif Irvine, Inst Memory Impairment & Neurol Disorders, Dept Neurobiol & Behav, Irvine, CA [48] St Jude Childrens Res Hosp, Dept Computat Biol, Memphis, TN 38105 USA [49] Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy [50] Univ Milan, Fdn IRCCS Ist Neurol Carlo Besta, Motor Neuron Dis Ctr, Neurol Unit 3, Milan, Italy [51] Serena Onlus Fdn, NEuroMuscular Omnictr NEMO, Milan, Italy [52] Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA [53] IRCCS Fdn Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy [54] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands [55] Univ Montpellier, CHU Gui de Chauliac, ALS Ctr, Montpellier, France [56] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England [57] Univ Toronto, Sunnybrook Hlth Sci Ctr, Dept Internal Med, Div Neurol, Toronto, ON M4N 3M5, Canada [58] Macquarie Univ, Fac Med & Hlth Sci, Ctr MND Res, Sydney, NSW 2109, Australia [59] Univ Lisbon, Fac Med, Inst Mol Med, Inst Physiol, Lisbon, Portugal [60] New York Genome Ctr, Computat Biol, New York, NY USA [61] IRCCS Mondino Fdn, Genom & Postgenom Ctr, Pavia, Italy [62] CNR, Inst Neurol Sci, Cosenza, Italy [63] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA [64] HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA [65] Tel Aviv Sourasky Med Ctr, Dept Neurol, Tel Aviv, Israel [66] UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq House, London WC1N 3BG, England [67] Columbia Univ, Inst Genom Med, New York, NY 10032 USA [68] Catholic Univ, Inst Neurol, Ctr Clini NeMO, Largo F Vito 1, I-00168 Rome, Italy [69] NIA, Longitudinal Studies Sect, Clin Res Branch, NIH, Baltimore, MD 21224 USA [70] Cleveland Clin, Neurol Inst, Neuromuscular Ctr, Dept Neurol, Cleveland, OH 44106 USA [71] Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA [72] Vet Affairs Boston Healthcare Syst, Res & Dev Serv, Boston, MA USA [73] Univ Montpellier, INM, Montpellier, France [74] McGill Univ, Dept Neurol & Neurosurg, Montreal Neurol Inst, Montreal, PQ, Canada [75] UCL, Inst Neurol, Dept Clin Neurosci, London NW3 2PG, England [76] Univ Bari, Dept Basic Med Sci Neurosci & Sense Organs, Bari, Italy [77] Osped Policlin San Martino, Dept Neurosci Ophthalmol Genet Rehabil Materal &, Genoa, Italy [78] Univ Padua, Dept Neurosci, Padua, Italy [79] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA [80] IRCCS Ist Auxol Italiano, Dept Neurol, Milan, Italy [81] IRCCS, Salvatore Maugeri Fdn, ALS Ctr, Messina, Italy [82] Barrow Neurol Inst, Div Neurol, Phoenix, AZ 85013 USA [83] Mt Sinai Beth Israel Hosp, Mt Sinai Sch Med, New York, NY USA [84] Penn State Coll Med, Dept Pathol, Hershey, PA USA [85] Bioverativ, 225 2nd Ave, Waltham, MA 02145 USA [86] Umea Univ, Dept Pharmacol & Clin Neurosci, SE-90185 Umea, Sweden [87] Tours Univ, CHU Bretonneau, ALS Ctr, Tours, France [88] Salford Royal NHS Fdn Trust, Greater Manchester Neurosci Ctr, Salford M6 8HD, Lancs, England [89] Marche Polytech Univ, Neurol Clin, Ancona, Italy [90] Univ Helsinki, Dept Pathol, Helsinki, Finland [91] Imperial Coll London, Dept Med, Div Brain Sci, London W12 0NN, England [92] New York Genome Ctr, CGND, New York, NY USA [93] Ohio State Univ, Wexner Med Ctr, Dept Neurol, Columbus, OH 43210 USA [94] Hosp San Rafael, ALS Unit Neurol, Madrid, Spain [95] Acad Med Ctr, Dept Neurogenet & Neurol, Amsterdam, Netherlands [96] Merck & Co Inc, MRL, Genet & Pharmacogenom, Boston, MA 02115 USA [97] Univ Miami, Dept Neurol, Miami, FL 33136 USA [98] Univ Michigan, Dept Neurol, Ann Arbor, MI USA [99] Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA [100] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol, Utrecht, Netherlands [101] Univ Southampton, Fac Med, Southampton, Hants, England [102] Azienda Univ Osped Cagliari, Dept Neurol, Cagliari, Italy [103] Columbia Univ, Dept Neurol, New York, NY 10032 USA [104] Howard Hughes Med Inst, Chevy Chase, MD 20815 USA [105] Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Sheffield, S Yorkshire, England [106] Univ Messina, Dept Clin & Expt Med, Messina, Italy [107] NIA, Mol Genet Sect, Lab Neurogenet, NIH,Porter Neurosci Res Ctr, Bethesda, MD 20892 USA [108] Trinity Coll Dublin, Trinity Biomed Sci Inst, Acad Unit Neurol, Dublin, Ireland [109] Univ Palermo, ALS Clin Res Ctr, Palermo, Italy [110] NIEHS, Epidemiol Branch, Durham, NC 27709 USA [111] UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disor, London, England [112] Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA [113] Hosp Gen Univ Gregorio Maranon, IISGM, ALS Neuromuscular Unit, Madrid, Spain [114] Univ Turin, Rita Levi Montalcini Dept Neurosci, Turin, Italy [115]
发布时间 2019-02-18
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Neuron

Neuron

2018年97卷6期

1268-1283页

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