부산대학교 도서관

van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Gagliardi, Stella; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M., 1962; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.

Nature Genetics. 53(12):1636-1648

Sara Saez-Atienzar; Cleide dos Santos Souza; Ruth Chia; Selina N. Beal; Ileana Lorenzini; Ruili Huang; Jennifer Levy; Camelia Burciu; Jinhui Ding; J. Raphael Gibbs; Ashley Jones; Ramita Dewan; Viviana Pensato; Silvia Peverelli; Lucia Corrado; Joke J.F.A. van Vugt; Wouter van Rheenen; Ceren Tunca; Elif Bayraktar; Menghang Xia; Alfredo Iacoangeli; Aleksey Shatunov; Cinzia Tiloca; Nicola Ticozzi; Federico Verde; Letizia Mazzini; Kevin Kenna; Ahmad Al Khleifat; Sarah Opie-Martin; Flavia Raggi; Massimiliano Filosto; Stefano Cotti Piccinelli; Alessandro Padovani; Stella Gagliardi; Maurizio Inghilleri; Alessandra Ferlini; Rosario Vasta; Andrea Calvo; Cristina Moglia; Antonio Canosa; Umberto Manera; Maurizio Grassano; Jessica Mandrioli; Gabriele Mora; Christian Lunetta; Raffaella Tanel; Francesca Trojsi; Patrizio Cardinali; Salvatore Gallone; Maura Brunetti; Daniela Galimberti; Maria Serpente; Chiara Fenoglio; Elio Scarpini; Giacomo P. Comi; Stefania Corti; Roberto Del Bo; Mauro Ceroni; Giuseppe Lauria Pinter; Franco Taroni; Eleonora Dalla Bella; Enrica Bersano; Charles J. Curtis; Sang Hyuck Lee; Raymond Chung; Hamel Patel; Karen E. Morrison; Johnathan Cooper-Knock; Pamela J. Shaw; Gerome Breen; Richard J.B. Dobson; Clifton L. Dalgard; Sonja W. Scholz; Ammar Al-Chalabi; Leonard H. van den Berg; Russell McLaughlin; Orla Hardiman; Cristina Cereda; Gianni Sorarù; Sandra D’Alfonso; Siddharthan Chandran; Suvankar Pal; Antonia Ratti; Cinzia Gellera; Kory Johnson; Tara Doucet-O’Hare; Nicholas Pasternack; Tongguang Wang; Avindra Nath; Gabriele Siciliano; Vincenzo Silani; Ayşe Nazlı Başak; Jan H. Veldink; William Camu; Jonathan D. Glass; John E. Landers; Adriano Chiò; Rita Sattler; Christopher E. Shaw; Laura Ferraiuolo; Isabella Fogh; Bryan J. Traynor; Robert H. Baloh; Robert Bowser; Christopher B. Brady; Alexis Brice; James Broach; Adriano Chio; John Cooper-Knock; Daniele Cusi; Carsten Drepper; Vivian E. Drory; Travis L. Dunckley; Eva Feldman; Mary Kay Floeter; Pietro Fratta; Glenn Gerhard; Summer B. Gibson; Stephen A. Goutman; John Hardy; Matthew B. Harms; Terry D. Heiman-Patterson; Lilja Jansson; Janine Kirby; Hannu Laaksovirta; Francesco Landi; Isabelle Le Ber; Serge Lumbroso; Claire Guissart; Daniel JL. MacGowan; Nicholas J. Maragakis; Kevin Mouzat; Liisa Myllykangas; Richard W. Orrell; Lyle W. Ostrow; Stuart Pickering-Brown; Erik P. Pioro; Stefan M. Pulst; John M. Ravits; Alan E. Renton; Wim Robberecht; Ekaterina Rogaeva; Jeffrey D. Rothstein; Erika Salvi; Michael Sendtner; Katie C. Sidle; Zachary Simmons; David J. Stone; Pentti J. Tienari; John Q. Trojanowski; Juan C. Troncoso; Miko Valori; Philip Van Damme; Vivianna M. Van Deerlin; Ludo Van Den Bosch; Lorne Zinman; Stefania M. Angelocola; Francesco P. Ausiello; Marco Barberis; Ilaria Bartolomei; Stefania Battistini; Giulia Bisogni; Giuseppe Borghero; Corrado Cabona; Fabrizio Canale; Teresa A. Cantisani; Margherita Capasso; Claudia Caponnetto; Paola Carrera; Federico Casale; Tiziana Colletti; Francesca L. Conforti; Amelia Conte; Elisa Conti; Massimo Corbo; Stefania Cuccu; Eustachio D'Errico; Giovanni DeMarco; Raffaele Dubbioso; Carlo Ferrarese; Pilar M. Ferraro; Massimo Filippi; Nicola Fini; Gianluca Floris; Giuseppe Fuda; Giulia Gianferrari; Fabio Giannini; Lucia Greco; Barbara Iazzolino; Alessandro Introna; Vincenzo La Bella; Serena Lattante; Giuseppe Lauria; Rocco Liguori; Giancarlo Logroscino; Francesco O. Logullo; Paola Mandich; Fiore Manganelli; Giuseppe Marangi; Kalliopi Marinou; Maria Giovanna Marrosu; Ilaria Martinelli; Sonia Messina; Maria Rosaria Monsurrò; Lorena Mosca; Maria R. Murru; Paola Origone; Carla Passaniti; Cristina Petrelli; Antonio Petrucci; Angelo Pirisi; Susanna Pozzi; Maura Pugliatti; Angelo Quattrini; Claudia Ricci; Giulia Riolo; Nilo Riva; Massimo Russo; Mario Sabatelli; Paolina Salamone; Marco Salivetto; Fabrizio Salvi; Marialuisa Santarelli; Luca Sbaiz; Riccardo Sideri; Isabella Simone; Cecilia Simonini; Rossella Spataro; Gioacchino Tedeschi; Anna Ticca; Antonella Torriello; Stefania Tranquilli; Lucio Tremolizzo; Veria Vacchiano; Giuseppe Vita; Paolo Volanti; Marcella Zollino; Elisabetta Zucchi; Barbara Castellotti; Costanza Simoncini; Annalisa Lo Gerfo; Philippe Corcia; Philippe Couratier; Patrick Vourc'h; Marc Gotkine; Vivian Drory; Jan H. van den Veldink; Leonard H. Berg; Mamede de Carvalho; Jesus S. Mora Pardina; Monica Povedano; Peter Andersen; Markus Weber; Chris Shaw; Adelani Adeleye; Camille Alba; Dagmar Bacikova; Daniel N. Hupalo; Elisa McGrath Martinez; Anthony R. Soltis; Gauthaman Sukumar; Coralie Viollet; Matthew D. Wilkerson

Cell Genomics, Vol 4, Iss 11, Pp 100679- (2024)

Barbier, Mathieu; Camuzat, Agnès; el Hachimi, Khalid; Guegan, Justine; Rinaldi, Daisy; Lattante, Serena; Houot, Marion; Sánchez-Valle, Raquel; Sabatelli, Mario; Antonell, Anna; Molina-Porcel, Laura; Clot, Fabienne; Couratier, Philippe; van der Ende, Emma; van der Zee, Julie; Manzoni, Claudia; Camu, William; Cazeneuve, C. cile; Sellal, François; Didic, Mira; Golfier, V. ronique; Pasquier, Florence; Duyckaerts, Charles; Rossi, Giacomina; Bruni, Amalia C.; Alvarez, Victoria; Gómez-Tortosa, Estrella; de Mendonça, Alexandre; Graff, Caroline; Masellis, Mario; Nacmias, Benedetta; Oumoussa, Badreddine Mohand; Jornea, Ludmila; Forlani, Sylvie; van Deerlin, Viviana; Rohrer, Jonathan D.; Gelpi, Ellen; Rademakers, Rosa; van Swieten, John; le Guern, Eric; van Broeckhoven, Christine; Ferrari, Raffaele; Génin, Emmanuelle; Brice, Alexis; le Ber, Isabelle; Auriacombe, Sophie; Belliard, Serge; Bertrand, Anne; Bissery, Anne; Blanc, Frédéric; Boncoeur, Marie-Paule; Bombois, Stéphanie; Boutoleau-Bretonnière, Claire; Ceccaldi, Mathieu; Chupin, Marie; Colliot, Olivier; Deramecourt, Vincent; Dubois, Bruno; Etcharry-Bouyx, Frédérique; Guignebert-Funkiewiez, Aurélie; Formaglio, Maïté; Habert, Marie-Odile; Hannequin, Didier; Lacomblez, Lucette; Lagarde, Julien; Lautrette, G. raldine; le Toullec, Benjamin; Levy, Richard; Mackowiak, Marie-Anne; Michel, Bernard-François; Lebouvier, Thibaud; Roué-Jagot, Carole; Thauvin-Robinet, Christel; Thomas-Anterion, Catherine; Pariente, J. rémie; Salachas, François; Sayah, Sabrina; Oya, Assi-Hervé; Rollin-Sillaire, Adeline; Vercelletto, Martine; Wallon, David; Rametti-Lacroux, Armelle; Hernandez, Dena G.; Nalls, Michael A.; Ramasamy, Adaikalavan; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Hernández, Isabel; Ruiz, Agustín; Boada, Mercè; Borroni, Barbara; Padovani, Alessandro; Cruchaga, Carlos; Cairns, Nigel J.; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Forloni, Gianluigi; Albani, Diego; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimón, Jordi; Lleó, Alberto; Blesa, Rafael; Waldö, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Baborie, Atik; Jaros, Evelyn; Tierney, Michael C.; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; Leber, Isabelle; Sorbi, Sandro; Bagnoli, Silvia; Piaceri, Irene; Nielsen, J. rgen E.; Hjermind, Lena E.; Riemenschneider, Matthias; Mayhaus, Manuel; Ibach, Bernd; Gasparoni, Gilles; Pichler, Sabrina; Gu, Wei; Rossor, Martin N.; Fox, Nick C.; Warren, Jason D.; Cappa, Stefano F.; Morris, Huw R.; Rizzu, Patrizia; Heutink, Peter; Snowden, Julie S.; Rollinson, Sara; Richardson, Anna; Gerhard, Alexander; Maletta, Raffaele; Frangipane, Francesca; Cupidi, Chiara; Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Smirne, Nicoletta; Baker, Matt; Dickson, Dennis W.; Graff-Radford, Neill R.; Petersen, Ronald C.; Knopman, David; Josephs, Keith A.; Boeve, Bradley F.; Parisi, Joseph E.; Seeley, William W.; Miller, Bruce L.; Karydas, Anna M.; Rosen, Howard; van Swieten, John C.; Dopper, Elise G. P.; Seelaar, Harro; Pijnenburg, Yolande A. L.; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A.; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Rollin, Adeline; Kapogiannis, Dimitrios; Ferrucci, Luigi; Pickering-Brown, Stuart; Singleton, Andrew B.; Hardy, John; Momeni, Parastoo; Synofzik, Matthis; Ramirez, Alfredo; Heneka, Michael; Jessen, Frank; Sanchez-Valle, Raquel; Llado, Albert; Gonzalez, Manuel Menéndez; Álvarez, Victoria; Miltenberger-Miltényi, Gabriel; Santana, Isabel; Almeida, Maria Rosário; Frisoni, Giovanni B.; Fabrizi, Gian Maria; Testi, Silvia; Kovacs, Gabor G.; Matej, Radoslav; Fraidakis, Matthew J.; Tsolaki, Magda; Letournel, Franck; Martin-Négrier, Marie-Laure; Chapon, Françoise; Godfraind, Catherine; Maurage, Claude-Alain; Meyronnet, David; Streichenberger, Nathalie; Maues de Paula, André; Rigau, Valérie; Vandenbos-Burel, Fanny; Seilhean, Danielle; Boluda, Susana; Plu, Isabelle; Milin, Serge; Chiforeanu, Dan Christian; Laquerrière, Annie; Lannes, B. atrice; Lladó, Albert; Borrego-Écija, Sergi; Hernandez, Isabel; Aguilar, Miquel; Rojas-Garcia, Ricardo; Lleo, Alberto; Sirisi, Sonia; Povedano, Monica; Ferrer, Isidre; Gascón, Jordi; Garrabou, Glòria; Lopez-Villegas, Dolores; Sabin, Jose Álvarez; Peñas, Lorena Bajo; Macho, Oscar; Collado, Isabel; de Eugenio, Rosa; Avellaneda, Ana Escrig

The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, 'SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration', Brain, vol. 144, no. 9, pp. 2798-2811. https://doi.org/10.1093/brain/awab171
Brain

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JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY; MAY 2014, 73 5, p467-p473, 7p.

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NATURE GENETICS
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Nature genetics 53(12), 1636-1648 (2021). doi:10.1038/s41588-021-00973-1
SLALOM Consortium 2021, 'Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology', Nature Genetics, vol. 53, no. 12, pp. 1636-1648. https://doi.org/10.1038/s41588-021-00973-1
et al. 2021, 'Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology', Nature Genetics, vol. 53, pp. 1636–1648. https://doi.org/10.1038/s41588-021-00973-1
Nature Genetics
Nature Genetics, vol 53, iss 12

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Cau; Daniela Loi; Andrea Calvo; Cristina Moglia; Maura Brunetti; Marco Barberis; Gabriella Restagno; Federico Casale; Giuseppe Marrali; Giuseppe Fuda; Irene Ossola; Stefania Cammarosano; Antonio Canosa; Antonio Ilardi; Umberto Manera; Maurizio Grassano; Raffaella Tanel; Fabrizio Pisano; Letizia Mazzini; Sonia Messina; Isabella L. Simone; Sandra D’Alfonso; Lucia Corrado; Luigi Ferrucci; Matthew B. Harms; David B. Goldstein; Neil A. Shneider; Stephen Goutman; Zachary Simmons; Timothy M. Miller; Siddharthan Chandran; Suvankar Pal; Georgios Manousakis; Stanley H. Appel; Ericka Simpson; Leo Wang; Robert H. Baloh; Summer Gibson; Richard Bedlack; David Lacomis; Dhruv Sareen; Alexander Sherman; Lucie Bruijn; Michelle Penny; Cristiane de Araujo Martins Moreno; Sitharthan Kamalakaran; Andrew S. Allen; Stanley Appel; Richard S. Bedlack; Braden E. Boone; Robert Brown; John P. Carulli; Alessandra Chesi; Wendy K. Chung; Elizabeth T. Cirulli; Gregory M. Cooper; Julien Couthouis; Aaron G. Day-Williams; Patrick A. Dion; Aaron D. Gitler; Jonathan D. Glass; Yujun Han; Tim Harris; Sebastian D. Hayes; Angela L. Jones; Jonathan Keebler; Brian J. Krueger; Brittany N. Lasseigne; Shawn E. Levy; Yi-Fan Lu; Tom Maniatis; Diane McKenna-Yasek; Richard M. Myers; Slavé Petrovski; Stefan M. Pulst; Alya R. Raphael; John M. Ravits; Zhong Ren; Guy A. Rouleau; Peter C. Sapp; Katherine B. Sims; John F. Staropoli; Lindsay L. Waite; Quanli Wang; Jack R. Wimbish; Winnie W. Xin; Hemali Phatnani; Justin Kwan; James R. Broach; Ximena Arcila-Londono; Edward B. Lee; Vivianna M. Van Deerlin; Ernest Fraenkel; Lyle W. Ostrow; Frank Baas; Noah Zaitlen; James D. Berry; Andrea Malaspina; Pietro Fratta; Gregory A. Cox; Leslie M. Thompson; Steve Finkbeiner; Efthimios Dardiotis; Eran Hornstein; Daniel J. MacGowan; Terry Heiman-Patterson; Molly G. Hammell; Nikolaos A. Patsopoulos; Joshua Dubnau; Avindra Nath; Rajeeva Lochan Musunuri; Uday Shankar Evani; Avinash Abhyankar; Michael C. Zody; Julia Kaye; Steven Finkbeiner; Stacia Wyman; Alexander LeNail; Leandro Lima; Jeffrey D. Rothstein; Clive N. Svendsen; Jenny Van Eyk; Nicholas J. Maragakis; Stephen J. Kolb; Merit Cudkowicz; Emily Baxi; Stacia K. Wyman; Alex LeNail; Jennifer E. Van Eyk; Michael Benatar; J. Paul Taylor; Gang Wu; Evadnie Rampersaud; Joanne Wuu; Rosa Rademakers; Stephan Züchner; Rebecca Schule; Jacob McCauley; Sumaira Hussain; Anne Cooley; Marielle Wallace; Christine Clayman; Richard Barohn; Jeffrey Statland; John Ravits; Andrea Swenson; Carlayne Jackson; Jaya Trivedi; Shaida Khan; Jonathan Katz; Liberty Jenkins; Ted Burns; Kelly Gwathmey; James Caress; Corey McMillan; Lauren Elman; Erik Pioro; Jeannine Heckmann; Yuen So; David Walk; Samuel Maiser; Jinghui Zhang; Vincenzo Silani; Cinzia Gellera; Antonia Ratti; Franco Taroni; Giuseppe Lauria; Federico Verde; Isabella Fogh; Cinzia Tiloca; Giacomo P. Comi; Gianni Sorarù; Cristina Cereda; Fabiola De Marchi; Stefania Corti; Mauro Ceroni; Gabriele Siciliano; Massimiliano Filosto; Maurizio Inghilleri; Silvia Peverelli; Claudia Colombrita; Barbara Poletti; Luca Maderna; Roberto Del Bo; Stella Gagliardi; Giorgia Querin; Cinzia Bertolin; Viviana Pensato; Barbara Castellotti; William Camu; Kevin Mouzat; Serge Lumbroso; Philippe Corcia; Vincent Meininger; Gérard Besson; Emmeline Lagrange; Pierre Clavelou; Nathalie Guy; Philippe Couratier; Patrick Vourch; Véronique Danel; Emilien Bernard; Gwendal Lemasson; Hannu Laaksovirta; Liisa Myllykangas; Lilja Jansson; Miko Valori; John Ealing; Hisham Hamdalla; Sara Rollinson; Stuart Pickering-Brown; Richard W. Orrell; Katie C. Sidle; John Hardy; Andrew B. Singleton; Janel O. Johnson; Sampath Arepalli; Meraida Polak; Seneshaw Asress; Safa Al-Sarraj; Andrew King; Claire Troakes; Caroline Vance; Jacqueline de Belleroche; Anneloor L.M.A. ten Asbroek; José Luis Muñoz-Blanco; Dena G. Hernandez; Jinhui Ding; J. Raphael Gibbs; Sonja W. Scholz; Mary Kay Floeter; Roy H. Campbell; Francesco Landi; Robert Bowser; Daniel J.L. MacGowan; Janine Kirby; Erik P. Pioro; Roger Pamphlett; James Broach; Glenn Gerhard; Travis L. Dunckley; Christopher B. Brady; Neil W. Kowall; Juan C. Troncoso; Isabelle Le Ber; Terry D. Heiman-Patterson; Freya Kamel; Ludo Van Den Bosch; Tim M. Strom; Thomas Meitinger; Aleksey Shatunov; Kristel R. Van Eijk; Mamede de Carvalho; Maarten Kooyman; Bas Middelkoop; Matthieu Moisse; Russell L. McLaughlin; Michael A. Van Es; Markus Weber; Kevin B. Boylan; Marka Van Blitterswijk; Karen E. Morrison; A. Nazli Basak; Jesús S. Mora; Vivian E. Drory; Pamela J. Shaw; Martin R. Turner; Kevin Talbot; Orla Hardiman; Kelly L. Williams; Jennifer A. Fifita; Garth A. Nicholson; Ian P. Blair; Jesús Esteban-Pérez; Alberto García-Redondo; Ammar Al-Chalabi; Ahmad Al Kheifat; Peter Andersen; Adriano Chio; Jonathan Cooper-Knock; Annelot Dekker; Vivian Drory; Alberto Garcia Redondo; Marc Gotkine; Winston Hide; Alfredo Iacoangeli; Jonathan Glass; Kevin Kenna; Matthew Kiernan; John Landers; Russell McLaughlin; Jonathan Mill; Miguel Mitne Neto; Mattieu Moisse; Jesus Mora Pardina; Karen Morrison; Stephen Newhouse; Susana Pinto; Sara Pulit; Wim Robberecht; Pamela Shaw; Chris Shaw; William Sproviero; Gijs Tazelaar; Philip van Damme; Leonard van den Berg; Rick van der Spek; Kristel van Eijk; Michael van Es; Joke van Vugt; Jan Veldink; Mayana Zatz; Denis C. Bauer; Natalie A. Twine; Ekaterina Rogaeva; Lorne Zinman; Johnathan Cooper-Knock; Alexis Brice; Stephen A. Goutman; Eva L. Feldman; Summer B. Gibson; Philip Van Damme; Albert C. Ludolph; Peter M. Andersen; Jochen H. Weishaupt; John Q. Trojanowski; Robert H. Brown; Leonard H. van den Berg; Jan H. Veldink; David J. Stone; Pentti Tienari; Adriano Chiò; Christopher E. Shaw; Bryan J. Traynor; John E. Landers

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
Neuron
1283.e
Neuron 97, 1268-1283.e6 (2018)
ITALSGEN Consortium 2018, 'Genome-wide Analyses Identify KIF5A as a Novel ALS Gene', Neuron, vol. 97, no. 6, pp. 1268-1283.e6. https://doi.org/10.1016/j.neuron.2018.02.027
Neuron, vol 97, iss 6
PMC

Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Tienari, Pentti J; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Brown, Robert H; Rogaeva, Ekaterina; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Morrison, Karen E; Pugliatti, Maura; Quattrini, Angelo; Rollinson, Sara; Silani, Vincenzo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Shaw, Pamela J; Rothstein, Jeffrey D; Santarelli, Marialuisa; Sabir, Marya S; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Scholz, Sonja W; Torriello, Antonella; Al-Chalabi, Ammar; Shaw, Christopher E; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Sendtner, Michael; Zollino, Marcella; Zucchi, Elisabetta; Landers, John E; Calvo, Andrea; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Dalgard, Clifton L; Basak, A Nazli; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Sidle, Katie C; Traynor, Bryan J; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Ticozzi, Nicola; Fallini, Claudia; Adeleye, Adelani; Gkazi, Athina Soragia; Scotter, Emma L; Kenna, Kevin P; Simmons, Zachary; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Soltis, Anthony R; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Singleton, Andrew B; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; Alba, Camille; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; Viollet, Coralie; van Blitterswijk, Marka; Turner, Martin R; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Bacikova, Dagmar; Smith, Nathan; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Veldink, Jan H; van den Berg, Leonard H; Pall, Hardev; Hupalo, Daniel N; Stone, David J; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Troncoso, Juan C; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; Jones, Ashley R; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Valori, Miko; Gerhard, Glenn; Gibson, Summer B; Glass, Jonathan D; Shatunov, Aleksey; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Van Damme, Philip; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Iacoangeli, Alfredo; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel J L; Maragakis, Nicholas J; Van Deerlin, Vivianna M; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Al Khleifat, Ahmad; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Van Den Bosch, Ludo; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Rivera, Alberto; Robberecht, Wim; Zinman, Lorne; Talbot, Kevin; Gellera, Cinzia; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Taroni, Franco; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; García-Redondo, Alberto; Cardinali, Patrizio; Carrera, Paola; Dobson-Stone, Carol; Casale, Federico; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Wu, Zheyang; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; Kwok, John B; DeMarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Bonkowski, Emily S; Giannini, Fabio; Grassano, Maurizio; Greco, Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Liguori, Rocco; Logroscino, Giancarlo; Palvadeau, Robin; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Ratti, Antonia; Manera, Umberto

JAMA Neurol
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, 'Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, 'Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598

Schijven D.; Stevelink R.; McCormack M.; van Rheenen W.; Luykx J. J.; Koeleman B. P. C.; Veldink J. H.; Aleksey Shatunov; Russell L. McLaughlin; Rick A. A. van der Spek; Alfredo Iacoangeli; Kevin P. Kenna; Kristel R. van Eijk; Nicola Ticozzi; Boris Rogelj; Katarina Vrabec; Metka Ravnik-Glavač; Blaž Koritnik; Janez Zidar; Lea Leonardis; Leja Dolenc Grošelj; Stéphanie Millecamps; François Salachas; Vincent Meininger; Mamede de Carvalho; Susana Pinto; Marta Gromicho; Ana Pronto-Laborinho; Jesus S. Mora; Ricardo Rojas-García; Meraida Polak; Siddharthan Chandran; Shuna Colville; Robert Swingler; Karen E. Morrison; Pamela J. Shaw; John Hardy; Richard W. Orrell; Alan Pittman; Katie Sidle; Pietro Fratta; Andrea Malaspina; Simon Topp; Susanne Petri; Susanna Abdulla; Carsten Drepper; Michael Sendtner; Thomas Meyer; Roel A. Ophoff; Kim A. Staats; Martina Wiedau-Pazos; Catherine Lomen-Hoerth; Vivianna M. Van Deerlin; John Q. Trojanowski; Lauren Elman; Leo McCluskey; A. 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