-
1Academic Journal
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
2Academic Journal
المؤلفون: Thanh T. Hoang, Yunsung Lee, Daniel L. McCartney, Elin T.G. Kersten, Christian M. Page, Paige M. Hulls, Mikyeong Lee, Rosie M. Walker, Charles E. Breeze, Brian D. Bennett, Adam B. Burkholder, James Ward, Anne Lise Brantsæter, Ida H. Caspersen, Alison A. Motsinger-Reif, Marie Richards, Julie D. White, Shanshan Zhao, Rebecca C. Richmond, Maria C. Magnus, Gerard H. Koppelman, Kathryn L. Evans, Riccardo E. Marioni, Siri E. Håberg, Stephanie J. London, Bastiaan Heijmans, Peter ’t Hoen, Joyce van Meurs, Rick Jansen, Lude Franke, Dorret Boomsma, René Pool, Jenny van Dongen, Jouke Hottenga, Marleen van Greevenbroek, Coen Stehouwer, Carla van der Kallen, Casper Schalkwijk, Cisca Wijmenga, Sasha Zhernakova, Ettje Tigchelaar, P. Eline Slagboom, Marian Beekman, Joris Deelen, Diana Van Heemst, Jan Veldink, Leonard van den Berg, Cornelia van Duijn, Bert Hofman, Aaron Isaacs, André Uitterlinden, P. Mila Jhamai, Michael Verbiest, H. Eka Suchiman, Marijn Verkerk, Ruud van der Breggen, Jeroen van Rooij, Nico Lakenberg, Hailiang Mei, Maarten van Iterson, Michiel van Galen, Jan Bot, Dasha Zhernakova, Peter van ‘t Hof, Patrick Deelen, Irene Nooren, Matthijs Moed, Martijn Vermaat, René Luijk, Marc Bonder, Freerk van Dijk, Wibowo Arindrarto, Szymon Kielbasa, Morris Swertz, Erik van Zwet
المصدر: EBioMedicine, Vol 100, Iss , Pp 104956- (2024)
مصطلحات موضوعية: Illumina EPIC array, Epigenomics, Secondhand smoke exposure, Dietary intake, Sex difference, Smoking cessation, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
-
3Academic JournalThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
4Academic Journal
المؤلفون: Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass
المصدر: Cell Reports, Vol 33, Iss 9, Pp 108456- (2020)
مصطلحات موضوعية: amyotrophic lateral sclerosis, whole-genome sequencing, CAV1, CAV2, non-coding DNA, gene enhancers, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
5Academic Journal
المؤلفون: Priyanka Parmar, Estelle Lowry, Giovanni Cugliari, Matthew Suderman, Rory Wilson, Ville Karhunen, Toby Andrew, Petri Wiklund, Matthias Wielscher, Simonetta Guarrera, Alexander Teumer, Benjamin Lehne, Lili Milani, Niek de Klein, Pashupati P. Mishra, Phillip E. Melton, Pooja R. Mandaviya, Silva Kasela, Jana Nano, Weihua Zhang, Yan Zhang, Andre G. Uitterlinden, Annette Peters, Ben Schöttker, Christian Gieger, Denise Anderson, Dorret I. Boomsma, Hans J. Grabe, Salvatore Panico, Jan H. Veldink, Joyce B.J. van Meurs, Leonard van den Berg, Lawrence J. Beilin, Lude Franke, Marie Loh, Marleen M.J. van Greevenbroek, Matthias Nauck, Mika Kähönen, Mikko A. Hurme, Olli T. Raitakari, Oscar H. Franco, P.Eline Slagboom, Pim van der Harst, Sonja Kunze, Stephan B. Felix, Tao Zhang, Wei Chen, Trevor A. Mori, Amelie Bonnefond, Bastiaan T. Heijmans, Taulant Muka, Jaspal S. Kooner, Krista Fischer, Melanie Waldenberger, Philippe Froguel, Rae-Chi Huang, Terho Lehtimäki, Wolfgang Rathmann, Caroline L. Relton, Giuseppe Matullo, Hermann Brenner, Niek Verweij, Shengxu Li, John C. Chambers, Marjo-Riitta Järvelin, Sylvain Sebert
المصدر: EBioMedicine, Vol 38, Iss , Pp 206-216 (2018)
مصطلحات موضوعية: Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
-
6Academic Journal
المؤلفون: Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)
مصطلحات موضوعية: amyotrophic lateral sclerosis, RNA binding proteins, oligogenic inheritance, C9ORF72, DNA sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
-
7Academic Journal
المؤلفون: Paul J McLaren, Cédric Coulonges, Stephan Ripke, Leonard van den Berg, Susan Buchbinder, Mary Carrington, Andrea Cossarizza, Judith Dalmau, Steven G Deeks, Olivier Delaneau, Andrea De Luca, James J Goedert, David Haas, Joshua T Herbeck, Sekar Kathiresan, Gregory D Kirk, Olivier Lambotte, Ma Luo, Simon Mallal, Daniëlle van Manen, Javier Martinez-Picado, Laurence Meyer, José M Miro, James I Mullins, Niels Obel, Stephen J O'Brien, Florencia Pereyra, Francis A Plummer, Guido Poli, Ying Qi, Pierre Rucart, Manj S Sandhu, Patrick R Shea, Hanneke Schuitemaker, Ioannis Theodorou, Fredrik Vannberg, Jan Veldink, Bruce D Walker, Amy Weintrob, Cheryl A Winkler, Steven Wolinsky, Amalio Telenti, David B Goldstein, Paul I W de Bakker, Jean-François Zagury, Jacques Fellay
المصدر: PLoS Pathogens, Vol 9, Iss 7, p e1003515 (2013)
مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
8
المؤلفون: Robert McFarlane, Miriam Galvin, Mark Heverin, Éanna Mac Domhnaill, Deirdre Murray, Dara Meldrum, Peter Bede, Anthony Bolger, Lucy Hederman, Sinéad Impey, Gaye Stephens, Ciara O’Meara, Vincent Wade, Ammar Al-Chalabi, Adriano Chiò, Phillippe Corcia, Philip van Damme, Caroline Ingre, Christopher McDermott, Monica Povedanos, Leonard van den Berg, Orla Hardiman
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. :1-5
مصطلحات موضوعية: amyotrophic lateral sclerosis, Science & Technology, scientific collaboration, Neurology, Precision medicine, Clinical Neurology, Neurosciences & Neurology, data science, Neurology (clinical), Life Sciences & Biomedicine
وصف الملف: Print-Electronic
-
9
المؤلفون: Linus Sun, Richard Tsai, Ernie Yulyaningsih, Melania Fanok, Maurits Vissers, Jules Heuberger, Brittany Flores, Fen Huang, Lesley Kane, Isaac Cohen, Shyeilla Dhuria, Meng Fang, Anthony Estrada, Maksim Osipov, Brent Willman-Yoswa, Romeo Maciuca, Sarah Dobbins, Ronnie Chau, Timothy Earr, Hoang Nguyen, Isabel Lopez, Kimberly Scearce-Levie, Tommy Bunte, Leonard Van den Berg, Carole Ho, Geert-Jan Groeneveld, Matthew Troyer
المصدر: Tuesday, April 25.
-
10Academic Journal
المؤلفون: Ammar Al-Chalabi, Pamela Shaw, Nigel Leigh, Leonard van den Berg, Orla Hardiman, Albert Ludolph, Valtteri V Aho, Toni Sarapohja, Mikko Kuoppamäki
مصطلحات موضوعية: levosimendan, SVC, respiratory function, amyotrophic lateral sclerosis
-
11
المصدر: Clinical Neurophysiology. 150:e121
مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems
-
12
المؤلفون: Polly Kennedy, Éilís Conroy, Mark Heverin, Iracema Leroi, Anita Beelen, Leonard van den Berg, Orla Hardiman, Miriam Galvin
المصدر: International Journal of Geriatric Psychiatry. 37
مصطلحات موضوعية: Psychiatry and Mental health, Geriatrics and Gerontology
-
13Academic Journal
المؤلفون: Merit Cudkowicz 1, Angela Genge 2, Nicholas Maragakis 3, Susanne Petri 4, Leonard van den Berg 5, Valtteri V Aho 6, Toni Sarapohja 6, Mikko Kuoppamäki 6, Chris Garratt 6, Ammar Al-Chalabi 7, Gabriele Siciliano, REFALS investigators
المساهمون: 1, Merit Cudkowicz, 2, Angela Genge, 3, Nicholas Maragaki, 4, Susanne Petri, 5, Leonard van den Berg, V Aho 6, Valtteri, 6, Toni Sarapohja, 6, Mikko Kuoppamäki, 6, Chris Garratt, 7, Ammar Al-Chalabi, Siciliano, Gabriele, Investigators, Refals
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/34536404; volume:20; issue:10; firstpage:821; lastpage:831; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/11568/1141398
الاتاحة: http://hdl.handle.net/11568/1141398
https://doi.org/10.1016/S1474-4422(21)00242-8 -
14
المصدر: Clinical Neurophysiology. 141:S161
مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems
-
15
المؤلفون: Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, 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, Stefan M. Pulst, John M. Ravits, 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, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, 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, Rosa Rademakers, 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, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, 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, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, 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, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, 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, 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, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, 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, 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
المساهمون: Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, 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, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, 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, Jame, 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, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús 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-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, 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, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
المصدر: Neuron, 97(6), 1268. Cell Press
Neuron, 97(6), 1268
Neuron
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
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
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:97مصطلحات موضوعية: Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
وصف الملف: image/pdf; application/pdf; text
-
16
المؤلفون: Grace Chen, Dave Mclean, Andrea t' Mannetje, Wendyl D'Souza, Melanie McConnell, Leonard van den Berg, Hans Kromhout, Neil Pearce, Jeroen Douwes, Anke Huss, Roel Vermeulen
المصدر: Neurological Effects.
مصطلحات موضوعية: education.field_of_study, Occupational risk, business.industry, Population, Odds ratio, medicine.disease, Logistic regression, Lifestyle factors, Exposure group, medicine, Occupational exposure, business, education, Motor neurone disease, Demography
-
17
المؤلفون: Nadia Sutedja, Jan Veldink, Kathelijn Fischer, Hans Kromhout, Dick Heederik, Mark Huisman, John Wokke, Leonard Van Den Berg
المصدر: Amyotrophic Lateral Sclerosis. :1-20
مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine
-
18
المؤلفون: Nadia Sutedja, Kathelijn Fischer, Jan Veldink, Geert Van Der Heijden, Hans Kromhout, Dick Heederik, Mark Huisman, John Wokke, Leonard Van Den Berg
المصدر: Amyotrophic Lateral Sclerosis. :1-19
مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine
-
19Academic Journal
المؤلفون: Stacy Steinberg, Simone De Jong, Irish Schizophrenia, Genomics Consortium, Ole A Andreassen, Thomas Werge, Anders D Børglum, Ole Mors, Preben B Mortensen, Omar Gustafsson, Javier Costas, Olli P H Pietiläinen, Ditte Demontis, Sergi Papiol, Johanna Huttenlocher, Manuel Mattheisen, René Breuer, Evangelos Vassos, Ina Giegling, Gillian Fraser, Nicholas Walker, Annamari Tuulio-Henriksson, Jaana Suvisaari, Jouko Lönnqvist, Tiina Paunio, Ingrid Agartz, Ingrid Melle, Srdjan Djurovic, Eric Strengman, GROUP † Gesche Jürgens, Birte Glenthøj, Lars Terenius, David M Hougaard, Torben Ørntoft, Carsten Wiuf, Michael Didriksen, Mads V Hollegaard, Merete Nordentoft, Ruud Van Winkel, Gunter Kenis, Lilia Abramova, Vasily Kaleda, Manuel Arrojo, Julio Sanjuán, Celso Arango, Swetlana Sperling, Moritz Rossner, Michele Ribolsi, Valentina Magni, Alberto Siracusano, Claus Christiansen, Lambertus A Kiemeney, Jan Veldink, Leonard Van Den Berg, Andres Ingason, Pierandrea Muglia, Robin Murray, Markus M Nöthen, Engilbert Sigurdsson, Hannes Petursson, Unnur Thorsteinsdottir, Augustine Kong, I Alex Rubino, Marc De Hert, János M Réthelyi, István Bitter, Erik G Jönsson, Vera Golimbet, Angel Carracedo, Hannelore Ehrenreich, Nick Craddock, Michael J Owen, Michael C O'donovan, Mirella Ruggeri, Sarah Tosato, Leena Peltonen, Roel A Ophoff, David A Collier, David St Clair, Marcella Rietschel, Sven Cichon, Hreinn Stefansson, Dan Rujescu, Kari Stefansson
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1035.9092; http://hmg.oxfordjournals.org/content/early/2011/07/26/hmg.ddr325.full.pdf
-
20Academic Journal
المؤلفون: Sanne Piepers, Renske Van Den Berg-vos, W-ludo Van Der Pol, Hessel Franssen, Leonard Van Den Berg
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: multifocal motor neuropathy, immune-mediated neuropathy, immunosuppressant, treatment, immunoglobulins Abbreviations, MMNmultifocal motor neuropathy, IVIg intravenous human immunoglobulins, MMFmycophenolate mofetil, MMTma
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.497.8870; http://brain.oxfordjournals.org/content/130/8/2004.full.pdf