학술논문
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Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Academic Journal
Heather Marriott; Thomas P. Spargo; Ahmad Al Khleifat; Peter M Andersen; Nazli A. Başak; Johnathan Cooper‐Knock; Philippe Corcia; Philippe Couratier; Mamede deCarvalho; Vivian Drory; Marc Gotkine; John E. Landers; Russell McLaughlin; Jesús S. Mora Pardina; Karen E. Morrison; Susana Pinto; Christopher E. Shaw; Pamela J. Shaw; Vincenzo Silani; Nicola Ticozzi; Philip vanDamme; Leonard H. van denBerg; Patrick Vourc'h; Markus Weber; Jan H. Veldink; Project MinE ALS Sequencing Consortium; Richard J. Dobson; Patrick Schwab; Ammar Al‐Chalabi; Alfredo Iacoangeli
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Academic Journal
Lubotzky, A; Zemmour, H; Neiman, D; Gotkine, M; Loyfer, N; Piyanzin, S; Ochana, BL; Lehmann-Werman, R; Cohen, D; Moss, J; Magenheim, J; Loftus, MF; Brais, L; Ng, K; Mostoslavsky, R; Wolpin, BM; Zick, A; Maoz, M; Grinshpun, A; Kustanovich, A; Makranz, C; Cohen, JE; Peretz, T; Hubert, A; Temper, M; Salah, A; Avniel-Polak, S; Grozinsky-Glasberg, S; Spalding, KL; Rokach, A; Kaplan, T; Glaser, B; Shemer, R; Dor, Y
JCI insight. 7(2)
Academic Journal
Cappelli, Sara; Spalloni, Alida; Feiguin, Fabian; Visani, Giulia; Šušnjar, Urša; Brown, Anna-Leigh; Phatnani, Hemali; Kwan, Justin; Sareen, Dhruv; Broach, James R; Simmons, Zachary; Arcila-Londono, Ximena; Lee, Edward B; Van Deerlin, Vivianna M; Shneider, Neil A; Fraenkel, Ernest; Ostrow, Lyle W; Baas, Frank; Zaitlen, Noah; Berry, James D; Malaspina, Andrea; Fratta, Pietro; Cox, Gregory A; Thompson, Leslie M; Finkbeiner, Steve; Dardiotis, Efthimios; Miller, Timothy M; Chandran, Siddharthan; Pal, Suvankar; Hornstein, Eran; MacGowan, Daniel J; Heiman-Patterson, Terry; Hammell, Molly G; Patsopoulos, Nikolaos A; Butovsky, Oleg; Dubnau, Joshua; Nath, Avindra; Bowser, Robert; Harms, Matt; Aronica, Eleonora; Poss, Mary; Phillips-Cremins, Jennifer; Crary, John; Atassi, Nazem; Lange, Dale J; Adams, Darius J; Stefanis, Leonidas; Gotkine, Marc; Baloh, Robert H; Babu, Suma; Raj, Towfique; Paganoni, Sabrina; Shalem, Ophir; Smith, Colin; Zhang, Bin; Harris, Brent; Broce, Iris; Drory, Vivian; Ravits, John; McMillan, Corey; Menon, Vilas; De Bardi, Marco; Borsellino, Giovanna; Secrier, Maria; Romano, Maurizio; Longone, Patrizia; Buratti, Emanuele
Brain Communications. 4(5)
Academic Journal
Consortium, The NeuroLINCS; Phatnani, Hemali; Kwan, Justin; Sareen, Dhruv; Broach, James R; Simmons, Zachary; Arcila-Londono, Ximena; Lee, Edward B; Van Deerlin, Vivianna M; Shneider, Neil A; Fraenkel, Ernest; Ostrow, Lyle W; Baas, Frank; Zaitlen, Noah; Berry, James D; Malaspina, Andrea; Fratta, Pietro; Cox, Gregory A; Thompson, Leslie M; Finkbeiner, Steve; Dardiotis, Efthimios; Miller, Timothy M; Chandran, Siddharthan; Pal, Suvankar; Hornstein, Eran; MacGowan, Daniel J; Heiman-Patterson, Terry; Hammell, Molly G; Patsopoulos, Nikolaos A; Butovsky, Oleg; Dubnau, Joshua; Nath, Avindra; Bowser, Robert; Harms, Matt; Poss, Mary; Phillips-Cremins, Jennifer; Crary, John; Atassi, Nazem; Lange, Dale J; Adams, Darius J; Stefanis, Leonidas; Gotkine, Marc; Baloh, Robert H; Babu, Suma; Raj, Towfique; Paganoni, Sabrina; Shalem, Ophir; Smith, Colin; Zhang, Bin; Harris, Brent; Broce, Iris; Drory, Vivian; Ravits, John; McMillan, Corey; Menon, Vilas; Wu, Lani; Altschuler, Steven; Li, Jonathan; Lim, Ryan G; Kaye, Julia A; Dardov, Victoria; Coyne, Alyssa N; Wu, Jie; Milani, Pamela; Cheng, Andrew; Thompson, Terri G; Ornelas, Loren; Frank, Aaron; Adam, Miriam; Banuelos, Maria G; Casale, Malcolm; Cox, Veerle; Escalante-Chong, Renan; Daigle, J Gavin; Gomez, Emilda; Hayes, Lindsey; Holewenski, Ronald; Lei, Susan; Lenail, Alex; Lima, Leandro; Mandefro, Berhan; Matlock, Andrea; Panther, Lindsay; Patel-Murray, Natasha Leanna; Pham, Jacqueline; Ramamoorthy, Divya; Sachs, Karen; Shelley, Brandon; Stocksdale, Jennifer; Trost, Hannah; Wilhelm, Mark; Venkatraman, Vidya; Wassie, Brook T; Wyman, Stacia; Yang, Stephanie; Consortium, NYGC ALS; Van Eyk, Jennifer E; Lloyd, Thomas E; Finkbeiner, Steven
iScience. 24(11)
Academic Journal
van Rheenen, Wouter; van der Spek, Rick AA; Bakker, Mark K; van Vugt, Joke JFA; Hop, Paul J; Zwamborn, Ramona AJ; 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 HP; 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; Başak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D’Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, 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, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S; Assialioui, Abdelilah; Rojas-García, 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 AM; Saker-Delye, Safa; Wood, Nicholas W; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia
Nature Genetics. 53(12)
Academic Journal
Marriott H; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Spargo TP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Al Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Andersen PM; Department of Clinical Science, Umeå University, Umeå, SE-901 85, Sweden.; Başak NA; Translational Medicine Research Center, NDAL, School of Medicine, Koc University, Istanbul, 34450, Turkey.; Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, S10 2HQ, UK.; Corcia P; UMR 1253, Université de Tours, Inserm, Tours, 37044, France.; Centre de référence sur la SLA, CHU de Tours, Tours, 37044, France.; Couratier P; Centre de référence sur la SLA, CHRU de Limoges, Limoges, France.; UMR 1094, Université de Limoges, Inserm, Limoges, 87025, France.; de Carvalho M; Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, 1649-028, Portugal.; Drory V; Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, 64239, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 6997801, Israel.; Gotkine M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, 91904, Israel.; Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah Medical Center, Jerusalem, 91120, Israel.; Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, 01655, USA.; McLaughlin R; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, D02 PN40, Ireland.; Pardina JSM; ALS Unit, Hospital San Rafael, Madrid, Spain.; Morrison KE; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, BT9 7BL, UK.; Pinto S; Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, 1649-028, Portugal.; Shaw CE; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, S10 2HQ, UK.; Silani V; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, 20149, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, 20122, Italy.; Ticozzi N; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, 20149, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, 20122, Italy.; van Damme P; Experimental Neurology and Leuven Brain Institute (LBI), Leuven, 3000, Belgium.; VIB, Center for Brain and Disease Research, Leuven, 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, 3000, Belgium.; van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center, Utrecht, 3584 CX, Netherlands.; Vourc'h P; UMR 1253, Université de Tours, Inserm, Tours, 37044, France.; Service de Biochimie et Biologie molécularie, CHU de Tours, Tours, 37044, France.; Weber M; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, 9007, Switzerland.; Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center, Utrecht, 3584 CX, Netherlands.; Dobson RJ; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.; Institute of Health Informatics, University College London, London, NW1 2DA, UK.; NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust, London, UK.; Schwab P; GlaxoSmithKline, Artificial Intelligence and Machine Learning, London, UK.; Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; King's College Hospital, London, SE5 9RS, UK.; Iacoangeli A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.
Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Academic Journal
van Rheenen, W; van der Spek, RAA; Bakker, MK; van Vugt, JJFA; Hop, PJ; Zwamborn, RAJ; de Klein, N; Westra, HJ; Bakker, OB; Deelen, P; Shireby, G; Hannon, E; Moisse, M; Baird, D; Restuadi, R; Dolzhenko, E; Dekker, AM; Gawor, K; Westeneng, HJ; Tazelaar, GHP; van Eijk, KR; Kooyman, M; Byrne, RP; Doherty, M; Heverin, M; Al Khleifat, A; Iacoangeli, A; Shatunov, A; Ticozzi, N; Cooper-Knock, J; Smith, BN; Gromicho, M; Chandran, S; Pal, S; Morrison, KE; Shaw, PJ; Hardy, J; Orrell, RW; Sendtner, M; Meyer, T; Basak, N; van der Kooi, AJ; Ratti, A; Fogh, I; Gellera, C; Lauria, G; Corti, S; Cereda, C; Sproviero, D; D'Alfonso, S; Soraru, G; Siciliano, G; Filosto, M; Padovani, A; Chio, A; Calvo, A; Moglia, C; Brunetti, M; Canosa, A; Grassano, M; Beghi, E; Pupillo, E; Logroscino, G; Nefussy, B; Osmanovic, A; Nordin, A; Lerner, Y; Zabari, M; Gotkine, M; Baloh, RH; Bell, S; Vourc'h, P; Corcia, P; Couratier, P; Millecamps, S; Meininger, V; Salachas, F; Pardina, JMS; Assialioui, A; Rojas-Garcia, R; Dion, PA; Ross, JP; Ludolph, AC; Weishaupt, JH; Brenner, D; Freischmidt, A; Bensimon, G; Brice, A; Durr, A; Payan, CAM; Saker-Delye, S; Wood, NW; Topp, S; Rademakers, R; Tittmann, L; Lieb, W; Franke, A; Ripke, S; Braun, A; Kraft, J; Whiteman, DC; Olsen, CM; Uitterlinden, AG; Hofman, A; Rietschel, M; Cichon, S; Nothen, MM; Amouyel, P; Comi, G; Riva, N; Lunetta, C; Gerardi, F; Cotelli, MS; Rinaldi, F; Chiveri, L; Guaita, MC; Perrone, P; Ceroni, M; Diamanti, L; Ferrarese, C; Tremolizzo, L; Delodovici, ML; Bono, G; Manera, U; Vasta, R; Bombaci, A; Casale, F; Fuda, G; Salamone, P; Iazzolino, B; Peotta, L; Cugnasco, P; De Marco, G; Torrieri, MC; Palumbo, F; Gallone, S; Barberis, M; Sbaiz, L; Gentile, S; Mauro, A; Mazzini, L; De Marchi, F; Corrado, L; Bertolotto, A; Gionco, M; Leotta, D; Odddenino, E; Imperiale, D; Cavallo, R; Pignatta, P; De Mattei, M; Geda, C; Papurello, DM; Gusmaroli, G; Comi, C; Labate, C; Ruiz, L; Ferrandi, D; Rota, E; Aguggia, M; Di Vito, N; Meineri, P; Ghiglione, P; Launaro, N; Dotta, M; Di Sapio, A; Giardini, G; Tiloca, C; Peverelli, S; Taroni, F; Pensato, V; Castellotti, B; Comi, GP; Del Bo, R; Gagliardi, S; Raggi, F; Simoncini, C; Lo Gerfo, A; Inghilleri, M; Ferlini, A; Simone, IL; Passarella, B; Guerra, V; Zoccolella, S; Nozzoli, C; Mundi, C; Leone, M; Zarrelli, M; Tamma, F; Valluzzi, F; Calabrese, G; Boero, G; Rini, A; Traynor, BJ; Singleton, AB; Neto, MM; Cauchi, RJ; Ophoff, RA; Wiedau-Pazos, M; Lomen-Hoerth, C; van Deerlin, VM; Grosskreutz, J; Roediger, A; Gaur, N; Jork, A; Barthel, T; Theele, E; Ilse, B; Stubendorff, B; Witte, OW; Steinbach, R; Hubner, CA; Graff, C; Brylev, L; Fominykh, V; Demeshonok, V; Ataulina, A; Rogelj, B; Koritnik, B; Zidar, J; Ravnik-Glavac, M; Glavac, D; Stevic, Z; Drory, V; Povedano, M; Blair, IP; Kiernan, MC; Benyamin, B; Henderson, RD; Furlong, S; Mathers, S; McCombe, PA; Needham, M; Ngo, ST; Nicholson, GA; Pamphlett, R; Rowe, DB; Steyn, FJ; Williams, KL; Mather, KA; Sachdev, PS; Henders, AK; Wallace, L; de Carvalho, M; Pinto, S; Petri, S; Weber, M; Rouleau, GA; Silani, V; Curtis, CJ; Breen, G; Glass, JD; Brown, RH; Landers, JE; Shaw, CE; Andersen, PM; Groen, EJN; van Es, MA; Pasterkamp, RJ; Fan, DS; Garton, FC; McRae, AF; Smith, GD; Gaunt, TR; Eberle, MA; Mill, J; McLaughlin, RL; Hardiman, O; Kenna, KP; Wray, NR; Tsai, EL; Runz, H; Franke, L; Al-Chalabi, A; Van Damme, P; van den Berg, LH; Veldink, JH
Nature genetics. 54(3):361-361
Academic Journal
Brett N. Adey; Johnathan Cooper-Knock; Ahmad Al Khleifat; Isabella Fogh; Philip van Damme; Philippe Corcia; Philippe Couratier; Orla Hardiman; Russell McLaughlin; Marc Gotkine; Vivian Drory; Vincenzo Silani; Nicola Ticozzi; Jan H. Veldink; Leonard H. van den Berg; Mamede de Carvalho; Susana Pinto; Jesus S. Mora Pardina; Mónica Povedano Panades; Peter M. Andersen; Markus Weber; Nazli A. Başak; Christopher E. Shaw; Pamela J. Shaw; Karen E. Morrison; John E. Landers; Jonathan D. Glass; Patrick Vourc’h; Richard J. B. Dobson; Gerome Breen; Ammar Al-Chalabi; Ashley R. Jones; Alfredo Iacoangeli
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Academic Journal
Academic Journal
Lasry R; Department of Developmental Biology and Cancer Research (RL), The Hebrew University-Hadassah Medical School, Jerusalem, Israel; and Departments of Neurology (MG) and Ophthalmology (JMK), Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Gotkine M; Kruger JM
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE
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