1
TÍTULO: Genetic variability in sporadic amyotrophic lateral sclerosis  Full Text
AUTORES: Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J. F. A.; Zwamborn, Ramona A. J.; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesus S.; Povedano, Monica; Andersen, Peter M.; Weber, Markus; Basak, Nazli A.; Shaw, Chris; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; van Es, Michael A.; van den Berg, Leonard H.; Al Chalabi, Ammar; Veldink, Jan; Van Damme, Philip; ...Mais
PUBLICAÇÃO: 2023, FONTE: BRAIN, VOLUME: 146, NÚMERO: 9
INDEXADO EM: Scopus WOS
2
TÍTULO: Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
AUTORES: Al Khleifat, A; Iacoangeli, A; van Vugt, JJFA; Bowles, H; Moisse, M; Zwamborn, RAJ; van der Spek, RAA; Shatunov, A; Cooper Knock, J; Topp, S; Byrne, R; Gellera, C; Lopez, V; Jones, AR; Opie Martin, S; Vural, A; Campos, Y; van Rheenen, W; Kenna, B; Van Eijk, KR; Kenna, K; Weber, M; Smith, B; Fogh, I; Silani, V; Morrison, KE; Dobson, R; van Es, MA; McLaughlin, RL; Vourc'h, P; Chio, A; Corcia, P; de Carvalho, M; Gotkine, M; Panades, MP; Mora, JS; Shaw, PJ; Landers, JE; Glass, JD; Shaw, CE; Basak, N; Hardiman, O; Robberecht, W; Van Damme, P; van den Berg, LH; Veldink, JH; Al Chalabi, A; ...Mais
PUBLICAÇÃO: 2022, FONTE: NPJ GENOMIC MEDICINE, VOLUME: 7, NÚMERO: 1
INDEXADO EM: Scopus WOS
3
TÍTULO: Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)
AUTORES: Wouter van Rheenen; Rick A A van der Spek; Mark K Bakker; Joke J F A van Vugt; Paul J Hop; Ramona A J Zwamborn; Niek de Klein; Harm Jan Westra; Olivier B Bakker; Patrick Deelen; Gemma Shireby; Eilis Hannon; Matthieu Moisse; Denis Baird; Restuadi Restuadi; Egor Dolzhenko; Annelot M Dekker; Klara Gawor; Henk Jan Westeneng; Gijs H P Tazelaar; Kristel R van Eijk; Maarten Kooyman; Ross P Byrne; Mark Doherty; Mark Heverin; Ahmad Al Khleifat; Alfredo Iacoangeli; Aleksey Shatunov; Nicola Ticozzi; Johnathan Cooper Knock; Bradley N Smith; Marta Gromicho; Siddharthan Chandran; Suvankar Pal; Karen E Morrison; Pamela J Shaw; John Hardy; Richard W Orrell; Michael Sendtner; Thomas Meyer; Nazli Başak; Anneke J van der Kooi; Antonia Ratti; Isabella Fogh; Cinzia Gellera; Giuseppe Lauria; Stefania Corti; Cristina Cereda; Daisy Sproviero; Sandra D’Alfonso; Gianni Sorarù; Gabriele Siciliano; Massimiliano Filosto; Alessandro Padovani; Adriano Chiò; Andrea Calvo; Cristina Moglia; Maura Brunetti; Antonio Canosa; Maurizio Grassano; Ettore Beghi; Elisabetta Pupillo; Giancarlo Logroscino; Beatrice Nefussy; Alma Osmanovic; Angelica Nordin; Yossef Lerner; Michal Zabari; Marc Gotkine; Robert H Baloh; Shaughn Bell; Patrick Vourc’h; Philippe Corcia; Philippe Couratier; Stéphanie Millecamps; Vincent Meininger; François Salachas; Jesus S Mora Pardina; Abdelilah Assialioui; Ricardo Rojas García; Patrick A Dion; Jay P Ross; Albert C Ludolph; Jochen H Weishaupt; David Brenner; Axel Freischmidt; Gilbert Bensimon; Alexis Brice; Alexandra Durr; Christine A M Payan; Safa Saker Delye; Nicholas W Wood; Simon Topp; Rosa Rademakers; Lukas Tittmann; Wolfgang Lieb; Andre Franke; Stephan Ripke; Alice Braun; Julia Kraft; ...Mais
PUBLICAÇÃO: 2022, FONTE: Nature Genetics
INDEXADO EM: Scopus
4
TÍTULO: Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
AUTORES: Hop, PJ; Zwamborn, RAJ; Hannon, E; Shireby, GL; Nabais, MF; Walker, EM; van Rheenen, W; van Vugt, JJFA; Dekker, AM; Westeneng, HJ; Tazelaar, GHP; van Eijk, KR; Moisse, M; Baird, D; Al Khleifat, A; Iacoangeli, A; Ticozzi, N; Ratti, A; Cooper Knock, J; Morrison, KE; Shaw, PJ; Basak, AN; Chio, A; Calvo, A; Moglia, C; Canosa, A; Brunetti, M; Grassano, M; Gotkine, M; Lerner, Y; Zabari, M; Vourc'h, P; Corcia, P; Couratier, P; Pardina, JSM; Salas, T; Dion, P; Ross, JP; Henderson, RD; Mathers, S; McCombe, PA; Needham, M; Nicholson, G; Rowe, DB; Pamphlett, R; Mather, KA; Sachdev, PS; Furlong, S; Garton, FC; Henders, AK; Lin, T; Ngo, ST; Steyn, FJ; Wallace, L; Williams, KL; Neto, MM; Cauchi, RJ; Blair, IP; Kiernan, MC; Drory, V; Povedano, M; de Carvalho, M; Pinto, S; Weber, M; Rouleau, GA; Silani, V; Landers, JE; Shaw, CE; Andersen, PM; McRae, AF; van Es, MA; Pasterkamp, RJ; Wray, NR; McLaughlin, RL; Hardiman, O; Kenna, KP; Tsai, E; Runz, H; Al Chalabi, A; van den Berg, LH; Van Damme, P; Mill, J; Veldink, JH; ...Mais
PUBLICAÇÃO: 2022, FONTE: SCIENCE TRANSLATIONAL MEDICINE, VOLUME: 14, NÚMERO: 633
INDEXADO EM: Scopus WOS
5
TÍTULO: Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data  Full Text
AUTORES: Al Khleifat, A; Iacoangeli, A; Jones, AR; van Vugt, JJFA; Moisse, M; Shatunov, A; Zwamborn, RAJ; van der Spek, RAA; Cooper Knock, J; Topp, S; van Rheenen, W; Kenna, B; Van Eijk, KR; Kenna, K; Byrne, R; López, V; Opie Martin, S; Vural, A; Campos, Y; Weber, M; Smith, B; Fogh, I; Silani, V; Morrison, KE; Dobson, R; van Es, MA; McLaughlin, RL; Vourc’h, P; Chio, A; Corcia, P; de Carvalho, M; Gotkine, M; Panades, MP; Mora, JS; Shaw, PJ; Landers, JE; Glass, JD; Shaw, CE; Basak, N; Hardiman, O; Robberecht, W; Van Damme, P; van den Berg, LH; Veldink, JH; Al Chalabi, A; Project MinE Consortium the; ...Mais
PUBLICAÇÃO: 2022, FONTE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 16
INDEXADO EM: Scopus WOS
6
TÍTULO: The Effect of SMN Gene Dosage on ALS Risk and Disease Severity  Full Text
AUTORES: Moisse, M; Zwamborn, RAJ; van Vugt, J; van der Spek, R; van Rheenen, W; Kenna, B; Van Eijk, K; Kenna, K; Corcia, P; Couratier, P; Vourc'h, P; Hardiman, O; McLaughin, R; Gotkine, M; Drory, V; Ticozzi, N; Silani, V; de Carvalho, M; Pardina, JSM; Povedano, M; Andersen, PM; Weber, M; Basak, NA; Chen, X; Eberle, MA; Al Chalabi, A; Shaw, C; Shaw, PJ; Morrison, KE; Landers, JE; Glass, JD; Robberecht, W; van Es, M; van den Berg, L; Veldink, J; Van Damme, P; ...Mais
PUBLICAÇÃO: 2021, FONTE: ANNALS OF NEUROLOGY
INDEXADO EM: Scopus WOS