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Identificadas 13

TÃTULO: Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival Full Text
AUTORES: Adey, Brett N.; Cooper Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Pardina, Jesus S. Mora S.; Panades, Monica Povedano; Andersen, Peter M.; Weber, Markus; Basak, Nazli A.; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; Vourc'h, Patrick; Dobson, Richard J. B.; Breen, Gerome; Al Chalabi, Ammar; Jones, Ashley R.; Iacoangeli, Alfredo; ...Mais
PUBLICAÇÃO: 2023, FONTE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 17

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TÃTULO: 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

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TÃTULO: 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

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TÃTULO: Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis Full Text
AUTORES: Tazelaar, Gijs H. P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J. F. A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; Hardiman, Orla; Van Damme, Philip; de Carvalho, Mamede; Neuwirth, Christoph; Weber, Markus; Andersen, Peter M.; van den Berg, Leonard H.; Veldink, Jan H.; van Es, Michael A.; ...Mais
PUBLICAÇÃO: 2022, FONTE: NEUROBIOLOGY OF AGING, VOLUME: 122

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TÃTULO: 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

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TÃTULO: 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

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TÃTULO: Medical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles
AUTORES: Young, C; Pinto, S; Grosskreutz, J; Hardiman, O; Clawson, LL; Cudkowicz, ME; Andrews, JA;
PUBLICAÇÃO: 2021, FONTE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION

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TÃTULO: Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort Full Text
AUTORES: Gij S H P Tazelaar; Annelot M Dekker; Joke J F A van Vugt; Rick A van der Spek; Henk Jan Westeneng; Lindy J B G Kool; Kevin P Kenna; Wouter van Rheenen; Sara L Pulit; Russell L McLaughlin; William Sproviero; Alfredo Iacoangeli; Annemarie Huebers; David Brenner; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Monica P Povedano Panades; Jesus S M Mora Pardina; Jonathan D Glass; Orla Hardiman; Ammar Al Chalabi; Philip van Damme; Wim Robberecht; John E Landers; Albert C Ludolph; Jochen H Weishaupt; Leonard H van den Berg; Jan H Veldink; Michael A van Es; Fulya Akcimen; Ahmad Al Khleifat; Peter Andersen; Nazli N Basak; Denis C Bauer; Ian Blair; William J Brands; Ross P Byrne; Andrea Calvo; Yolanda Campos Gonzalez; Adriano Chio; Jonothan Cooper Knock; Philippe Corcia; Philippe Couratier; Mamede de Carvalho; Vivian E Drory; Chen Eitan; Alberto G Garcia Redondo; Cinzia Gellera; Marc Gotkine; Eran Hornstein; Brendan Kenna; Matthew C Kiernan; Cemile Kocoglu; Maarten Kooyman; Victoria L Lopez Alonso; Bas Middelkoop; Jonathan Mill; Miguel Mitne Neto; Matthieu Moisse; Susana C Pinto ; Antonia Ratti; Raymond D Schellevis; Aleksey Shatunov; Vincenzo Silani; Christine Staiger; Gijs H P Tazelaar; Nicola Ticozzi; Ceren Tunca; Nathalie A Twine; Perry T C van Doormaal; Kristel R van Eijk; Peter M Visscher; Patrick Vourch; Markus Weber; Kelly L Williams; Naomi Wray; Jian Yang; Mayana Zatz; Katharine Zhang; ...Mais
PUBLICAÇÃO: 2019, FONTE: NEUROBIOLOGY OF AGING, VOLUME: 74

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TÃTULO: A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis
AUTORES: Jeremy M Shefner; Merit E Cudkowicz; Orla Hardiman; Bettina M Cockroft; Jacqueline H Lee; Fady I Malik; Lisa Meng; Stacy A Rudnicki; Andrew A Wolff; Jinsy A Andrews; Philip Van Damme; Lawrence Korngut; Wendy Johnston; Colleen O'Connell; Ian Grant; John Turnbull; Christen Shoesmith; Lorne Zinman; Stephan Botez; Angela Genge; Annie Dionne; Philippe Couratier; Shahram Attarian; Jean Pouget; William Camu; Claude Desnuelle; Francois Salachas; Philippe Corcia; Thomas Meyer; Susanne Petri; Albert Ludolph; Andrea Calvo; Christian Lunetta; Vincenzo Silani; Leonard van den Berg; Mamede de Carvalho; Jesus M Mora Pardina; Carolyn Young; Ammar Al Chalabi; Aleksander Radunovic; Clemens Hanemann; Shafeeq Ladha; Namita Goyal; John Ravits; Richard Lewis; Nanette Joyce; Bjorn Oskarsson; Jonathan S Katz; Yuen So; Dianna Quan; Kevin Felice; Elham Bayat; Kevin Boylan; Michael G Benatar; Vu, T; Jonathan Glass; Robert Sufit; Cynthia Bodkin; Andrea Swenson; Jeffrey Statland; Nicholas Maragakis; James Berry; Robert Brown; Johnny Salameh; Stephen Goutman; Daniel S Newman; Gaurav Guliani; Samuel Maiser; Alan Pestronk; Ghazala Hayat; Gary Pattee; Jeffrey Cohen; Benjamin Brooks; Richard Bedlack; James Caress; Hiroshi Mitsumoto; Dale Lange; Deborah Bradshaw; Stephen J Kolb; Chafic Karam; Julie Khoury; Kimberly Goslin; Zachary Simmons; Leo Mc Cluskey; Terry Heiman Patterson; Peter Donofrio; Daragh Heitzman; Yadollah Harati; Carlayne Jackson; Lawrence Phillips; Michael Weiss; Christopher Nance; Shumaila Sultan; Paul Barkhaus; ...Mais
PUBLICAÇÃO: 2019, FONTE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 20, NÚMERO: 7-8

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TÃTULO: New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia Full Text
AUTORES: Laura Valverde; Maria J Jose Illescas; Patricia Villaescusa; Amparo M Gotor; Ainara Garcia; Sergio Cardoso; Jaime Algorta; Susana Catarino; Karen Rouault; Claude Ferec; Orla Hardiman; Maite Zarrabeitia; Susana Jimenez; Maria Fatima Pinheiro; Begona M Jarreta; Jill Olofsson; Niels Morling; Marian M de Pancorbo;
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 3

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