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TITLE: Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 17
INDEXED IN: Scopus WOS
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TITLE: Genetic variability in sporadic amyotrophic lateral sclerosis  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 9
INDEXED IN: Scopus WOS
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TITLE: Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis  Full Text
AUTHORS: 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.; ...More
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 122
INDEXED IN: Scopus WOS
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TITLE: Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 16
INDEXED IN: Scopus WOS
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TITLE: Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 74
INDEXED IN: WOS
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TITLE: A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
AUTHORS: Chizuru Akimoto; Alexander E Volk; Marka van Blitterswijk; Marleen Van den Broeck; Claire S Leblond; Serge Lumbroso; William Camu; Birgit Neitzel; Osamu Onodera; Wouter van Rheenen; Susana Pinto ; Markus Weber; Bradley Smith; Melanie Proven; Kevin Talbot; Pamela Keagle; Alessandra Chesi; Antonia Ratti; Julie van der Zee; Helena Alstermark; Anna Birve; Daniela Calini; Angelica Nordin; Daniela C Tradowsky; Walter Just; Hussein Daoud; Sabrina Angerbauer; Mariely DeJesus Hernandez; Takuya Konno; Anjali Lloyd Jani; Mamede de Carvalho; Kevin Mouzat; John E Landers; Jan H Veldink; Vincenzo Silani; Aaron D Gitler; Christopher E Shaw; Guy A Rouleau; Leonard H van den Berg; Christine Van Broeckhoven; Rosa Rademakers; Peter M Andersen; Christian Kubisch; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Controversies and priorities in amyotrophic lateral sclerosis  Full Text
AUTHORS: Martin R Turner; Orla Hardiman; Michael Benatar; Benjamin R Brooks; Adriano Chio; Mamede de Carvalho ; Paul G Ince; Cindy Lin; Robert G Miller; Hiroshi Mitsumoto; Garth Nicholson; John Ravits; Pamela J Shaw; Michael Swash ; Kevin Talbot; Bryan J Traynor; Leonard H Van den Berg; Jan H Veldink; Steve Vucic; Matthew C Kiernan;
PUBLISHED: 2013, SOURCE: LANCET NEUROLOGY, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef