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TÍTULO: 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
INDEXADO EM: Scopus WOS
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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
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TÍTULO: 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
INDEXADO EM: Scopus WOS
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TÍTULO: 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
INDEXADO EM: WOS
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TÍTULO: Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials
AUTORES: Leonard H van den Berg; Eric Sorenson; Gary Gronseth; Eric A Macklin; Jinsy Andrews; Robert H Baloh; Michael Benatar; James D Berry; Adriano Chio; Philippe Corcia; Angela Genge; Amelie K Gubitz; Catherine Lomen Hoerth; Christopher J McDermott; Erik P Pioro; Jeffrey Rosenfeld; Vincenzo Silani; Martin R Turner; Markus Weber; Benjamin Rix Brooks; Robert G Miller; Hiroshi Mitsumoto; ...Mais
PUBLICAÇÃO: 2019, FONTE: NEUROLOGY, VOLUME: 92, NÚMERO: 14
INDEXADO EM: WOS
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TÍTULO: A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2014, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force. EFNS Task Force on Management of ALS  Full Text
AUTORES: Peter M Andersen; Sharon Abrahams; Gian D Borasio; Mamede de Carvalho ; Adriano Chio; Philip Van Damme; Orla Hardiman; Katja Kollewe; Karen E Morrison; Susanne Petri; Pierre Francois Pradat; Vincenzo Silani; Barbara Tomik; Maria Wasner; Markus Weber;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 19, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef
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