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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: 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

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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: Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients Full Text
AUTORES: Eliana Marisa Ramos; Pamela Keagle; Tammy Gillis; Patrick Lowe; Jayalakshmi S Mysore; Ashley Lyn Leclerc; Antonia Ratti; Nicola Ticozzi; Cinzia Gellera; James F Gusella; Vincenzo Silani; Isabel Alonso ; Robert H Brown; Marcy E Macdonald; John E Landers;
PUBLICAÇÃO: 2012, FONTE: AMYOTROPHIC LATERAL SCLEROSIS, VOLUME: 13, NÚMERO: 3

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