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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: 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: Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model  Full Text
AUTHORS: Henk Jan Westeneng; Thomas P A Debray; Anne E Visser; Ruben P A van Eijk; James P K Rooney; Andrea Calvo; Sarah Martin; Christopher J McDermott; Alexander G Thompson; Susana Pinto ; Xenia Kobeleva; Angela Rosebohm; Beatrice Stubendorff; Helma Sommer; Bas M Middelkoop; Annelot M Dekker; Joke J F A van Vugt; Wouter van Rheenen; Alice Vajda; Mark Heverin; Mbombe Kazoka; Hannah Hollinger; Marta Gromicho; Sonja Koerner; Thomas M Ringer; Annekathrin Rodiger; Anne Gunkel; Christopher E Shaw; Annelien L Bredenoord; Michael A van Es; Philippe Corcia; Philippe Couratier; Markus Weber; Julian Grosskreutz; Albert C Ludolph; Susanne Petri; Mamede de Carvalho; Philip Van Damme; Kevin Talbot; Martin R Turner; Pamela J Shaw; Ammar Al Chalabi; Adriano Chio; Orla Hardiman; Karel M Moons; Jan H Veldink; Leonard H van den Berg; ...More
PUBLISHED: 2018, SOURCE: LANCET NEUROLOGY, VOLUME: 17, ISSUE: 5
INDEXED IN: Scopus 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