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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: Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
AUTORES: Teresa Lee; Yun R Li; Caroline Ingre; Markus Weber; Torsten Grehl; Ole Gredal; Mamede de Carvalho ; Thomas Meyer; Ole Bjorn Tysnes; Georg Auburger; Suzana Gispert; Nancy M Bonini; Peter M Andersen; Aaron D Gitler;
PUBLICAÇÃO: 2011, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 20, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef