Article
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Human mutation - 1 Mar 2017
van der Zee Julie, Gijselinck Ilse, Van Mossevelde Sara, Perrone Federica, Dillen Lubina, Heeman Bavo, Bäumer Veerle, Engelborghs Sebastiaan, De Bleecker Jan, Baets Jonathan, Gelpi Ellen, Rojas-García Ricardo, Clarimón Jordi, Lleó Alberto, Diehl-Schmid Janine, Alexopoulos Panagiotis, Perneczky Robert, Synofzik Matthis, Just Jennifer, Schöls Ludger, Graff Caroline, Thonberg Håkan, Borroni Barbara, Padovani Alessandro, Jordanova Albena, Sarafov Stayko, Tournev Ivailo, de Mendonça Alexandre, Miltenberger-Miltényi Gabriel, Simões do Couto Frederico, Ramirez Alfredo, Jessen Frank, Heneka Michael T, Gómez-Tortosa Estrella, Danek Adrian, Cras Patrick, Vandenberghe Rik, De Jonghe Peter, De Deyn Peter P, Sleegers Kristel, Cruts Marc, Van Broeckhoven Christine, Goeman Johan, Nuytten Dirk, Smets Katrien, Robberecht Wim, Damme Philip Van, Bleecker Jan De, Santens Patrick, Dermaut Bart, Versijpt Jan, Michotte Alex, Ivanoiu Adrian, Deryck Olivier, Bergmans Bruno, Delbeck Jean, Bruyland Marc, Willems Christiana, Salmon Eric, Pastor Pau, Ortega-Cubero Sara, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Hernández Isabel, Boada Mercè, Ruiz Agustín, Sorbi Sandro, Nacmias Benedetta, Bagnoli Silvia, Sorbi Sandro, Sanchez-Valle Raquel, Llado Albert, Santana Isabel, Rosário Almeida Maria, Frisoni Giovanni B, Maetzler Walter, Matej Radoslav, Fraidakis Matthew J, Kovacs Gabor G, Fabrizi Gian Maria, Testi Silvia
Abstract excerpt
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring...
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