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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ;
Perrone, Federica (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Bäumer, Veerle (University of Antwerp) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
De Bleecker, Jan (Universitair Ziekenhuis Gent) ;
Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Perneczky, Robert (West London Mental Health Trust) ;
Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Jordanova, Albena (Medical University-Sofia) ;
Sarafov, Stayko (Medical University-Sofia) ;
Tournev, Ivailo (New Bulgarian University) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Simões do Couto, Frederico (University of Lisbon) ;
Ramirez, Alfredo (University of Cologne) ;
Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ;
Heneka, Michael T. (University of Bonn) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Sleegers, Kristel (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Goeman, Johan (University Hospital Antwerp (Bèlgica)) ;
Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ;
Smets, Katrien (University Hospital Antwerp (Bèlgica)) ;
Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Bleecker, Jan De (Universitair Ziekenhuis Gent) ;
Santens, Patrick (Universitair Ziekenhuis Gent) ;
Dermaut, Bart (Universitair Ziekenhuis Gent) ;
Versijpt, Jan (University Hospital Brussels) ;
Michotte, Alex (University Hospital Brussels) ;
Ivanoiu, Adrian (Saint-Luc University Hospital) ;
Deryck, Olivier (General Hospital Sint-Jan Brugge) ;
Bergmans, Bruno (General Hospital Sint-Jan Brugge) ;
Delbeck, Jean (General Hospital Sint-Maria) ;
Bruyland, Marc (General Hospital Glorieux Ronse) ;
Willems, Christiana (Jessa Hospital) ;
Salmon, Eric (University of Liège and Memory Clinic) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Boada, Mercè (Institut Català de Neurociènces Aplicades) ;
Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ;
Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ;
Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Santana, Isabel (University of Coimbra) ;
Rosário Almeida, Maria (University of Coimbra) ;
Frisoni, Giovanni B.. (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ;
Maetzler, Walter (Hertie Institute for Clinical Brain Research) ;
Matej, Radoslav (Charles University. Faculty of Medicine in Hradec Králové) ;
Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Kovacs, Gabor G. (Medical University of Vienna) ;
Fabrizi, Gian Maria (University of Verona) ;
Testi, Silvia (University of Verona) ;
Universitat Autònoma de Barcelona
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. [...]
2017 -  10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309
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