UAB Digital Repository of Documents 2 records found  Search took 0.01 seconds. 
1.
3 p, 377.7 KB No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients / Baradaran-Heravi, Yalda (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Nguyen, Hung Phuoc (University of Antwerp) ; Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ; Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology) ; De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA)) ; De Deyn, Peter Paul (Hospital Network Antwerp (ZNA)) ; Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; Van Damme, Philip (VIB) ; Cras, Patrick (Antwerp University Hospital (UZA)) ; Salmon, Eric (University of Liege and Memory Clinic) ; Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE)) ; Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE)) ; Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE)) ; Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE)) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona) ; Matej, Radoslav (Charles University) ; Parobkova, Eva (Charles University) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (IRCCS Don Gnocchi) ; Bagnoli, Silvia (University of Florence) ; de Mendonça, Alexandre (University of Lisbon) ; Ferreira, Catarina B. (University of Lisbon) ; Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Almeida, Maria (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Van Broeckhoven, Christine (University of Antwerp) ; Van der Zee, Julie (University of Antwerp) ; Goeman, Johan (BELNEU Consortium) ; Nuytten, Dirk (BELNEU Consortium) ; Sieben, Anne (BELNEU Consortium) ; De Bleecker, Jan L. (BELNEU Consortium) ; Santens, Patrick (BELNEU Consortium) ; Versijpt, Jan (BELNEU Consortium) ; Michotte, Alex (BELNEU Consortium) ; Ivanoiu, Adrian (BELNEU Consortium) ; Deryck, Olivier (BELNEU Consortium) ; Bergmans, Bruno (BELNEU Consortium) ; Willems, Christiana (BELNEU Consortium) ; De Klippel, Nina (BELNEU Consortium) ; Peeters, Dirk (BELNEU Consortium) ; Archettim, Silvana (EU EOD Consortium) ; Bonomi, Elisa (EU EOD Consortium) ; Piaceri, Irene (EU EOD Consortium) ; Ferrari, Camilla (EU EOD Consortium) ; Simões do Couto, Federico (EU EOD Consortium) ; Verdelho, Ana (EU EOD Consortium) ; Miltenberger-Miltényi, Gabriel (EU EOD Consortium) ; Universitat Autònoma de Barcelona
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. [...]
2018 - 10.1016/j.neurobiolaging.2018.05.005
Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11  
2.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / 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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