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Articles, 2 registres trobats
Articles 2 registres trobats  
1.
15 p, 570.6 KB C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts / Costa, Beatrice ; Manzoni, Claudia ; Bernal-Quiros, Manuel ; Kia, Demis A. ; ; Alvarez, Ignacio ; Alvarez, Victoria ; Andreassen, Ole ; Anfossi, Maria ; Bagnoli, Silvia ; Benussi, Luisa ; Bernardi, Livia ; Binetti, Giuliano ; Blackburn, Daniel ; Boada, Mercè ; Borroni, Barbara ; Bowns, Lucy ; Bråthen, Geir ; Bruni, Amalia C. ; Chiang, Huei-Hsin ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Colville, Shuna ; Conidi, Maria E. ; Cope, Tom E. ; Cruchaga, Carlos ; Cupidi, Chiara ; Di Battista, Maria Elena ; Diehl-Schmid, Janine ; Diez-Fairen, Monica ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Durante, Elisabetta ; Flisar, Dušan ; Frangipane, Francesca ; Galimberti, Daniela ; Gallo, Maura ; Gallucci, Maurizio ; Ghidoni, Roberta ; Graff, Caroline ; Grafman, Jordan H. ; Grossman, Murray ; Hardy, John ; Hernández, Isabel ; Holloway, Guy J.T. ; Huey, Edward D. ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Karydas, Anna ; Khoshnood, Behzad ; Kramberger, Milica G. ; Kristiansen, Mark ; Lewis, Patrick A. ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Madhan, Gaganjit K. ; Maletta, Raffaele ; Maver, Aleš ; Menendez-Gonzalez, Manuel ; Milan, Graziella ; Miller, Bruce ; Mol, Merel O. ; Momeni, Parastoo ; Moreno-Grau, Sonia ; Morris, Chris M. ; Nacmias, Benedetta ; Nilsson, Christer ; Novelli, Valeria ; Öijerstedt, Linn ; Padovani, Alessandro ; Pal, Suvankar ; Panchbhaya, Yasmin ; Pastor, Pau ; Peterlin, Borut ; Piaceri, Irene ; Pickering-Brown, Stuart ; Pijnenburg, Yolande A.L. ; Puca, Annibale A. ; Rainero, Innocenzo ; Rendina, Antonella ; Richardson, Anna M.T. ; Rogaeva, Ekaterina ; Rogelj, Boris ; Rollinson, Sara ; Rossi, Giacomina ; Rossmeier, Carola ; Rowe, James B. ; Rubino, Elisa ; Ruiz, Agustín ; Sanchez-Valle, Raquel ; Sando, Sigrid B. ; Santillo, Alexander F. ; Saxon, Jennifer ; Scarpini, Elio ; Serpente, Maria ; Smirne, Nicoletta ; Sorbi, Sandro ; Suh, EunRan ; Tagliavini, Fabrizio ; Thompson, Jennifer C. ; Trojanowski, John Q. ; Van Deerlin, Vivianna M. ; Van der Zee, Julie ; Van Broeckhoven, Christine ; van Rooij, Jeroen ; Van Swieten, John C. ; Veronesi, Arianna ; Vitale, Emilia ; Waldö, Maria L. ; Woodward, Cathy ; Yokoyama, Jennifer ; Escott-Price, Valentina ; Polke, James M. ; Ferrari, Raffaele ; Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302  
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 (Antwerp University Hospital) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas García, Ricardo (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) ; Thonberg, Håkan (Karolinska University Hospital) ; 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 (Antwerp University Hospital) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Jonghe, Peter (Antwerp University Hospital) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (Hospital Network Antwerp) ; Nuytten, Dirk (Hospital Network Antwerp) ; Smets, Katrien (Antwerp University Hospital) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; 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 (CIBERNED Instituto de Salud Carlos III) ; 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) ; Lladó, 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 (Thomayer Hospital, Prague and Charles University) ; 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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