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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
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Dalmasso, M.C. (Laboratory of Amyloidosis and Neurodegeneration. Fundación Instituto Leloir-IIBBA-CONICET. Ciudad Autónoma de Buenos Aires (C.A.B.A.)) ;
Brusco, L.I. (Hospital Interzonal General de Agudos Eva Perón) ;
Olivar, N. (Departamento Ciencias Fisiológicas UAII. Facultad de Medicina. UBA. C.A.B.A) ;
Muchnik, C. (Laboratorio de Bioquímica Molecular. Facultad de Medicina. Instituto de Investigaciones Médicas A. Lanari. UBA. C.A.B.A) ;
Hanses, C. (Department of Psychiatry and Psychotherapy. University of Bonn) ;
Milz, E. (Division of Neurogenetics and Molecular Psychiatry. Department of Psychiatry and Psychotherapy. University of Cologne) ;
Becker, J. (Department of Psychiatry and Psychotherapy. University of Bonn) ;
Heilmann-Heimbach, S. (Department of Genomics. Life & Brain Center. University of Bonn) ;
Hoffmann, P. (Division of Medical Genetics. University Hospital and Department of Biomedicine. University of Basel) ;
Prestia, F.A. (Laboratory of Amyloidosis and Neurodegeneration. Fundación Instituto Leloir-IIBBA-CONICET. Ciudad Autónoma de Buenos Aires (C.A.B.A.)) ;
Galeano, P. (Laboratory of Amyloidosis and Neurodegeneration. Fundación Instituto Leloir-IIBBA-CONICET. Ciudad Autónoma de Buenos Aires (C.A.B.A.)) ;
Avalos, M.S.S. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ;
Martinez, L.E. (Hospital Interzonal General de Agudos Eva Perón) ;
Carulla, M.E. (Hospital Interzonal General de Agudos Eva Perón) ;
Azurmendi, P.J. (Laboratorio de Bioquímica Molecular. Facultad de Medicina. Instituto de Investigaciones Médicas A. Lanari. UBA. C.A.B.A) ;
Liberczuk, C. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ;
Fezza, C. (Laboratorio de Bioquímica Molecular. Facultad de Medicina. Instituto de Investigaciones Médicas A. Lanari. UBA. C.A.B.A) ;
Sampaño, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ;
Fierens, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ;
Jemar, G. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ;
Solis, P. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ;
Medel, N. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ;
Lisso, J. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ;
Sevillano, Z. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ;
Bosco, P. (Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Associazione Oasi Maria Santissima Srl) ;
Bossù, P. (Department of Clinical and Behavioural Neurology. Experimental Neuropsychobiology Laboratory) ;
Spalletta, G. (Department of Clinical and Behavioural Neurology. Neuropsychiatry Laboratory. IRCCS Santa Lucia Foundation) ;
Galimberti, D. (Neurodegenerative Diseases Center. University of Milan. Centro Dino Ferrari. Fondazione Ca' Granda. IRCCS Ospedale Maggiore Policlinico) ;
Mancuso, M. (Department of Experimental and Clinical Medicine. Neurological Institute. University of Pisa) ;
Nacmias, B. (NEUROFARBA (Department of Neuroscience. Psychology. Drug Research and Child Health). University of Florence) ;
Sorbi, S. (IRCCS 'Don Carlo Gnocchi') ;
Mecocci, P. (Section of Gerontology and Geriatrics. Department of Medicine. University of Perugia) ;
Pilotto, A. (Geriatric Unit and Gerontology-Geriatrics Research Laboratory. Department of Medical Sciences. IRCCS Casa Sollievo della Sofferenza) ;
Caffarra, P. (Alzheimer Center. FERB) ;
Panza, F. (Neurodegenerative Disease Unit. Department of Basic Medicine. Neuroscience. and Sense Organs. University of Bari Aldo Moro) ;
Bullido, M. (Centro de Biología Molecular Severo Ochoa (CSIC-UAM)) ;
Clarimon, J. (Institut d'Investigació Biomèdica Sant Pau) ;
Sánchez-Juan, P. (Neurology Service and CIBERNED. 'Marqués de Valdecilla' University Hospital (University of Cantabria and IDIVAL)) ;
Coto, E. (Molecular Genetics Laboratory-Hospital. University of Central Asturias) ;
Sanchez-Garcia, F. (Immunology Service. Hospital Universitario de Gran Canaria Doctor Negrín) ;
Graff, C. (Division of Neurogeriatrics. Department NVS. Karolinska Institutet) ;
Ingelsson, M. (Department of Public Health/Geriatrics. Uppsala University) ;
Bellenguez, C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ;
Castaño, E.M. (Laboratory of Amyloidosis and Neurodegeneration. Fundación Instituto Leloir-IIBBA-CONICET. Ciudad Autónoma de Buenos Aires (C.A.B.A.)) ;
Kairiyama, C. (Hospital Interzonal General de Agudos Eva Perón) ;
Politis, D.G. (Hospital Interzonal General de Agudos Eva Perón) ;
Kochen, S. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ;
Scaro, H. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ;
Maier, W. (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ;
Jessen, F. (Department of Psychiatry and Psychotherapy. University of Cologne) ;
Mangone, C.A. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ;
Lambert, J.C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ;
Morelli, Laura (Laboratory of Amyloidosis and Neurodegeneration. Fundación Instituto Leloir-IIBBA-CONICET. Ciudad Autónoma de Buenos Aires (C.A.B.A.)) ;
Ramirez, A. (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ;
Universitat Autònoma de Barcelona
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. [...]
2019 -  10.1038/s41398-019-0394-9
Translational psychiatry, Vol. 9 Núm. 1 (january 2019) , p. 55
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13 p, 955.5 KB |
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 (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 (University Hospital Ghent and University of Ghent) ;
Baets, Jonathan (Antwerp University Hospital) ;
Gelpi, Ellen (Neurological Tissue Bank of the Biobanc - Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ;
Rojas García, Ricardo (Universitat Autònoma de Barcelona) ;
Clarimon, 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 (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 (University Hospital Ghent) ;
Santens, Patrick (University Hospital Ghent) ;
Dermaut, Bart (University Hospital Ghent) ;
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 (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències 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 (Hospital Clínic, IDIBAPS) ;
Lladó, Albert (Hospital Clínic, IDIBAPS) ;
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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