UAB Digital Repository of Documents 2 records found  Search took 0.00 seconds. 
1.
6 p, 820.8 KB Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease / 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  
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 (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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2 Jessen, Frank
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