Resultats globals: 4 registres trobats en 0.05 segons.
Articles, 4 registres trobats
Articles 4 registres trobats  
1.
10 p, 1.3 MB Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia / Bonham, L. W. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Steele, N. Z. R. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Karch, C. M. (Department of Psychiatry. Washington University) ; Broce, I. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Geier, E. G. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Wen, N. L. (Department of Psychiatry. Washington University) ; Momeni, P. (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Miller, Z. A. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Gorno-Tempini, M. L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hess, C. P. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Lewis, P. (School of Pharmacy. University of Reading. Whiteknights) ; Miller, B. L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Seeley, W. W. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Manzoni, C. (School of Pharmacy. University of Reading. Whiteknights) ; Desikan, Rahul S. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Baranzini, S. E. (Department of Neurology. University of California. San Francisco) ; Ferrari, R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Yokoyama, J. S. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hernandez, D. G. (UCL Institute of Neurology (Regne Unit)) ; Nalls, M. A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Ramasamy, A. (The Jenner Institute. University of Oxford) ; Kwok, J. B. J. (School of Medical Sciences. University of New South Wales) ; Dobson-Stone, C. (School of Medical Sciences. University of New South Wales) ; Schofield, P. R. (School of Medical Sciences. University of New South Wales) ; Halliday, G. M. (School of Medical Sciences. University of New South Wales) ; Hodges, J. R. (School of Medical Sciences. University of New South Wales) ; Piguet, O. (School of Medical Sciences. University of New South Wales) ; Bartley, L. (School of Medical Sciences. University of New South Wales) ; Thompson, E. (Department of Paediatrics. University of Adelaide) ; Haan, E. (Department of Paediatrics. University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Ruiz, A. (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Borroni, Barbara (Neurology Clinic. University of Brescia) ; Padovani, A. (Neurology Clinic. University of Brescia) ; Cruchaga, Carlos (Hope Center. Washington University School of Medicine) ; Cairns, N. J. (Department of Pathology and Immunology. Washington University) ; Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, G. (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Galimberti, D. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blesa, Rafael (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ; Mackenzie, I. R. A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ; Hsiung, G. Y. R. (Division of Neurology. University of British Columbia) ; Mann, D. M. A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ; Morris, C. M. (Institute of Neuroscience. Newcastle University Medical School) ; Attems, J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Griffiths, T. D. (Institute of Neuroscience. Newcastle University Medical School) ; McKeith, I. G. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Thomas, A. J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Pietrini, P. (IMT School for Advanced Studies. Lucca) ; Huey, Edward D (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ; Wassermann, E. M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ; Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Tierney, M. C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Alonso, E. (Clínica Universidad de Navarra) ; Perneczky, Robert (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Diehl-Schmid, J. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Alexopoulos, P. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Rainero, I. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (Tanz Centre for Research in Neurodegenerative Diseases. University of Toronto) ; St George-Hyslop, P. (Cambridge Institute for Medical Research. and the Department of Clinical Neurosciences. University of Cambridge) ; Rossi, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, J. B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, J. C. M. (University of California San Diego. Department of Cellular & Molecular Medicine) ; Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Collinge, John (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Danek, Adrian (Ludwig-Maximilians-Universität München) ; Van Deerlin, V. M. (Department of Pathology and Laboratory Medicine. University of Pennsylvania Perelman School of Medicine) ; Grossman, M. (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ; Trojanowski, J. Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; van der Zee, J. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cruts, Marc (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cappa, S. F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225. F-75013) ; Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ; Golfier, V. (Service de Neurologie. CH Saint Brieuc) ; Vercelletto, M. (Service de neurologie. CHU de Nantes) ; Brice, Alexis (CNRS UMR 7225. F-75013) ; Nacmias, B. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Sorbi, Sandro (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Bagnoli, Silvia (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Piaceri, I. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Nielsen, J. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Hjermind, L. E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ; Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ; Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ; Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ; Pichler, S. (Laboratory for Neurogenetics. Saarland University) ; Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ; Rossor, M. N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Fox, N. C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Warren, J. D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Spillantini, M. G. (Department of Clinical Neurosciences. John Van Geest Brain Repair Centre. Forvie Site. University of Cambridge) ; Morris, H. R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Heutink, Peter (Tübingen Site. German Center for Neurodegenerative Diseases) ; Snowden, J. S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Rollinson, Sara (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ; Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Bruni, A. C. (Regional Neurogenetic Centre. ASPCZ) ; Maletta, R. (Regional Neurogenetic Centre. ASPCZ) ; Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ; Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ; Bernardi, L. (Regional Neurogenetic Centre. ASPCZ) ; Anfossi, M. (Regional Neurogenetic Centre. ASPCZ) ; Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ; Conidi, Maria E. (Regional Neurogenetic Centre. ASPCZ) ; Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ; Rademakers, Rosa (Department of Neuroscience. Mayo Clinic Jacksonville) ; Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Graff-Radford, N. R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Petersen, R. C. (Department of Neurology. Mayo Clinic Rochester) ; Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ; Josephs, K. A. (Department of Neurology. Mayo Clinic Rochester) ; Boeve, Bradley F (Department of Neurology. Mayo Clinic Rochester) ; Parisi, J. E. (Department of Pathology. Mayo Clinic Rochester) ; Karydas, A. M. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Rosen, H. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; van Swieten, J. C. (Department of Medical Genetics. VU university Medical Centre) ; Dopper, E. G. P. (Department of Medical Genetics. VU university Medical Centre) ; Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ; Pijnenburg, Y. A. L. (VU University Medical Centre. Department of Neurology) ; Scheltens, Philip (VU University Medical Centre. Department of Neurology) ; Logroscino, Giancarlo (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Capozzo, R. (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ; Puca, A. A. (Department of Medicine and Surgery. University of Salerno) ; Franceschi, M. (Neurology Department. IRCCS Multimedica) ; Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ; Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ; Chiang, H. H. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Graff, C. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Pasquier, F. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Deramecourt, Vincent (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Lebouvier, T. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ; Ferrucci, L. (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 10854  
2.
21 p, 965.2 KB CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline / Suárez-Calvet, Marc (Ludwig-Maximilians-Universität München) ; Capell, Anja (Ludwig-Maximilians-Universität München) ; Araque Caballero, Miguel Ángel (Ludwig-Maximilians-Universität München) ; Morenas-Rodríguez, Estrella (Universitat Autònoma de Barcelona) ; Fellerer, Katrin (Ludwig-Maximilians-Universität München) ; Franzmeier, Nicolai (Ludwig-Maximilians-Universität München) ; Kleinberger, Gernot (Munich Cluster for Systems Neurology (SyNergy)) ; Eren, Erden (Dokuz Eylul University, Turkey) ; Deming, Yuetiva (Washington University School of Medicine) ; Piccio, Laura (Washington University School of Medicine) ; Karch, Celeste M. (Washington University School of Medicine) ; Cruchaga, Carlos (Washington University School of Medicine) ; Paumier, Katrina (Washington University School of Medicine) ; Bateman, Randall J. (Washington University School of Medicine) ; Fagan, Anne M. (Washington University School of Medicine) ; Morris, John C. (Washington University School of Medicine) ; Levin, Johannes (Ludwig-Maximilians-Universität München) ; Danek, Adrian (Ludwig-Maximilians-Universität München) ; Jucker, Mathias (University of Tübingen) ; Masters, Colin L. (University of Melbourne) ; Rossor, Martin N. (UCL Institute of Neurology (Regne Unit)) ; Ringman, John M. (University of Southern California) ; Shaw, Leslie M. (University of Pennsylvania) ; Trojanowski, John Q. (University of Pennsylvania) ; Weiner, Michael (University of California at San Francisco) ; Ewers, Michael (Ludwig-Maximilians-Universität München) ; Haass, Christian (Munich Cluster for Systems Neurology (SyNergy))
Progranulin (PGRN) is predominantly expressed by microglia in the brain, and genetic and experimental evidence suggests a critical role in Alzheimer's disease (AD). We asked whether expression is changed in a disease severity-specific manner in . [...]
2018 - 10.15252/emmm.201809712
EMBO Molecular Medicine, Vol. 10 (november 2018)  
3.
11 p, 1.2 MB Alzheimer's disease in Down syndrome : An overlooked population for prevention trials / Strydom, André (South London and Maudsley NHS Foundation Trust) ; Coppus, Antonia (Department of Primary and Community Care, Radboud University Medical Center, Nijmegen) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Danek, Adrian (Ludwig-Maximilians-Universität München) ; Fortea, Juan (Fundació Catalana Síndrome de Down) ; Hardy, John (Reta Lila Weston Institute, Institute of Neurology, University College London) ; Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) site Munich) ; Nuebling, Georg (Ludwig-Maximilians-Universität München) ; Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ; Ritchie, Craig (Centre for Clinical Brain Sciences. University of Edinburgh) ; van Duijn, Cornelia (Department of Epidemiology, Erasmus Medical Centre, Rotterdam) ; Zaman, Shahid (Cambridge University Hospitals NHS Foundation Trust (Regne Unit)) ; Zetterberg, Henrik (Sahlgrenska University Hospital (Suècia)) ; Universitat Autònoma de Barcelona
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. [...]
2018 - 10.1016/j.trci.2018.10.006
Alzheimer's & Dementia : Translational Research & Clinical Interventions, Vol. 4 (december 2018) , p. 703-713  
4.
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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