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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
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Bonham, Luke W. (University of California, San Francisco (UCSF)) ;
Steele, Natasha Z. R. (University of California, San Francisco (UCSF)) ;
Karch, Celeste M. (Department of Psychiatry. Washington University) ;
Broce, Iris (University of California, San Francisco (UCSF)) ;
Geier, Ethan G. (University of California, San Francisco (UCSF)) ;
Wen, Natalie L. (Department of Psychiatry. Washington University) ;
Momeni, Parastoo (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ;
Hardy, John (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Miller, Zachary A. (University of California, San Francisco (UCSF)) ;
Gorno-Tempini, Maria Luisa (University of California, San Francisco (UCSF)) ;
Hess, Christopher P. (University of California, San Francisco (UCSF)) ;
Lewis, Patrick (School of Pharmacy. University of Reading. Whiteknights) ;
Miller, Bruce L. (University of California, San Francisco (UCSF)) ;
Seeley, William W. (University of California, San Francisco (UCSF)) ;
Manzoni, Claudia (School of Pharmacy. University of Reading. Whiteknights) ;
Desikan, Rahul S. (University of California, San Francisco (UCSF)) ;
Baranzini, Sergio E. (University of California, San Francisco (UCSF)) ;
Ferrari, Raffaele (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Yokoyama, Jennifer S. (University of California, San Francisco (UCSF)) ;
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, Adaikalavan (The Jenner Institute. University of Oxford) ;
Kwok, J. B. J. (School of Medical Sciences. University of New South Wales) ;
Dobson-Stone, Carol (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, Lauren (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, Alessandro (Neurology Clinic. University of Brescia) ;
Cruchaga, Carlos (Hope Center. Washington University School of Medicine) ;
Cairns, Nigel J (Department of Pathology and Immunology. Washington University) ;
Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (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, Daniela (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. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Attems, Johannes (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Griffiths, T. D. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
McKeith, I. G. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
Thomas, A. J. (Newcastle University. Institute of Neuroscience and Institute for Ageing) ;
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, Janine (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Alexopoulos, Panagiotis (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ;
Rainero, Innocenzo (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 (University of Toronto. Tanz Centre for Research in Neurodegenerative Diseases) ;
St George Hyslop, Peter (Cambridge Institute for Medical Research) ;
Rossi, G. (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (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. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (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, Julie (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, Benedetta (University of Florence. Department of Neurosciences) ;
Sorbi, Sandro (University of Florence. Department of Neurosciences) ;
Bagnoli, Silvia (University of Florence. Department of Neurosciences) ;
Piaceri, I. (University of Florence. Department of Neurosciences) ;
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. (University of Cambridge. Department of Clinical Neurosciences) ;
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, Alexander (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ;
Bruni, A. C. (Regional Neurogenetic Centre. ASPCZ) ;
Maletta, Raffaele (Regional Neurogenetic Centre. ASPCZ) ;
Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ;
Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ;
Bernardi, Livia (Regional Neurogenetic Centre. ASPCZ) ;
Anfossi, Maria (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 (Department of Neurology. Mayo Clinic Rochester) ;
Parisi, J. E. (Department of Pathology. Mayo Clinic Rochester) ;
Karydas, A. M. (University of California, San Francisco (UCSF)) ;
Rosen, H. (University of California, San Francisco (UCSF)) ;
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, Rosa (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, Florence (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, Thibaud (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ;
Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
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, Vol. 9 Núm. 1 (january 2019) , p. 10854
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