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1.
12 p, 1.2 MB Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis / Gao, Yixin (Xuzhou Medical University) ; Wang, Ting (Xuzhou Medical University) ; Yu, Xinghao (Xuzhou Medical University) ; Ferrari, Raffaele (Russell Square House) ; Hernandez, Dena G. (Queen Square) ; Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, Jonathan D. (Queen Square) ; Ramasamy, Adaikalavan (University of Oxford) ; Kwok, John B.J. (University of New South Wales) ; Dobson-Stone, Carol (University of New South Wales) ; Brooks, William S. (University of New South Wales) ; Schofield, Peter R. (Neuroscience Research Australia) ; Halliday, Glenda M. (Neuroscience Research Australia) ; Hodges, John R. (Neuroscience Research Australia) ; Piguet, Olivier (Neuroscience Research Australia) ; Bartley, Lauren (Neuroscience Research Australia) ; Thompson, Elizabeth (University of Adelaide) ; Haan, Eric (University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ; Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ; Boada, Mercè (Institut Català de Neurociéncies Aplicades) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Cruchaga, Carlos (Washington University School of Medicine) ; Cairns, Nigel J. (Washington University) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ; Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ; Scarpini, Elio (University of Milan) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Waldö, Maria Landqvist (Lund University) ; Nilsson, Karin (Lund University) ; Nilsson, Christer (Lund University) ; Mackenzie, Ian R.A. (University of British Columbia) ; Hsiung, Ging-Yuek R. (University of British Columbia) ; Mann, David M. A. (Salford Royal Hospital) ; Grafman, Jordan (Northwestern University) ; Morris, Christopher M. (Newcastle University) ; Attems, Johannes (Newcastle University) ; Griffiths, Timothy D. (Newcastle University Medical School) ; McKeith, Ian G. (Newcastle University) ; Thomas, Alan J. (Newcastle University) ; Pietrini, Pietro (IMT School for Advanced Studies) ; Huey, Edward D. (Columbia University) ; Wassermann, Eric M. (National Insititutes of Health) ; Baborie, Atik (University of Alberta Edmonton) ; Jaros, Evelyn (Newcastle University) ; Tierney, Michael C. (National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, Cristina (Universidad de Navarra) ; Ortega-Cubero, Sara (Universidad de Navarra) ; Alonso, Elena (Universidad de Navarra) ; Perneczky, Robert (West London Mental Health Trust) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Kurz, Alexander (Technische Universität München) ; Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ; Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ; Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (University of Toronto) ; St George Hyslop, Peter (University of Cambridge) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, Johannes C. M. (University of California San Diego) ; Uphill, James (University College London. Institute of Neurology) ; Collinge, John (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Neurology) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ; Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ; Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ; van der Zee, Julie (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225) ; Hannequin, Didier (Rouen University Hospital (França)) ; Golfier, Véronique (CH Saint Brieuc) ; Vercelletto, Martine (CHU Nantes) ; Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ; Bagnoli, Silvia (University of Florence) ; Piaceri, Irene (University of Florence) ; Nielsen, Jørgen E. (Copenhagen University Hospital) ; Hjermind, Lena E. (University of Copenhagen) ; Riemenschneider, Matthias (Saarland University) ; Mayhaus, Manuel (Saarland University) ; Ibach, Bernd (University Regensburg) ; Gasparoni, Gilles (Saarland University) ; Pichler, Sabrina (Saarland University) ; Gu, Wei (University of Luxembourg) ; Rossor, Martin N. (Queen Square) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Warren, Jason D. (Queen Square) ; Spillantini, Maria Grazia (University of Cambridge) ; Morris, Huw R. (Russell Square House) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ; Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ; Snowden, Julie S. (University of Manchester) ; Rollinson, Sara (University of Manchester) ; Richardson, Anna (University of Manchester) ; Gerhard, Alexander (The University of Manchester) ; Bruni, Amalia C. (ASPCZ) ; Maletta, Raffaele (ASPCZ) ; Frangipane, Francesca (ASPCZ) ; Cupidi, Chiara (ASPCZ) ; Bernardi, Livia (ASPCZ) ; Anfossi, Maria (ASPCZ) ; Gallo, Maura (ASPCZ) ; Conidi, Maria Elena (ASPCZ) ; Smirne, Nicoletta (ASPCZ) ; Rademakers, Rosa (Mayo Clinic Jacksonville) ; Baker, Matt (Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Mayo Clinic Jacksonville) ; Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ; Petersen, Ronald C. (Mayo Clinic Rochester) ; Knopman, David (Mayo Clinic Rochester) ; Josephs, Keith A. (Mayo Clinic Rochester) ; Boeve, Bradley (Mayo Clinic Rochester) ; Parisi, Joseph E. (Mayo Clinic Rochester) ; Seeley, William W. (University of California) ; Miller, Bruce L. (University of California) ; Karydas, Anna M. (University of California) ; Rosen, Howard (University of California) ; van Swieten, John C. (VU University Medical Centre) ; Dopper, Elise G. P. (Erasmus Medical Centre) ; Seelaar, Harro (Erasmus Medical Centre) ; Pijnenburg, Yolande A. L. (VU University Medical Centre) ; Scheltens, Philip (VU University Medical Centre) ; Logroscino, Giancarlo (University of Bari) ; Capozzo, Rosa (University of Bari) ; Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ; Puca, Annibale A. (University of Salerno) ; Franceschi, Massimo (IRCCS Multimedica) ; Postiglione, Alfredo (University of Naples Federico II) ; Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Kristiansen, Mark (Institute of Child Health (ICH)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Pasquier, Florence (Univ Lille) ; Rollin, Adeline (Univ Lille) ; Deramecourt, Vincent (Univ Lille) ; Lebouvier, Thibaud (Univ Lille) ; Kapogiannis, Dimitrios (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)) ; Hardy, John (Russell Square House) ; Momeni, Parastoo (Texas Tech University Health Science Center) ; Zhao, Huashuo (Xuzhou Medical University) ; Zeng, Ping (Xuzhou Medical University) ; Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184  
2.
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, 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, A. (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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