Dipòsit Digital de Documents de la UAB 6 registres trobats  La cerca s'ha fet en 0.01 segons. 
1.
12 p, 280.0 KB Alzheimer's disease research progress in the Mediterranean region : The Alzheimer's Association International Conference Satellite Symposium / Sexton, Claire (Alzheimer's Association (Illinois, Estats Units)) ; Solis, Michele (Freelance science writer (Washington, Estats Units)) ; Aharon-Peretz, Judith (Rappapaort School of Medicine (Haifa, Israel)) ; Alexopoulos, Panagiotis (University of Patras (Grècia)) ; Apostolova, Liana G. (Indiana University (Bloomington, Estats Units)) ; Bayen, Eléonore (University of California San Francisco (California, Estats Units)) ; Birkenhager, Betty (University Medical Center Groningen (Groningen, Països Baixos)) ; Cappa, Stefano (IRCCS Mondino Foundation (Pavia, Itàlia)) ; Constantinidou, Fofi (University of Cyprus (Nicosia, Xipre)) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Gerritsen, Debby L. (Radboud Medical Center Nijmegen (Nijmegen, Països Baixos)) ; Hassanin, Hany I. (Ain Shams University (El Caire, Egipte)) ; Ibáñez, Agustín (Universidad de San Andres & National Scientific and Technical Research Council (CONICET) (Buenos Aires, Argentina)) ; Ioannidis, Panagiotis (Aristotle University of Thessaloniki (Thessaloniki, Grècia)) ; Karageorgiou, Elissaios (Neurological Institute of Athens (Atenes, Grècia)) ; Korczyn, Amos (Tel Aviv University (Tel Aviv, Israel)) ; Leroi, Iracema (Trinity College Dublin (Dublín, Irlanda)) ; Lichtwarck, Bjorn (Innlandet Hospital Trust (Ottestad, Noruega)) ; Logroscino, Giancarlo (University Aldo Moro Bari (Bari, Itàlia)) ; Lynch, Chris (Alzheimer's Disease International (Londres, Regne Unit))) ; Mecocci, Patrizia (University of Perugia (Perugia, Itàlia)) ; Molinuevo, José Luis (Barcelonaβeta Brain Research Center (BBRC)) ; Papatriantafyllou, John (Ana Aslan International Foundation) ; Papegeorgiou, Sokratis (National and Kapodistrian University of Athens (Atenes, Grècia)) ; Politis, Antonis (National and Kapodistrian University of Athens (Atenes, Grècia)) ; Raman, Rema (University of Southern California (California, Estats Units)) ; Ritchie, Karen (Institut National de la Santé et de la Recherche Médicale (França)) ; Sanchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Sano, Mary (The Mount Sinai Hospital (New York, Estats Units)) ; Scarmeas, Nikolas (Columbia University (New York, Estats Units)) ; Spiru, Luiza (Ana Aslan International Foundation) ; Stathi, Afroditi (University of Birmingham (Regne Unit)) ; Tsolaki, Magda (Aristotle University of Thessaloniki (Macedonia, Grècia)) ; Yener, Gorsev (Izmir University of Economics (Izmir, Turquia)) ; Zaganas, Ioannis (University of Crete (Creta, Grècia)) ; Zygouris, Stelios (Centre for Research and Technology Hellas/ Information Technologies Institute (Thessaloniki, Grècia)) ; Carrillo, Maria (Alzheimer's Association (Illinois, Estats Units)) ; Universitat Autònoma de Barcelona
As research and services in the Mediterranean region continue to increase, so do opportunities for global collaboration. To support such collaborations, the Alzheimer's Association was due to hold its seventh Alzheimer's Association International Conference Satellite Symposium in Athens, Greece in 2021. [...]
2022 - 10.1002/alz.12588
Alzheimer's & Dementia, Vol. 18 Núm. 10 (october 2022) , p. 1957-1968  
2.
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  
3.
16 p, 2.1 MB Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration / Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Nigro, Salvatore (Institute of Nanotechnology. National Research Council) ; Vandevrede, Lawren (Memory and Aging Center. Department of Neurology. University of California) ; Falgàs, Neus (Memory and Aging Center. Department of Neurology. University of California) ; Heuer, Hilary W. (Memory and Aging Center. Department of Neurology. University of California) ; Painous, Cèlia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Compta, Yaroslau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Martí, Maria J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Logroscino, Giancarlo (Department of Basic Medicine. Neuroscience. and Sense Organs. University of Bari Aldo Moro) ; Quattrone, Andrea (Neuroimaging Research Unit. Institute of Molecular Bioimaging and Physiology. National Research Council) ; Perry, David C. (Memory and Aging Center. Department of Neurology. University of California) ; Gorno-Tempini, Maria Luisa (Memory and Aging Center. Department of Neurology. University of California) ; Rosen, Howard J. (Memory and Aging Center. Department of Neurology. University of California) ; Grinberg, Lea T. (Memory and Aging Center. Department of Neurology. University of California) ; Spina, Salvatore (Memory and Aging Center. Department of Neurology. University of California) ; La Joie, Renaud (Memory and Aging Center. Department of Neurology. University of California) ; Rabinovici, Gil D. (Memory and Aging Center. Department of Neurology. University of California) ; Miller, Bruce L. (University of California, San Francisco (UCSF)) ; Rojas, Julio C. (Memory and Aging Center. Department of Neurology. University of California) ; Seeley, William W. (Memory and Aging Center. Department of Neurology. University of California) ; Boxer, Adam (Memory and Aging Center. Department of Neurology. University of California) ; Universitat Autònoma de Barcelona
Importance: The accurate diagnosis of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) is hampered by imperfect clinical-pathological correlations. Objective: To assess and compare the diagnostic value of the magnetic resonance parkinsonism index (MRPI) and other magnetic resonance imaging-based measures of cerebral atrophy to differentiate between PSP, CBD, and other neurodegenerative diseases. [...]
2022 - 10.1001/jamanetworkopen.2022.9588
JAMA network open, Vol. 5 Núm. 4 (january 2022) , p. E229588  
4.
1 p, 709.1 KB Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology / van Rheenen, Wouter (Utrecht University) ; van der Spek, Rick A. A. (Utrecht University) ; Bakker, Mark K. (Utrecht University) ; van Vugt, Joke J. F. A. (Utrecht University) ; Hop, Paul J. (Utrecht University) ; Zwamborn, Ramona A. J. (Utrecht University) ; de Klein, Niek (University Medical Centre Groningen) ; Westra, Harm-Jan (University Medical Centre Groningen) ; Bakker, Olivier B. (University Medical Centre Groningen) ; Deelen, Patrick (Utrecht University) ; Shireby, Gemma (University of Exeter) ; Hannon, Eilis (University of Exeter) ; Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ; Baird, Denis (University of Bristol) ; Restuadi, Restuadi (University of Queensland) ; Dolzhenko, Egor (Illumina) ; Dekker, Annelot M. (Utrecht University) ; Gawor, Klara (Utrecht University) ; Westeneng, Henk-Jan (Utrecht University) ; Tazelaar, Gijs H. P. (Utrecht University) ; van Eijk, Kristel R. (Utrecht University) ; Kooyman, Maarten (Utrecht University) ; Byrne, Ross P. (Trinity College Dublin) ; Doherty, Mark (Trinity College Dublin) ; Heverin, Mark (Trinity College Dublin) ; Al Khleifat, Ahmad (King's College LondonNeuroscience Institute) ; Iacoangeli, Alfredo (King's College London) ; Shatunov, Aleksey (King's College London) ; Ticozzi, Nicola (Università degli Studi di Milano) ; Cooper-Knock, Johnathan (University of Sheffield) ; Smith, Bradley N. (King's College London) ; Gromicho, Marta (Universidade de Lisboa) ; Chandran, Siddharthan (University of Edinburgh. UK Dementia Research Institute) ; Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ; Morrison, Karen E. (Queen's University Belfast) ; Shaw, Pamela J. (University of Sheffield) ; Hardy, John (University College London) ; Orrell, Richard W. (University College London) ; Sendtner, Michael (University Hospital Würzburg) ; Meyer, Thomas (Humboldt University) ; Başak, Nazli (Koç University, School of Medicine, KUTTAM-NDAL) ; van der Kooi, Anneke J. (Academic Medical Center) ; Ratti, Antonia (Università degli Studi di Milano) ; Fogh, Isabella (King's College London) ; Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ; Lauria, Giuseppe (University of Milan) ; Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ; Cereda, Cristina (IRCCS Mondino Foundation) ; Sproviero, Daisy (IRCCS Mondino Foundation) ; D'Alfonso, Sandra (University of Eastern Piedmont) ; Sorarù, Gianni (University of Padova) ; Siciliano, Gabriele (University of Pisa) ; Filosto, Massimiliano (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Brunetti, Maura (University of Torino) ; Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Grassano, Maurizio (University of Torino) ; Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G. Panico' Hospital. Department of Clinical Research in Neurology) ; Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ; Osmanovic, Alma (University Hospital Essen (Alemanya)) ; Nordin, Angelica (Umeå University) ; Lerner, Yossef (Hadassah Medical Center) ; Zabari, Michal (Hadassah Medical Center) ; Gotkine, Marc (Hadassah Medical Center) ; Baloh, Robert H. (Cedars-Sinai Medical Center) ; Bell, Shaughn (Cedars-Sinai Medical Center) ; Vourc'h, Patrick (UMR 1253, Université de Tours) ; Corcia, Philippe (CHU de Tours. Centre de référence sur la SLA) ; Couratier, Philippe (Université de Limoges) ; Millecamps, Stéphanie (Sorbonne Université) ; Meininger, Vincent (Hôpital des Peupliers) ; Salachas, François (Hôpital de la Pitié-Salpêtrière) ; Mora Pardina, Jesus S. (ALS Unit, Hospital San Rafael, Madrid) ; Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Dion, Patrick A. (McGill University) ; Ross, Jay P. (McGill University) ; Ludolph, Albert C. (Ulm University) ; Weishaupt, Jochen H. (Heidelberg University) ; Brenner, David (Heidelberg University) ; Freischmidt, Axel (German Center for Neurodegenerative Diseases) ; Bensimon, Gilbert (CHU-Nîmes) ; Brice, Alexis (Sorbonne Université) ; Durr, Alexandra (Sorbonne Université) ; Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ; Saker-Delye, Safa (Genethon, CNRS UMR) ; Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ; Topp, Simon (King's College London.) ; Rademakers, Rosa (Mayo Clinic College of Medicine) ; Tittmann, Lukas (Christian Albrechts-University Kiel) ; Lieb, Wolfgang (Christian Albrechts-University Kiel) ; Franke, Andre (Kiel University) ; Ripke, Stephan (Charité - Universitätsmedizin Berlin) ; Braun, Alice (Charité - Universitätsmedizin Berlin) ; Kraft, Julia (Charité - Universitätsmedizin Berlin) ; Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ; Hofman, Albert (Erasmus Medical Center Rotterdam. Department of Epidemiology) ; Rietschel, Marcella (Central Institute of Mental Health) ; Cichon, Sven (Institute of Neuroscience and Medicine INM-1) ; Nöthen, Markus M. (Life and Brain Center. Department of Genomics) ; Amouyel, Philippe (University of Lille) ; Traynor, Bryan J. (Johns Hopkins University) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Mitne Neto, Miguel (Universidade de São Paulo) ; Cauchi, Ruben J. (University of Malta) ; Ophoff, Roel A. (University of California) ; Wiedau-Pazos, Martina (University of California) ; Lomen-Hoerth, Catherine (University of California. Department of Neurology) ; Van Deerlin, Vivianna (University of Pennsylvania) ; Grosskreutz, Julian (University of Luebeck) ; Roediger, Annekathrin (Jena University Hospital (Alemanya)) ; Gaur, Nayana (Jena University Hospital (Alemanya)) ; Jörk, Alexander (Jena University Hospital (Alemanya)) ; Barthel, Tabea (Jena University Hospital (Alemanya)) ; Theele, Erik (Jena University Hospital (Alemanya)) ; Ilse, Benjamin (Jena University Hospital (Alemanya)) ; Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ; Witte, Otto W. (Jena University Hospital (Alemanya)) ; Steinbach, Robert (Jena University Hospital (Alemanya)) ; Hübner, Christian A. (Jena University Hospital (Alemanya)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences. Department of Functional Biochemistry of the Nervous System) ; Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Demeshonok, Vera (Medical Clinic of the St. Petersburg) ; Ataulina, Anastasia (Bujanov Moscow Clinical Hospital, Moscow, Russia) ; Rogelj, Boris (University of Ljubljana) ; Koritnik, Blaž (University Medical Centre Ljubljana) ; Zidar, Janez (University Medical Centre Ljubljana) ; Ravnik-Glavač, Metka (University of Ljubljana) ; Glavač, Damjan (University of Ljubljana) ; Stević, Zorica (University of Belgrade) ; Drory, Vivian (Tel Aviv University) ; Povedano, Monica (Hospital Universitari de Bellvitge) ; Blair, Ian P. (Macquarie University) ; Kiernan, Matthew C. (University of Sydney) ; Benyamin, Beben (University of South Australia) ; Henderson, Robert D. (Royal Brisbane and Women's Hospital) ; Furlong, Sarah (Macquarie University) ; Mathers, Susan (Calvary Health Care Bethlehem) ; McCombe, Pamela A. (University of Queensland) ; Needham, Merrilee (Murdoch University) ; Ngo, Shyuan T. (University of Queensland) ; Nicholson, Garth A. (Concord Repatriation General Hospital) ; Pamphlett, Roger (University of Sydney) ; Rowe, Dominic B. (Macquarie University) ; Steyn, Frederik J. (University of Queensland) ; Williams, Kelly (Macquarie University) ; Mather, Karen A. (Neuroscience Research Australia Institute) ; Sachdev, Perminder S. (Prince of Wales Hospital (Australia)) ; Henders, Anjali K. (University of Queensland) ; Wallace, Leanne (University of Queensland) ; De Carvalho, Mamede (Universidade de Lisboa) ; Pinto, Susana (Universidade de Lisboa) ; Petri, Susanne (Hannover Medical School) ; Weber, Markus (Kantonsspital St. Gallen) ; Rouleau, Guy A. (McGill University) ; Silani, Vincenzo (Università degli Studi di Milano) ; Curtis, Charles J. (King's College London) ; Breen, Gerome (King's College London) ; Glass, Jonathan D. (Emory University School of Medicine) ; Brown, Robert H. (University of Massachusetts Medical School) ; Landers, John E. (University of Massachusetts Medical School) ; Shaw, Christopher E. (King's College London) ; Andersen, Peter Munch (Umeå University) ; Groen, Ewout J. N. (Utrecht University) ; van Es, Michael A. (Utrecht University) ; Pasterkamp, R. Jeroen (Utrecht University) ; Fan, Dongsheng (Peking University) ; Garton, Fleur C. (University of Queensland) ; McRae, Allan F. (University of Queensland) ; Smith, George Davey (Bristol Medical School) ; Gaunt, Tom (Bristol Medical School) ; Eberle, Michael A. (Illumina) ; Mill, Jonathan (University of Exeter) ; McLaughlin, Russell L. (Trinity College Dublin) ; Hardiman, Orla (Trinity College Dublin) ; Kenna, Kevin P. (Utrecht University) ; Wray, Naomi R. (University of Queensland) ; Tsai, Ellen (Biogen. Translational Biology) ; Runz, Heiko (Biogen. Translational Biology) ; Franke, Lude (University Medical Centre Groningen) ; Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ; Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ; van den Berg, Leonard H. (Utrecht University) ; Veldink, Jan (Utrecht University) ; Universitat Autònoma de Barcelona
2022 - 10.1038/s41588-022-01020-3
Nature genetics, Vol. 54 (january 2022) , p. 361  
5.
32 p, 8.9 MB Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology / van Rheenen, Wouter (Utrecht University) ; van der Spek, Rick A. A. (Utrecht University) ; Bakker, Mark K. (Utrecht University) ; van Vugt, Joke J. F. A. (Utrecht University) ; Hop, Paul J. (Utrecht University) ; Zwamborn, Ramona A. J. (Utrecht University.) ; de Klein, Niek (University Medical Centre Groningen) ; Westra, Harm-Jan (University Medical Centre Groningen) ; Bakker, Olivier B. (University Medical Centre Groningen) ; Deelen, Patrick (Utrecht University) ; Shireby, Gemma (University of Exeter) ; Hannon, Eilis (University of Exeter) ; Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ; Baird, Denis (University of Bristol) ; Restuadi, Restuadi (University of Queensland) ; Dolzhenko, Egor (Illumina) ; Dekker, Annelot M. (Utrecht University) ; Gawor, Klara (Utrecht University) ; Westeneng, Henk-Jan (Utrecht University) ; Tazelaar, Gijs H. P. (Utrecht University) ; van Eijk, Kristel R. (Utrecht University) ; Kooyman, Maarten (Utrecht University) ; Byrne, Ross P. (Trinity College Dublin) ; Doherty, Mark (Trinity College Dublin) ; Heverin, Mark (Trinity College Dublin) ; Al Khleifat, Ahmad (King's College London) ; Iacoangeli, Alfredo (King's College London) ; Shatunov, Aleksey (King's College London) ; Ticozzi, Nicola (Università degli Studi di Milano) ; Cooper-Knock, Johnathan (University of Sheffield) ; Smith, Bradley N. (King's College London) ; Gromicho, Marta (Universidade de Lisboa) ; Chandran, Siddharthan (University of Edinburgh) ; Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ; Morrison, Karen E. (Queen's University Belfast) ; Shaw, Pamela J. (University of Sheffield) ; Hardy, John (University College London) ; Orrell, Richard W. (University College London) ; Sendtner, Michael (University Hospital Würzburg) ; Meyer, Thomas (Humboldt University) ; Başak, Nazli (Bogazici University) ; van der Kooi, Anneke J. (Academic Medical Center) ; Ratti, Antonia (Università degli Studi di Milano) ; Fogh, Isabella (King's College London) ; Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ; Lauria, Giuseppe (University of Milan) ; Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ; Cereda, Cristina (IRCCS Mondino Foundation) ; Sproviero, Daisy (IRCCS Mondino Foundation) ; D'Alfonso, Sandra (University of Eastern Piedmont) ; Sorarù, Gianni (University of Padova) ; Siciliano, Gabriele (University of Pisa) ; Filosto, Massimiliano (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Brunetti, Maura (University of Torino) ; Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza.) ; Grassano, Maurizio (University of Torino) ; Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G) ; Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ; Osmanovic, Alma (University Hospital Essen (Alemanya)) ; Nordin, Angelica (Umeå University) ; Lerner, Yossef (Hadassah Medical Center) ; Zabari, Michal (Hadassah Medical Center) ; Gotkine, Marc (Hadassah Medical Center) ; Baloh, Robert H. (Cedars-Sinai Medical Center) ; Bell, Shaughn (Cedars-Sinai Medical Center) ; Vourc'h, Patrick (UMR 1253, Université de Tours) ; Corcia, Philippe (CHU de Tours) ; Couratier, Philippe (Université de Limoges) ; Millecamps, Stéphanie (ICM, Sorbonne Université) ; Meininger, Vincent (Hôpital des Peupliers) ; Salachas, François (Hôpital de la Pitié-Salpêtrière, AP-HP) ; Mora Pardina, Jesus S. (Hospital San Rafael, Madrid) ; Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Dion, Patrick A. (McGill University) ; Ross, Jay P. (McGill University) ; Ludolph, Albert C. (Ulm University) ; Weishaupt, Jochen H. (Heidelberg University) ; Brenner, David (Heidelberg University) ; Freischmidt, Axel (German Center for Neurodegenerative Diseases (DZNE) Ulm) ; Bensimon, Gilbert (CHU-Nîmes) ; Brice, Alexis (Hôpital de la Pitié Salpêtrière.) ; Durr, Alexandra (Hôpital de la Pitié Salpêtrière) ; Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ; Saker-Delye, Safa (Genethon, CNRS UMR) ; Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ; Topp, Simon (King's College London) ; Rademakers, Rosa (Mayo Clinic College of Medicine) ; Tittmann, Lukas (Christian Albrechts-University Kiel) ; Lieb, Wolfgang (Christian Albrechts-University Kiel) ; Franke, Andre (Kiel University) ; Ripke, Stephan (Charité - Universitätsmedizin Berlin) ; Braun, Alice (Charité - Universitätsmedizin Berlin) ; Kraft, Julia (Charité - Universitätsmedizin Berlin) ; Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ; Hofman, Albert (Erasmus Medical Center Rotterdam) ; Rietschel, Marcella (Heidelberg University. Central Institute of Mental Health) ; Cichon, Sven (Institute of Neuroscience and Medicine INM-1, Research Center Juelich) ; Nöthen, Markus M. (University of Bonn. Life and Brain Center) ; Amouyel, Philippe (University of Lille) ; Traynor, Bryan J. (Johns Hopkins University) ; Singleton, Andrew B. (National Institute on Aging, NIH) ; Mitne Neto, Miguel (Universidade de São Paulo) ; Cauchi, Ruben J. (University of Malta) ; Ophoff, Roel A. (University of California) ; Wiedau-Pazos, Martina (University of California) ; Lomen-Hoerth, Catherine (University of California) ; Van Deerlin, Vivianna (University of Pennsylvania) ; Grosskreutz, Julian (University of Luebeck) ; Roediger, Annekathrin (Jena University Hospital (Alemanya)) ; Gaur, Nayana (Jena University Hospital (Alemanya)) ; Jörk, Alexander (Jena University Hospital (Alemanya)) ; Barthel, Tabea (Jena University Hospital (Alemanya)) ; Theele, Erik (Jena University Hospital (Alemanya)) ; Ilse, Benjamin (Jena University Hospital (Alemanya)) ; Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ; Witte, Otto W. (Jena University Hospital (Alemanya)) ; Steinbach, Robert (Jena University Hospital (Alemanya)) ; Hübner, Christian A. (Jena University Hospital (Alemanya)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Demeshonok, Vera (ALS-Care Center, 'GAOORDI', Medical Clinic of the St. Petersburg) ; Ataulina, Anastasia (Bujanov Moscow Clinical Hospital) ; Rogelj, Boris (University of Ljubljana) ; Koritnik, Blaž (University Medical Centre Ljubljana.) ; Zidar, Janez (University Medical Centre Ljubljana) ; Ravnik-Glavač, Metka (University of Ljubljana.) ; Glavač, Damjan (University of Ljubljana) ; Stević, Zorica (University of Belgrade) ; Drory, Vivian (Tel Aviv University) ; Povedano, Monica (Hospital Universitari de Bellvitge) ; Blair, Ian P. (Macquarie University) ; Kiernan, Matthew C. (University of Sydney) ; Benyamin, Beben (University of South Australia) ; Henderson, Robert D. (Royal Brisbane and Women's Hospital) ; Furlong, Sarah (Macquarie University) ; Mathers, Susan (Calvary Health Care Bethlehem) ; McCombe, Pamela A. (University of Queensland) ; Needham, Merrilee (Murdoch University) ; Ngo, Shyuan T. (University of Queensland) ; Nicholson, Garth A. (Concord Repatriation General Hospital) ; Pamphlett, Roger (University of Sydney) ; Rowe, Dominic B. (Macquarie University) ; Steyn, Frederik J. (University of Queensland) ; Williams, Kelly (Macquarie University) ; Mather, Karen A. (Neuroscience Research Australia Institute) ; Sachdev, Perminder S. (Neuropsychiatric Institute) ; Henders, Anjali K. (University of Queensland. Institute for Molecular Bioscience) ; Wallace, Leanne (University of Queensland. Institute for Molecular Bioscience) ; De Carvalho, Mamede (Universidade de Lisboa) ; Pinto, Susana (Universidade de Lisboa) ; Petri, Susanne (Hannover Medical School) ; Weber, Markus (Kantonsspital St. Gallen) ; Rouleau, Guy A. (McGill University) ; Silani, Vincenzo (Università degli Studi di Milano) ; Curtis, Charles J. (King's College London) ; Breen, Gerome (King's College London.) ; Glass, Jonathan D. (Emory University School of Medicine) ; Brown, Robert H. (University of Massachusetts Medical School) ; Landers, John E. (University of Massachusetts Medical School) ; Shaw, Christopher E. (King's College London) ; Andersen, Peter Munch (Umeå University) ; Groen, Ewout J. N. (Utrecht University) ; van Es, Michael A. (Utrecht University) ; Pasterkamp, R. Jeroen (Utrecht University) ; Fan, Dongsheng (Peking University) ; Garton, Fleur C. (University of Queensland) ; McRae, Allan F. (University of Queensland) ; Smith, George Davey (Bristol Medical School) ; Gaunt, Tom (Bristol Medical School) ; Eberle, Michael A. (Illumina) ; Mill, Jonathan (University of Exeter) ; McLaughlin, Russell L. (Trinity College Dublin) ; Hardiman, Orla (Trinity College Dublin) ; Kenna, Kevin P. (Utrecht University) ; Wray, Naomi R. (University of Queensland) ; Tsai, Ellen (Biogen) ; Runz, Heiko (Biogen. Translational Biology) ; Franke, Lude (University Medical Centre Groningen) ; Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ; Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ; van den Berg, Leonard H. (Utrecht University) ; Veldink, Jan (Utrecht University) ; Universitat Autònoma de Barcelona
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. [...]
2021 - 10.1038/s41588-021-00973-1
Nature genetics, Vol. 53 (december 2021) , p. 1636-1648  
6.
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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