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12 p, 1.2 MB |
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
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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
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2.
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1 p, 301.7 KB |
Erratum to : Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility
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Sevlever, Daniel (Mayo Clinic College of Medicine, Jacksonville) ;
Zou, Fanggeng (Cincinnati Children's Hospital Medical Center) ;
Ma, Li (Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Sebastian (Mayo Clinic College of Medicine, Jacksonville) ;
Crump, Michael G. (Mayo Clinic College of Medicine, Jacksonville) ;
Culley, Oliver J. (Mayo Clinic College of Medicine, Jacksonville) ;
Hunter, Talisha A. (Mayo Clinic College of Medicine, Jacksonville) ;
Bisceglio, Gina D. (Mayo Clinic College of Medicine, Jacksonville) ;
Younkin, Linda (Mayo Clinic College of Medicine, Jacksonville) ;
Allen, Mariet (Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Minerva M. (Mayo Clinic College of Medicine, Jacksonville) ;
Sando, Sigrid B. (Norwegian University of Science and Technology) ;
Aasly, Jan O. (Norwegian University of Science and Technology) ;
Dickson, Dennis W. (Mayo Clinic College of Medicine, Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic College of Medicine, Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic College of Medicine, Rochester) ;
Deák, Ferenc (University of Oklahoma HSC, Oklahoma City) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
2015 - 10.1186/s13024-015-0047-2
Molecular neurodegeneration, Vol. 10 (september 2015)
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3.
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13 p, 722.8 KB |
A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Ferrari, Raffaele (University College London. Institute of Neurology) ;
Tartaglia, Maria Carmela (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada) ;
Keith, Julia (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Surace, Ezequiel I (Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (Buenos Aires, Argentina)) ;
Wolf, Uri (University of Toronto. Department of Psychiatry) ;
Sato, Christine (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Grinberg, Mark (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Liang, Yan (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Xi, Zhengrui (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Dupont, Kyle (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McGoldrick, Philip (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Weichert, Anna (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McKeever, Paul M. (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Schneider, Raphael (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
McCorkindale, Michael D. (University College London. Institute of Neurology) ;
Manzoni, Claudia (School of Pharmacy, University of Reading, Whiteknights, Reading, UK) ;
Rademakers, Rosa (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Parisi, Joseph E. (Department of Laboratory Medicine and Pathology and Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Boeve, Bradley (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Petersen, Ronald C. (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Miller, Bruce L. (Department of Neurology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
Seeley, William W. (Department of Neurology and Department of Pathology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
van Swieten, John C. (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
van Rooij, Jeroen (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
Pijnenburg, Yolande (Amsterdam UMC. University Medical Center) ;
van der Zee, Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Le Ber, Isabelle (Reference Center for Rare and Young Dementias, Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, Hopital Pitié-Salpêtrière, Paris, France) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Suh, EunRan (University of Pennsylvania) ;
Rohrer, Jonathan D. (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Öijerstedt, Linn (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pickering-Brown, S. (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rollinson, Sara (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rossi, Giacomina (Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Tagliavini, Fabrizio (Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Brooks, William S. (Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ;
Dobson-Stone, Carol (School of Medical Sciences, University of New South Wales, Sydney, Australia) ;
Halliday, Glenda M. (University of Sydney. Brain and Mind Centre) ;
Hodges, John R. (Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia) ;
Piguet, Olivier (School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, Australia) ;
Binetti, Giuliano (MAC Memory Center, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Nacmias, Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy) ;
Sorbi, Sandro (IRCCS Don Gnocchi, Florence, Italy) ;
Bruni, Amalia (Regional Neurogenetic Centre, Lamezia Terme, Azienda Sanitaria Provinciale Catanzaro, Italy) ;
Galimberti, Daniela (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Scarpini, Elio (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Rainero, Innocenzo (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Rubino, Elisa (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz, Agustin (Institut Català de Neurociènces Aplicades) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Pastor, Pau (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Diez-Fairen, Monica (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ;
Pasquier, Florence (Centre Hospitalier Régional Universitaire de Lille) ;
Deramecourt, Vincent (Centre Hospitalier Régional Universitaire de Lille) ;
Lebouvier, Thibaud (Centre Hospitalier Régional Universitaire de Lille) ;
Perneczky, Robert (Imperial College London. School of Public Health) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Grafman, Jordan (Weinberg College of Arts and Sciences Northwestern University (Chicago, Estats Units d'Amèrica)) ;
Huey, Edward D. (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (Columbia, Estats Units d'Amèrica)) ;
Mayeux, Richard (The Gertrude H. Sergievsky Center, The Departments of Neurology, Psychiatry, Epidemiology, School of Public Health, Columbia University, New York, NY, USA) ;
Nalls, Michael A.. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ;
Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ;
Hardy, John (University College London. Institute of Neurology) ;
Robertson, Janice (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Zinman, Lorne (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Rogaeva, Ekaterina (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada)
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and age of FTD/ALS onset. [...]
2018 - 10.1093/brain/awy238
Brain, Vol. 141 (september 2018) , p. 2895-2907
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14 p, 1.2 MB |
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ;
Jansen, Iris E (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ;
Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ;
van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ;
Stringa, Najada (Vrije Universiteit Amsterdam) ;
Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ;
Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ;
Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ;
Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ;
Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ;
Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ;
Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Lage, Carmen (IDIVAL) ;
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ;
Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Then Bergh, Florian (University of Leipzig. Department of Neurology) ;
Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ;
Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ;
Indakoetxea, Begoña (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ;
Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ;
Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ;
van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ;
Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ;
Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Rodríguez-Rodríguez, Eloy (IDIVAL) ;
Boeve, Bradley (Mayo Clinic Minnesota. Department of Neurology) ;
Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ;
Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ;
van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ;
Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ;
Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ;
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ;
Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Zettl, Uwe K. (University of Rostock. Department of Neurology) ;
van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ;
Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ;
Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ;
Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ;
de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ;
Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ;
Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ;
Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ;
Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ;
Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ;
Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ;
Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Pijnenburg, Yolande (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ;
Chinnery, Patrick F. (University of Cambridge. MRC Mitochondrial Biology Unit) ;
Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ;
Huisman, Martijn A. (VU University. Department of Sociology) ;
Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Moreno, Fermin (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ;
Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ;
Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Sánchez-Juan, Pascual (IDIVAL) ;
Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ;
Scholz, Sonja (Johns Hopkins University Medical Center. Department of Neurology) ;
Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ;
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ;
van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Universitat Autònoma de Barcelona
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. [...]
2019 - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 138 (may 2019) , p. 237-250
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Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ;
Jansen, Iris E (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ;
Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ;
van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ;
Stringa, Najada (Vrije Universiteit Amsterdam) ;
Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ;
Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ;
Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ;
Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ;
Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ;
Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ;
Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Lage, Carmen (IDIVAL) ;
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ;
Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Then Bergh, Florian (University of Leipzig. Department of Neurology) ;
Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ;
Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ;
Indakoetxea, Begoña (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ;
Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ;
Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ;
van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ;
Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ;
Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Rodríguez-Rodríguez, Eloy (IDIVAL) ;
Boeve, Bradley (Mayo Clinic Minnesota. Department of Neurology) ;
Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ;
Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ;
van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ;
Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ;
Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ;
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ;
Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Zettl, Uwe K. (University of Rostock. Department of Neurology) ;
van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ;
Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ;
Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ;
Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ;
de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ;
Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ;
Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ;
Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ;
Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ;
Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ;
Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ;
Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Pijnenburg, Yolande (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ;
Chinnery, Patrick F. (University of Cambridge. MRC Mitochondrial Biology Unit) ;
Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ;
Huisman, Martijn A. (VU University. Department of Sociology) ;
Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Moreno, Fermin (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ;
Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ;
Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Sánchez-Juan, Pascual (IDIVAL) ;
Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ;
Scholz, Sonja (Johns Hopkins University Medical Center. Department of Neurology) ;
Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ;
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ;
van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Universitat Autònoma de Barcelona
2020 - 10.1007/s00401-019-02107-8
Acta Neuropathologica, Vol. 139 (january 2020) , p. 959-962
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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
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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, 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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Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility
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Sevlever, Daniel (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Zou, Fanggeng (Cincinnati Children's Hospital Medical Center) ;
Ma, Li (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Sebastian (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Crump, Michael G. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Culley, Oliver J. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Hunter, Talisha A. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Bisceglio, Gina D. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Younkin, Linda (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Allen, Mariet (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Sando, Sigrid B. (Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway) ;
Aasly, Jan O. (Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic College of Medicine, Jacksonville) ;
Petersen, Ronald C. (Department of Neurology and the Mayo Alzheimer Disease Research Center, Mayo Clinic College of Medicine, Rochester, Minnesota) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Institut d'Investigació Biomèdica Sant Pau
Ajuts: Programa Miguel Servet de l'Instituto de Salud Carlos III i FEDER (European Funds for Regional Development). Alzheimer's disease is a neurodegenerative disorder in which extracellular deposition of β-amyloid (Aβ) oligomers causes synaptic injury resulting in early memory loss, altered homeostasis, accumulation of hyperphosphorylated tau and cell death. [...]
2015 - 10.1186/s13024-015-0015-x
Molecular neurodegeneration, Vol. 10 (april 2015)
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