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11.
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15 p, 5.0 MB |
Annexin A5 prevents amyloid-β-induced toxicity in choroid plexus : implication for Alzheimer's disease
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Bartolome, Fernando (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Krzyzanowska, Agnieszka (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
de la Cueva, Macarena (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Pascual, Consuelo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Antequera, Desiree (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Spuch, Carlos (Centro de Investigación Biomédica en Red de Salud Mental) ;
Villarejo-Galende, Alberto (Hospital Universitario 12 de Octubre (Madrid)) ;
Rábano, Alberto (Fundación Centro de Investigación de Enfermedades Neurológicas (CIEN)) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Ferrer, Isidro (Universitat de Barcelona) ;
Hardy, John (UCL Institute of Neurology (Regne Unit)) ;
Abramov, Andrey Y. (UCL Institute of Neurology (Regne Unit)) ;
Carro, Eva (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Universitat Autònoma de Barcelona
In Alzheimer's disease (AD) amyloid-β (Aβ) deposits may cause impairments in choroid plexus, a specialised brain structure which forms the blood-cerebrospinal fluid (CSF) barrier. We previously carried out a mass proteomic-based study in choroid plexus from AD patients and we found several differentially regulated proteins compared with healthy subjects. [...]
2020 -  10.1038/s41598-020-66177-5
Scientific reports, Vol. 10 (june 2020)
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12.
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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
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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
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13.
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15 p, 570.6 KB |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
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Costa, Beatrice ;
Manzoni, Claudia ;
Bernal-Quiros, Manuel ;
Kia, Demis A. ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio ;
Alvarez, Victoria ;
Andreassen, Ole A. ;
Anfossi, Maria ;
Bagnoli, Silvia ;
Benussi, Luisa ;
Bernardi, Livia ;
Binetti, Giuliano ;
Blackburn, Daniel ;
Boada, Mercè ;
Borroni, Barbara ;
Bowns, Lucy ;
Bråthen, Geir ;
Bruni, Amalia ;
Chiang, Huei-Hsin ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Colville, Shuna ;
Conidi, Maria E. ;
Cope, Tom E. ;
Cruchaga, Carlos ;
Cupidi, Chiara ;
Di Battista, Maria Elena ;
Diehl-Schmid, Janine ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Durante, Elisabetta ;
Flisar, Dušan ;
Frangipane, Francesca ;
Galimberti, Daniela ;
Gallo, Maura ;
Gallucci, Maurizio ;
Ghidoni, Roberta ;
Graff, Caroline ;
Grafman, Jordan H. ;
Grossman, Murray ;
Hardy, John ;
Hernández, Isabel ;
Holloway, Guy J. T. ;
Huey, Edward D. ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Karydas, Anna ;
Khoshnood, Behzad ;
Kramberger, Milica G. ;
Kristiansen, Mark ;
Lewis, Patrick ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Madhan, Gaganjit K. ;
Maletta, Raffaele ;
Maver, Aleš ;
Menendez-Gonzalez, Manuel ;
Milan, Graziella ;
Miller, Bruce L. ;
Mol, Merel O. ;
Momeni, Parastoo ;
Moreno-Grau, Sonia ;
Morris, Chris M. ;
Nacmias, Benedetta ;
Nilsson, Christer ;
Novelli, Valeria ;
Öijerstedt, Linn ;
Padovani, Alessandro ;
Pal, Suvankar ;
Panchbhaya, Yasmin ;
Pastor, Pau ;
Peterlin, Borut ;
Piaceri, Irene ;
Pickering-Brown, S. ;
Pijnenburg, Yolande ;
Puca, Annibale A. ;
Rainero, Innocenzo ;
Rendina, Antonella ;
Richardson, Anna M. T. ;
Rogaeva, Ekaterina ;
Rogelj, Boris ;
Rollinson, Sara ;
Rossi, Giacomina ;
Rossmeier, Carola ;
Rowe, James B. ;
Rubino, Elisa ;
Ruiz, Agustín ;
Sanchez-Valle, Raquel ;
Sando, Sigrid B. ;
Santillo, Alexander F. ;
Saxon, Jennifer ;
Scarpini, Elio ;
Serpente, Maria ;
Smirne, Nicoletta ;
Sorbi, Sandro ;
Suh, EunRan ;
Tagliavini, Fabrizio ;
Thompson, Jennifer C. ;
Trojanowski, John Q. ;
Van Deerlin, Vivianna M. ;
Van der Zee, Julie ;
Van Broeckhoven, Christine ;
van Rooij, Jeroen ;
Van Swieten, John C. ;
Veronesi, Arianna ;
Vitale, Emilia ;
Waldö, Maria L. ;
Woodward, Cathy ;
Yokoyama, Jennifer ;
Escott-Price, Valentina ;
Polke, James M. ;
Ferrari, Raffaele ;
Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302
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14.
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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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15.
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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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Alzheimer's disease in Down syndrome : An overlooked population for prevention trials
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Strydom, André (South London and Maudsley NHS Foundation Trust) ;
Coppus, Antonia (Department of Primary and Community Care, Radboud University Medical Center, Nijmegen) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Danek, Adrian (Ludwig-Maximilians-Universität München) ;
Fortea, Juan (Fundació Catalana Síndrome de Down) ;
Hardy, John (Reta Lila Weston Institute, Institute of Neurology, University College London) ;
Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) site Munich) ;
Nuebling, Georg (Ludwig-Maximilians-Universität München) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ;
Ritchie, Craig (Centre for Clinical Brain Sciences. University of Edinburgh) ;
van Duijn, Cornelia (Department of Epidemiology, Erasmus Medical Centre, Rotterdam) ;
Zaman, Shahid (Cambridge University Hospitals NHS Foundation Trust (Regne Unit)) ;
Zetterberg, Henrik (Sahlgrenska University Hospital (Suècia)) ;
Universitat Autònoma de Barcelona
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. [...]
2018 - 10.1016/j.trci.2018.10.006
Alzheimer's & dementia, Vol. 4 (december 2018) , p. 703-713
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