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34 p, 16.2 MB |
Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ;
Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ;
Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ;
Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ;
Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ;
Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ;
Tomppo, Liisa (Helsinki University Hospital) ;
Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ;
Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ;
Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ;
Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ;
Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ;
Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ;
Nygaard, Marianne (Odense University Hospital (Dinamarca)) ;
Leonard, Hampton L. (Data Tecnica International) ;
Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ;
Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Judy, Renae L. (University of Pennsylvania. Department of Surgery) ;
Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ;
Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Bartz, Traci M. (University of Washington. Department of Biostatistics) ;
Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ;
Bis, Joshua C (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ;
Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Ridker, Paul M. (Harvard Medical School) ;
Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ;
Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ;
Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ;
De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ;
de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ;
Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Gasca, Natalie C. (University of Washington. Department of Biostatistics) ;
Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ;
Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ;
Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Havulinna, Aki S (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ;
Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ;
Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ;
Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Jeon, Christina E. (Los Angeles County Department of Public Health) ;
Jern, Christina (Sahlgrenska University Hospital (Suècia)) ;
Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ;
Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ;
Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ;
Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Kumar, Amit (Rajendra Institute of Medical Sciences) ;
Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ;
Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ;
Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ;
Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ;
Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ;
Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ;
Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ;
Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ;
Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ;
Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ;
Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ;
Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ;
Nalls, Mike A. (Data Tecnica International) ;
Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ;
O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ;
Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ;
Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ;
Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ;
Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ;
Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ;
Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ;
Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ;
Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ;
Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ;
Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Satizabal, Claudia L. (Framingham Heart Study) ;
Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ;
Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ;
Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ;
Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ;
Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ;
Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ;
Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ;
Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ;
van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ;
Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ;
Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ;
Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ;
Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ;
Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ;
Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ;
Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ;
Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ;
Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ;
Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ;
Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Strbian, Daniel (Helsinki University Hospital) ;
Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ;
Adams, Hieab (Universidad Adolfo Ibáñez. Latin American Brain Health (BrainLat)) ;
Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ;
Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ;
Lathrop, G. Mark (McGill Genome Centre) ;
Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ;
Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ;
França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ;
Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ;
Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ;
de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ;
Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ;
Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ;
Longstreth, W. T. (University of Washington. Department of Neurology) ;
Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ;
Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ;
Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ;
Chasman, Daniel I. (Harvard Medical School) ;
Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ;
Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ;
Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ;
Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ;
Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ;
Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ;
Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ;
Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ;
Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Diseases) ;
Universitat Autònoma de Barcelona
Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry ,. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. [...]
2022 -  10.1038/s41586-022-05165-3
Nature, september 2022, p. 1-15
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A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA) : Rationale, Design, and Baseline Data
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Pagano, Gennaro (F Hoffmann-La Roche AG Research and Development Division) ;
Boess, Frank (Roche Pharma Research and Early Development) ;
Taylor, Kirsten I. (Faculty of Psychology. University of Basel) ;
Ricci, Benedicte (Roche Pharma Research and Early Development) ;
Mollenhauer, Brit ;
Poewe, Werner ;
Boulay, Anne ;
Anzures-Cabrera, Judith (Roche Products Ltd) ;
Vogt, Annamarie ;
Marchesi, Maddalena ;
Post, Anke ;
Nikolcheva, Tania ;
Kinney, Gene G. (Prothena Biosciences Inc. South San Francisco) ;
Zago, Wagner M. ;
Ness, Daniel K. ;
Svoboda, Hanno (F. Hoffmann-La Roche) ;
Britschgi, Markus ;
Ostrowitzki, Susanne ;
Simuni, Tanya ;
Marek, Kenneth (Institute for Neurodegenerative Disorders) ;
Koller, Martin ;
Sevigny, Jeff ;
Doody, Rachelle ;
Fontoura, Paulo ;
Umbricht, Daniel ;
Bonni, Azad ;
Altendorf, Claudia ;
Anandan, Chareyna ;
Andrews, Giulia ;
Ansquer, Solène ;
Arrouasse, Raphaele ;
Aslam, Sana ;
Azulay, Jean-Philippe ;
Baker, Jeanette ;
Balaguer Martinez, Ernest ;
Barbu, Shadi ;
Bardram, Kara ;
Bega, Danny ;
Bejr-kasem, Helena (Institut d'Investigació Biomèdica Sant Pau) ;
Benatru, Isabelle ;
Benchetrit, Eve ;
Bernhard, Felix ;
Besharat, Amir ;
Bette, Sagari ;
Bichon, Amelie ;
Billnitzer, Andrew ;
Blondeau, Sophie ;
Boraud, Thomas ;
Borngräber, Freiderike ;
Boyd, James ;
Brockmann, Kathrin ;
Brodsky, Matthew ;
Brown, Ethan ;
Bruecke, Christof ;
Calvas, Fabienne ;
Canelo, Monica ;
Carbone, Federico ;
Carroll, Claire ;
Casado Fernandez, Laura ;
Cassé-Perrot, Catherine ;
Castrioto, Anna ;
Catala, Helene ;
Chan, Justine ;
Cheriet, Samia ;
Ciabarra, Aanthony ;
Classen, Joseph ;
Coleman, Juliana ;
Coleman, Robert ;
Compta, Yaroslau ;
Corbillé, Anne-Gaëlle ;
Corvol, Jean-Christophe ;
Cosgaya, Marina ;
Dahodwala, Nabila ;
Damier, Philippe ;
David, Elodie ;
Davis, Thomas ;
Dean, Marissa ;
Debilly, Berengere ;
DeGiorgio, Janell ;
Deik, Andres ;
Delaby, Laure ;
Delfini, Marie-Helene ;
Derkinderen, Pascal ;
Derost, Philipp ;
de Toledo, María ;
Deuel, Lisa ;
Diaz-Hernandez, Ann Marie ;
Dietiker, Cameron ;
Dimenshteyn, Karina ;
Dotor, Julio ;
Durif, Franck ;
Ebentheuer, Jens ;
Eggert, Karla Maria ;
Eichau Madueño, Sara ;
Eickhoff, Claudia ;
Ellenbogen, Aaron ;
Ellmerer, Philipp ;
Esparragosa Vazquez, Inés ;
Eusebio, Alexandre ;
Ewert, Siobhan ;
Fang, John ;
Feigenbaum, Danielle ;
Fluchere, Frederique ;
Foubert-Samier, Alexandra ;
Fournier, Marie ;
Fradet, Anne ;
Fraix, Valerie ;
Frank, Samuel ;
Fries, Franca ;
Galitzky, Monique ;
Gallardo Pérez, Marisol ;
Moreno, Jose Manuel García ;
Gasca, Carmen ;
Gasser, Thomas ;
Gibbons, Joyce ;
Giordana, Caroline ;
González Martinez, Alicia ;
Goodman, Ira ;
Gorospe, Arantza ;
Goubeaud, Marie ;
Grabli, David ;
Graziella, Mangone ;
Grimaldi, Stephan ;
Gross, Jeffrey ;
Guimaraes-Costa, Raquel ;
Hartmann, Andreas ;
Hartmann, Christian ;
Hassell, Travis ;
Hauser, Robert ;
Hernandez, Antonio ;
Hernández-Vara, Jorge ;
Hoeglinger, Günter ;
Homedes, Christian ;
Horta, Andrea ;
Houeto, Jean-Luc ;
Huebl, Julius ;
Hui, Jennifer ;
Isaacson, Stuart ;
Jankovic, Joseph ;
Janzen, Annette ;
Jauregui, Junior ;
Jiao, Jocelyne ;
Martí Domenech, María José ;
Joseph, Xavier ;
Kadimi, Srinath ;
Kaminski, Pat ;
Kannenberg, Silja ;
Kassubek, Jan ;
Katz, Maya ;
Klos, Kevin ;
Klos, Shannon ;
Kobet, Christopher ;
Koebert, Jennifer ;
Krause, Patricia ;
Kuehn, Andrea ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Kumar, Rajeev ;
Kunz, Martin ;
Kurvits, Lille ;
Kwei, Kimberly ;
Laganiere, Simon ;
Laurens, Brice ;
Levin, Johannes ;
Levy, Oren ;
LeWitt, Peter ;
Cristóbal, Gurutz Linazasoro ;
Litvan, Irene ;
Lizarraga, Karlo ;
Longardner, Katherine ;
Lopez, Rocío ;
López Manzanares, Lydia ;
Lucas del Pozo, Sara ;
Luquín Pulido, María Rosario ;
Luthra, Nijee ;
Lyons, Kelly ;
Maass, Sylvia ;
Machetanz, Gerrit ;
Macías, Yolanda ;
Maltete, David ;
Manez Miro, Jorge Uriel ;
Mariani, Louise-Laure ;
Marin, Juan ;
Marini, Kathrin ;
Marques, Ana ;
Marti, Gloria ;
Martí Domenech, María José ;
Martinez, Saul ;
Meissner, Wassilios ;
Meoni, Sara ;
Mollenhauer, Brit ;
Martinez, Dunia Mon ;
Moon, Johnson ;
Moro, Elena ;
Morrison, Peter ;
Muehlberg, Christoph ;
Multani, Manpreet ;
Murphy, Christine ;
Nicholas, Anthony ;
Pahwa, Rajesh ;
Palasí Franco, Antoni ;
Pape, Heidi ;
Patel, Neepa ;
Patel, Prity ;
Peball, Marina ;
Peckham, Elizabeth ;
Peery, Terry ;
Perez, Rafael ;
Perez, Jesús ;
Petit, Alisa ;
Pinkhardt, Elmar ;
Poewe, Werner ;
Pomies, Elsa ;
Preterre, Cecile ;
Quinn, Joseph ;
Rascol, Olivier ;
Remy, Philippe ;
Richard, Irene ;
Roeben, Benjamin ;
Ruether, Emily ;
Rumpf, Jost-Julian ;
Russell, David ;
Salhi, Hayet ;
Samaniego-Toro, Daniela ;
Samier-Foubert, Alexandra ;
Sánchez, Antonio ;
Schmitt, Emmanuelle ;
Schnitzler, Alfons ;
Schorr, Oliver ;
Schwartzbard, Julie ;
Schweyer, Kerstin ;
Seppi, Klaus ;
Sergo, Victoria ;
Shill, Holly ;
Siderowf, Andrew ;
Simuni, Tanya ;
Spampinato, Umberto ;
Sriram, Ashok ;
Stover, Natividad ;
Tanner, Caroline ;
Tarakad, Arjun ;
Taylor, Carolyn ;
Thalamus, Claire ;
Toothaker, Thomas ;
Van Blercom, Nadege ;
Vanegas-Arrogave, Nora ;
Vela, Lydia ;
Vergnet, Sylvian ;
Vidal, Tiphaine ;
Vöglein, Jonathan ;
Walsh, Ryan ;
Waters, Cheryl ;
Wegscheider, Mirko ;
Weidinger, Endy ;
Weill, Caroline ;
Wenzel, Gregor ;
Witjas, Tatiana ;
Wurster, Isabel ;
Wright, Brenton ;
Zimmermann, Milan ;
Zuzuarregui, Rafael ;
Abt, Markus ;
Bamdadian, Atieh ;
Barata, Teresa ;
Barbet, Nicholas ;
Belli, Sara ;
Boess, Frank ;
Bonni, Azad ;
Borroni, Edilio ;
Boulay, Anne ;
Britschgi, Markus ;
Chague, Jerome ;
Cosson, Valerie ;
Czech, Christian ;
Deptula, Dennis ;
Diack, Cheikh ;
Doody, Rachelle ;
Dukart, Juergen ;
D'Urso, Giulia ;
Dziadek, Sebastian (F. Hoffmann-La Roche) ;
Eddleston, Hannah ;
Edgar, Chris ;
Essioux, Laurent ;
Farell, Morgan ;
Finch, Rebecca (Roche Products Ltd) ;
Fontoura, Paulo ;
Gruenbauer, Waltraud ;
Hahn, Andreas ;
Holiga, Stefan (F. Hoffmann-La Roche) ;
Honer, Michael ;
Jadidi, Shirin ;
Johnson-Wood, Kelly ;
Keller, Markus ;
Kilchenmann, Timothy ;
Koller, Martin ;
Kremer, Thomas ;
Kustermann, Thomas (F. Hoffmann-La Roche) ;
Landsdall, Claire ;
Lindemann, Michael (F. Hoffmann-La Roche) ;
Lipsmeier, Florian ;
Luzy, Cecile ;
Manchester, Marianne ;
Marchesi, Maddalena ;
Martenyi, Ferenc ;
Martin-Facklam, Meret ;
Mironova, Katerina ;
Monnet, Annabelle (F. Hoffmann-La Roche) ;
Moore, Emma ;
Ness, Daniel K. ;
Niggli, Markus ;
Nikolcheva, Tania (F. Hoffmann-La Roche) ;
Ostrowitzki, Susanne ;
Passmard, Benedicte ;
Poirier, Agnes ;
Post, Anke ;
Prasad, Megana ;
Pross, Nathalie (F. Hoffmann-La Roche) ;
Quock, Tiffany ;
Rose, Ellen ;
Sarry, Christoph ;
Schubert, Christine ;
Selkoe, Dennis ;
Sevigny, Jeff ;
Sink, Kaycee ;
Staunton, Hannah ;
Steven, Tim ;
Strasak, Alexander ;
Svoboda, Hanno ;
Tripuraneni, Radhika ;
Trundell, Dylan ;
Umbricht, Daniel ;
Verselis, Lynne ;
Vogt, Annamarie ;
Volkova-Volkmar, Ekaterina ;
Weber, Cornelia ;
Weber, Silke ;
Zago, Wagner (Prothena Biosciences Inc. (San Francisco))
Background: Currently available treatments for Parkinson's disease (PD) do not slow clinical progression nor target alpha-synuclein, a key protein associated with the disease. Objective: The study objective was to evaluate the efficacy and safety of prasinezumab, a humanized monoclonal antibody that binds aggregated alpha-synuclein, in individuals with early PD. [...]
2021 - 10.3389/fneur.2021.705407
Frontiers in neurology, Vol. 12 (january 2021) , p. 705407
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13 p, 794.1 KB |
New genes involved in Angelman syndrome-like : Expanding the genetic spectrum
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Aguilera, Cinthia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ramírez Mallafré, Ariadna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Brun-Gasca, Carme (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Dominguez-Carral, Jana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Delgadillo, Veronica (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Laurie, Steve (Centre de Regulació Genòmica) ;
Derdak, Sophia (Centre de Regulació Genòmica) ;
Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron) ;
de la Cruz, Xavier (Hospital Universitari Vall d'Hebron) ;
Capdevila, Núria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Spataro, Nino (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. [...]
2021 - 10.1371/journal.pone.0258766
PloS one, Vol. 16 (october 2021)
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1 p, 647.1 KB |
Publisher Correction : Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ;
Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ;
Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ;
Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ;
Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ;
Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ;
Tomppo, Liisa (Helsinki University Hospital (Finlàndia)) ;
Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ;
Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ;
Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ;
Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ;
Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ;
Cárcel-Márquez, Jara (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Nygaard, Marianne (Odense University Hospital (Dinamarca)) ;
Leonard, Hampton L. (Data Tecnica International) ;
Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ;
Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Judy, Renae L. (University of Pennsylvania. Department of Surgery) ;
Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ;
Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Bartz, Traci M. (University of Washington. Department of Biostatistics) ;
Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ;
Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Ridker, Paul M. (Harvard Medical School) ;
Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ;
Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ;
Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ;
De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ;
de Cid, Rafael (Institut Germans Trias i Pujol) ;
Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ;
Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Gasca, Natalie C. (University of Washington. Department of Biostatistics) ;
Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ;
Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ;
Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Havulinna, Aki S. (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ;
Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ;
Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ;
Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Jeon, Christina E. (Los Angeles County Department of Public Health) ;
Jern, Christina (Sahlgrenska University Hospital (Suècia)) ;
Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ;
Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ;
Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ;
Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Kumar, Amit (Rajendra Institute of Medical Sciences) ;
Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ;
Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ;
Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ;
Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ;
Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ;
Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ;
Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ;
Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ;
Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ;
Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ;
Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ;
Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ;
Nalls, Mike A. (Data Tecnica International) ;
Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ;
O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ;
Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ;
Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ;
Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ;
Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ;
Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ;
Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ;
Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ;
Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ;
Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ;
Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Satizabal, Claudia L. (Framingham Heart Study) ;
Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ;
Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ;
Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ;
Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ;
Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ;
Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ;
Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ;
Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ;
van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ;
Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ;
Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ;
Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ;
Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ;
Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ;
Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ;
Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ;
Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ;
Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ;
Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ;
Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Strbian, Daniel (Helsinki University Hospital (Finlàndia)) ;
Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ;
Adams, Hieab (Universidad Adolfo Ibáñez) ;
Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ;
Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ;
Lathrop, G. Mark (McGill Genome Centre) ;
Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ;
Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ;
França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ;
Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ;
Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ;
de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ;
Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ;
Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ;
Longstreth, W. T. (University of Washington. Department of Neurology) ;
Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ;
Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ;
Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ;
Chasman, Daniel I. (Harvard Medical School) ;
Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ;
Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ;
Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ;
Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ;
Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ;
Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ;
Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ;
Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ;
Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Disease) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41586-022-05492-5
Nature, Vol. 612 (november 2022) , p. E7
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Bullying victimization in young females with fragile-X-syndrome
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Joga-Elvira, Lorena (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Jacas, Carlos (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Joga, Maria Luisa (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Roche-Martínez, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Brun-Gasca, Carme (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut)
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. [...]
2020 - 10.3390/genes11091069
Genes, Vol. 11, núm. 9 (2020) , p. e1069
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6 p, 603.6 KB |
Identification of a de novo splicing variant in the Coffin-Siris gene, 1, in a patient with Angelman-like syndrome
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Aguilera, Cinthia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Laurie, Steve (Centre de Regulació Genòmica) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Derdak, Sophia (Centre de Regulació Genòmica) ;
Capdevila, Núria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ramírez Mallafré, Ariadna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Delgadillo, Veronica (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
García-Catalan, Maria Jesus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Brun-Gasca, Carme (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Universitat Autònoma de Barcelona
Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. [...]
2018 - 10.1002/mgg3.511
Molecular genetics & genomic medicine, Vol. 7 (december 2018)
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10 p, 196.5 KB |
Assessment of cognition and language in the early diagnosis of autism spectrum disorder : usefulness of the Bayley Scales of infant and toddler development, third edition
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Torras Mañá, Montserrat (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Gómez-Morales, A. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
González-Gimeno, I. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Fornieles Deu, Albert (Universitat Autònoma de Barcelona. Departament de Psicobiologia i de Metodologia de Ciències de la Salut) ;
Brun-Gasca, Carme (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut)
The aim of this study was to test the usefulness of the Cognitive and Language scales Bayley-III in the early assessment of cognitive and language functions in the context of an autism spectrum disorder (ASD) diagnosis. [...]
2016 - 10.1111/jir.12291
Journal of Intellectual Disability Research, Vol. 60, Issue 5 (May 2016) , p. 502-511
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