Resultados globales: 12 registros encontrados en 0.01 segundos.
Artículos, Encontrados 12 registros
Artículos Encontrados 12 registros  1 - 10siguiente  ir al registro:
1.
A saturated map of common genetic variants associated with human height / Yengo, Loic (The University of Queensland) ; Vedantam, Sailaja (Program in Medical and Population Genetics. Broad Institute of MIT and Harvard) ; Marouli, Eirini (William Harvey Research Institute. Barts and the London School of Medicine and Dentistry. Queen Mary University of London) ; Sidorenko, Julia (Institute for Molecular Bioscience. The University of Queensland) ; Bartell, Eric (Harvard Medical School) ; Sakaue, Saori (Divisions of Genetics and Rheumatology. Brigham and Women's Hospital and Department of Medicine. Harvard Medical School) ; Graff, Marielisa (Gillings School of Global Public Health. University of North Carolina at Chapel Hill) ; Eliasen, Anders U. (Section for Bioinformatics. Department of Health Technology. Technical University of Denmark) ; Jiang, Yunxuan (23andMe) ; Raghavan, Sridharan (Division of Biomedical Informatics and Personalized Medicine) ; Miao, Jenkai (Broad Institute of MIT and Harvard) ; Arias, Joshua D. (National Cancer Institute) ; Graham, Sarah E. (University of Michigan) ; Mukamel, Ronen E. (Harvard Medical School) ; Spracklen, Cassandra N. (University of Massachusetts) ; Yin, Xianyong (University of Michigan School of Public Health) ; Chen, Shyh-Huei (Wake Forest School of Medicine) ; Ferreira, Teresa (University of Oxford) ; Highland, Heather H. (University of North Carolina at Chapel Hill) ; Ji, Yingjie (University of Exeter) ; Karaderi, Tugce (University of Oxford) ; Lin, Kuang (Nuffield University of Oxford) ; Lüll, Kreete (University of Tartu) ; Malden, Deborah (University of Oxford) ; Medina-Gomez, Carolina (University Medical Center Rotterdam) ; Machado, Moara (National Cancer Institute) ; Moore, Amy (RTI International) ; Rüeger, Sina (Swiss Institute of Bioinformatics) ; Sim, Xueling (National University of Singapore) ; Vrieze, Scott (University of Minnesota) ; Ahluwalia, Tarunveer Singh (University of Copenhagen) ; Akiyama, Masato (Kyushu University) ; Allison, Matthew A. (University of California (San Diego, Estats Units)) ; Álvarez, Marcus (David Geffen School of Medicine) ; Andersen, Mette korre (University of Copenhagen) ; Ani, Alireza (Isfahan University of Medical Sciences) ; Appadurai, Vivek (Copenhagen University Hospital) ; Arbeeva, Liubov (University of North Carolina) ; Bhaskar, Seema (CSIR-Centre for Cellular and Molecular Biology) ; Bielak, Lawrence F. (University of Michigan School of Public Health) ; Bollepalli, Sailalitha (University of Helsinki) ; Bonnycastle, Lori L. (National Institutes of Health) ; Bork-Jensen, Jette (University of Copenhagen) ; Bradfield, J.P. (Quantinuum Research) ; Bradford, Y. (University of Pennsylvania) ; Braund, P.S. (Glenfield Hospital) ; Brody, J.A. (University of Washington) ; Burgdorf, K.S. (Copenhagen University) ; Cade, B.E. (Brigham and Women's Hospital) ; Cai, H. (Vanderbilt University Medical Center) ; Cai, Q. (Vanderbilt University Medical Center) ; Campbell, A. (University of Edinburgh) ; Cañadas-Garre, M. (Queen's University of Belfast) ; Catamo, E. (Burlo Garofolo) ; Chai, J.F. (National University of Singapore and National University Health System) ; Chai, X. (National University of Singapore and National University Health System) ; Chang, L.C. (Academia Sinica) ; Chang, Y.C. (National Taiwan University Hospital) ; Chen, C.H. (Academia Sinica) ; Chesi, A. (Children's Hospital of Philadelphia) ; Choi, S.H. (Broad Institute of MIT and Harvard) ; Chung, R.H. (National Health Research Institutes) ; Cocca, M. (Burlo Garofolo) ; Concas, M.P. (Burlo Garofolo) ; Couture, C. (Université Laval) ; Cuellar-Partida, Gabriel (University of Queensland Diamantina Institute) ; Danning, R. (Brigham and Women's Hospital) ; Daw, E.W. (Washington University School of Medicine) ; Degenhard, F. (Christian-Albrechts University of Kiel) ; Delgado, G.E. (Heidelberg University) ; Delitala, A. (Università degli Studi di Sassari) ; Demirkan, A. (University of Surrey) ; Deng, X. (Boston University School of Public Health) ; Devineni, P. (VA Boston Healthcare System) ; Dietl, A. (University Hospital Regensburg) ; Dimitriou, M. (Harokopio University of Athens) ; Dimitrov, L. (Medical Center Boulevard) ; Dorajoo, R. (Duke-NUS Medical School) ; Ekici, A.B. (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Engmann, J.E. (University College London) ; Fairhurst-Hunter, Z. (University of Oxford) ; Farmaki, A.E. (Harokopio University of Athens) ; Faul, J.D. (University of Michigan) ; Fernandez-Lopez, J.C. (National Institute of Genomic Medicine) ; Forer, L. (Medical University of Innsbruck) ; Francescatto, M. (University of Trieste) ; Freitag-Wolf, S. (Kiel University) ; Fuchsberger, C. (Affiliated Institute of the University of Lübeck) ; Galesloot, T.E. (Radboud University Medical Center) ; Gao, Y. (University of Mississippi) ; Gao, Z. (Helmholtz Zentrum München Research Center for Environmental Health) ; Geller, F. (Statens Serum Institut) ; Giannakopoulou, O. (Queen Mary University of London) ; Giulianini, F. (Brigham and Women's Hospital) ; Gjesing, A.P. (University of Copenhagen) ; Goel, A. (University of Oxford) ; Gordon, S.D. (QIMR Berghofer Medical Research Institute) ; Gorski, M. (University of Regensburg) ; Grove, J. (Aarhus University) ; Guo, X. (Harbor-UCLA Medical Center) ; Gustafsson, S. (Uppsala University) ; Haessler, J. (Fred Hutchinson Cancer Research Center) ; Hansen, T.F. (Copenhagen University Hospital) ; Havulinna, A.S. (Finnish Institute for Health and Welfare) ; Haworth, S.J. (University of Bristol) ; He, J. (Vanderbilt University Medical Center) ; Heard-Costa, N. (Framingham Heart Study) ; Hebbar, P. (Dasman Diabetes Institute) ; Hindy, G. (Lund University) ; Ho, Y.L.A. (Veterans Affairs Boston Healthcare System) ; Hofer, E. (Medical University of Graz) ; Holliday, E. (University of Newcastle) ; Horn, K. (University of Leipzig) ; Hornsby, W.E. (University of Michigan) ; Hottenga, J.J. (Vrije Universiteit Amsterdam) ; Huang, H. (Chan School of Public Health) ; Huang, J. (Peking University) ; Huerta-Chagoya, A. (Instituto Nacional de Ciencias Médicas y Nutrición) ; Huffman, J.E. (Veterans Affairs Boston Healthcare System) ; Hung, Y.J. (Tri-Service General Hospital Songshan Branch) ; Huo, S. (Chinese Academy of Sciences) ; Hwang, M.Y. (National Institute of Health) ; Iha, H. (Otsuka Pharmaceutical Co.) ; Ikeda, D.D. (Otsuka Pharmaceutical Co.) ; Isono, M. (National Center for Global Health and Medicine) ; Jackson, A.U. (University of Michigan School of Public Health) ; Jäger, S. (German Center for Diabetes Research (DZD)) ; Jansen, I.E. (Vrije Universiteit Medical Center) ; Johansson, I. (Umeå University) ; Jonas, J.B. (Capital Medical University) ; Jonsson, A. (University of Copenhagen) ; Jørgensen, T. (University of Copenhagen) ; Kalafati, I.P. (Harokopio University of Athens) ; Kanai, M. (Osaka University Graduate School of Medicine) ; Kanoni, S. (Queen Mary University of London) ; Kårhus, L.L. (Copenhagen University Hospital) ; Kasturiratne, A. (University of Kelaniya) ; Katsuya, T. (Osaka University Graduate School of Medicine) ; Kawaguchi, T. (Kyoto University Graduate School of Medicine) ; Kember, R.L. (University of Pennsylvania) ; Kentistou, K.A. (University of Edinburgh) ; Kim, H.N. (Sungkyunkwan University) ; Kim, Y.J. (National Institute of Health) ; Kleber, M.E. (SYNLAB MVZ Humangenetik Mannheim) ; Knol, M.J. (University Medical Center Rotterdam) ; Kurbasic, A. (Lund University) ; Lauzon, M. (Harbor-UCLA Medical Center) ; Le, P. (University of Toronto at Mississauga) ; Lea, R. (Queensland University of Technology) ; Lee, J.Y. (Soonchunhyang Mirai Medical Center) ; Leonard, H.L. (Data Tecnica International) ; Li, S.A. (Leidos Biomedical Research) ; Li, X. (St Cloud State University) ; Liang, J. (Case Western Reserve University) ; Lin, H. (University of Massachusetts Chan Medical School) ; Lin, S.Y. (Taichung Veterans General Hospital) ; Liu, J. (Genome Institute of Singapore) ; Liu, X. (Statens Serum Institut) ; Lo, K.S. (Montreal Heart Institute) ; Long, J. (Vanderbilt University Medical Center) ; Lores-Motta, L. (Radboud University Nijmegen Medical Center) ; Luan, J. (University of Cambridge School of Clinical Medicine) ; Lyssenko, V. (Lund University Diabetes Centre) ; Lyytikäinen, L.P. (Tampere University Hospital) ; Mahajan, A. (RIKEN Center for Integrative Medical Sciences) ; Mamakou, V. (National and Kapodistrian University of Athens) ; Mangino, M. (Guy's and St Thomas' Foundation Trust) ; Manichaikul, A. (University of Virginia School of Medicine) ; Marten, J. (University of Edinburgh) ; Mattheisen, M. (University Hospital) ; Mavarani, L. (University Hospital Essen) ; McDaid, A.F. (Swiss Institute of Bioinformatics) ; Meidtner, K. (German Center for Diabetes Research) ; Melendez, T.L. (University of Michigan) ; Mercader, J.M. (Massachusetts General Hospital) ; Milaneschi, Y. (Amsterdam UMC and Vrije Universiteit) ; Miller, J.E. (University of Pennsylvania) ; Millwood, I.Y. (University of Oxford) ; Mishra, P.P. (Tampere University) ; Mitchell, R.E. (University of Bristol) ; Møllehave, L.T. (Copenhagen University Hospital) ; Morgan, A. (Burlo Garofolo) ; Mucha, S. (University of Lübeck) ; Munz, M. (University of Lübeck) ; Nakatochi, M. (Nagoya University Graduate School of Medicine) ; Nelson, C.P. (Glenfield Hospital) ; Nethander, M. (University of Gothenburg) ; Nho, C.W. (Gangneung Institute of Natural Products) ; Nielsen, A.A. (Lillebaelt Hospital) ; Nolte, I.M. (University Medical Center Groningen) ; Nongmaithem, S.S. (Wellcome Sanger Institute) ; Noordam, R. (Leiden University Medical Center) ; Ntalla, I. (Queen Mary University of London) ; Nutile, T. (Institute of Genetics and Biophysics A. Buzzati-Traverso) ; Pandit, A. (University of Michigan School of Public Health) ; Christofidou, P. (King's College London) ; Pärna, K. (University Medical Center Groningen) ; Pauper, M. (Radboud University Nijmegen Medical Center) ; Petersen, E.R.B. (Hospital of Southern Jutland) ; Petersen, L.V. (University of Aarhus) ; Pitkänen, N. (University of Turku) ; Polašek, O. (Algebra University College) ; Poveda, A. (Lund University) ; Preuss, M.H. (Icahn School of Medicine at Mount Sinai) ; Pyarajan, S. (VA Boston Healthcare System) ; Raffield, L.M. (University of North Carolina at Chapel Hill) ; Rakugi, H. (Osaka University Graduate School of Medicine) ; Ramirez, J. (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Rasheed, A. (Center for Non-Communicable Diseases) ; Raven, D. (University of Groningen) ; Rayner, N.W. (University of Oxford. Churchill Hospital) ; Riveros, C. (The University of Newcastle) ; Rohde, R. (University of North Carolina at Chapel Hill) ; Ruggiero, D. (IRCCS Neuromed) ; Ruotsalainen, S.E. (University of Helsinki) ; Ryan, K.A. (University of Maryland School of Medicine) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Saxena, R. (Massachusetts General Hospital) ; Scholz, M. (University of Leipzig) ; Sendamarai, A. (VA Boston Healthcare System) ; Shen, B. (National Institutes of Health) ; Shi, J. (23andMe) ; Shin, J.H. (Hallym University) ; Sidore, C. (Consiglio Nazionale delle Ricerche (CNR)) ; Sitlani, C.M. (University of Washington) ; Slieker, R.C. (Amsterdam Cardiovascular Sciences) ; Smit, R.A.J. (Leiden University Medical Center) ; Smith, A.V. (Icelandic Heart Association) ; Smith, J.A. (University of Michigan) ; Smyth, L.J. (Queen's University of Belfast) ; Southam, L. (Wellcome Trust Sanger Institute (Regne Unit)) ; Steinthorsdottir, V. (deCODE Genetics/Amgen) ; Sun, L. (University of Chinese Academy of Sciences) ; Takeuchi, F. (National Center for Global Health and Medicine) ; Tallapragada, D.S.P. (University of Bergen) ; Taylor, K.D. (Harbor-UCLA Medical Center) ; Tayo, B.O. (Loyola University Chicago) ; Tcheandjieu, C. (Stanford University School of Medicine) ; Terzikhan, N. (University Medical Center Rotterdam) ; Tesolin, P. (University of Trieste) ; Teumer, A. (DZHK (German Centre for Cardiovascular Research)) ; Theusch, E. (University of California) ; Thompson, D.J. (University of Cambridge) ; Thorleifsson, G. (deCODE Genetics/Amgen) ; Timmers, P.R.H.J. (Western General Hospital) ; Trompet, S. (Leiden University Medical Center) ; Turman, C. (Chan School of Public Health) ; Vaccargiu, S. (Consiglio Nazionale delle Ricerche) ; van der Laan, S.W. (Utrecht University) ; van der Most, P.J. (University Medical Center Groningen) ; van Klinken, J.B. (University of Amsterdam) ; van Setten, J. (Utrecht University) ; Verma, S.S. (University of Pennsylvania) ; Verweij, N. (University Medical Center Groningen) ; Veturi, Y. (University of Pennsylvania) ; Wang, C.A. (The University of Newcastle) ; Wang, C. (Huazhong University of Science and Technology) ; Wang, L. (Washington University School of Medicine) ; Wang, Z. (Icahn School of Medicine at Mount Sinai) ; Warren, H.R. (Queen Mary University of London) ; Bin Wei, W. (Capital Medical University) ; Wickremasinghe, A.R. (University of Kelaniya) ; Wielscher, M. (Medical University of Vienna) ; Wiggins, K.L. (University of Washington) ; Winsvold, B.S. (Oslo University Hospital) ; Wong, A. (University College London) ; Wu, Y. (The University of Queensland) ; Wuttke, M. (University of Freiburg) ; Xia, R. (University of Texas Health Science Center at Houston) ; Xie, T. (University Medical Center Groningen) ; Yamamoto, K. (Kurume University School of Medicine) ; Yang, J. (Westlake Laboratory of Life Sciences and Biomedicine) ; Yao, J. (Harbor-UCLA Medical Center) ; Young, H. (University of Minnesota) ; Yousri, N.A. (Alexandria University) ; Yu, L. (Rush University Medical Center) ; Zeng, L. (Technical University Munich) ; Zhang, W. (Imperial College London) ; Zhang, X. (University of Pennsylvania) ; Zhao, J.H. (University of Cambridge) ; Zhao, W. (University of Michigan School of Public Health) ; Zhou, W. (Broad Institute of MIT and Harvard) ; Zimmermann, M.E. (University of Regensburg) ; Zoledziewska, M. (Consiglio Nazionale delle Ricerche) ; Adair, L.S. (University of North Carolina at Chapel Hill) ; Adams, H.H.H. (Universidad Adolfo Ibáñez) ; Aguilar-Salinas, C.A. (Escuela de Medicina y Ciencias de la Salud) ; Al-Mulla, F. (Dasman Diabetes Institute) ; Arnett, D.K. (University of Kentucky) ; Asselbergs, F.W. (University College London) ; Åsvold, B.O. (Trondheim University Hospital) ; Attia, J. (University of Newcastle) ; Banas, B. (University Hospital Regensburg) ; Bandinelli, S. (Azienda Toscana Centro) ; Bennett, D.A. (Rush University Medical Center) ; Bergler, T. (University Hospital Regensburg) ; Bharadwaj, D. (Jawaharlal Nehru University) ; Biino, G. (National Research Council of Italy) ; Bisgaard, H. (University of Copenhagen) ; Boerwinkle, E. (University of Texas Health Science Center at Houston) ; Böger, C.A. (KfH Kidney Center Traunstein) ; Bønnelykke, K. (University of Copenhagen) ; Boomsma, D.I. (Vrije Universiteit Amsterdam) ; Børglum, A.D. (Aarhus University) ; Borja, J.B. (University of San Carlos) ; Bouchard, C. (Pennington Biomedical Research Center) ; Bowden, D.W. (Medical Center Boulevard) ; Brandslund, I. (University of Southern Denmark) ; Brumpton, B. (Trondheim University Hospital) ; Buring, J.E. (Brigham and Women's Hospital) ; Caulfield, M.J. (Queen Mary University of London) ; Chambers, J.C. (Imperial College London) ; Chandak, G.R. (JSS (Deemed to be) University) ; Chanock, Stephen J. (National Cancer Institute) ; Chaturvedi, N. (University College London) ; Chen, Y.D.I. (Harbor-UCLA Medical Center) ; Chen, Z. (University of Oxford) ; Cheng, C.Y. (Duke-NUS Medical School) ; Christophersen, I.E. (Vestre Viken Hospital Trust) ; Ciullo, M. (IRCCS Neuromed) ; Cole, J.W. (Baltimore Veterans Affairs Medical Center) ; Collins, F.S. (National Institutes of Health) ; Cooper, R.S. (Loyola University Chicago) ; Cruz, M. (Instituto Mexicano del Seguro Social) ; Cucca, F. (Università degli Studi di Sassari) ; Cupples, L.A. (Framingham Heart Study) ; Cutler, M.J. (Intermountain Medical Center) ; Damrauer, S.M. (Crescenz VA Medical Center) ; Dantoft, T.M. (Copenhagen University Hospital - Bispebjerg and Frederiksberg) ; de Borst, G.J. (University of Utrecht) ; de Groot, L.C.P.G.M. (Department of Human Nutrition. Wageningen University) ; De Jager, P.L. (Columbia University Medical Center) ; de Kleijn, D.P.V. (University of Utrecht) ; Janaka de Silva, H. (University of Kelaniya) ; Dedoussis, G.V. (Harokopio University of Athens) ; den Hollander, A.I. (Radboud University Nijmegen Medical Center) ; Du, S. (University of North Carolina at Chapel Hill) ; Easton, D.F. (Department of Oncology. University of Cambridge) ; Elders, P.J.M. (Amsterdam UMC) ; Eliassen, A.H. (Chan School of Public Health) ; Ellinor, P.T. (Massachusetts General Hospital) ; Elmståhl, S. (Lund University) ; Erdmann, J. (University Heart Center Lübeck) ; Evans, M.K. (National Institutes of Health) ; Fatkin, D. (UNSW Sydney) ; Feenstra, B. (Statens Serum Institut) ; Feitosa, M.F. (Washington University School of Medicine) ; Ferrucci, L. (National Institutes of Health) ; Ford, I. (University of Glasgow) ; Fornage, M. (University of Texas Health Science Center at Houston) ; Franke, A. (Christian-Albrechts University of Kiel) ; Franks, P.W. (Umeå University) ; Freedman, B.I. (Medical Center Boulevard) ; Gasparini, P. (University of Trieste) ; Gieger, C. (German Center for Diabetes Research) ; Girotto, G. (University of Trieste) ; Goddard, M.E. (Precincts and Regions) ; Golightly, Y.M. (University of North Carolina at Chapel Hill) ; Gonzalez-Villalpando, C. (Centro de Estudios en Diabetes) ; Gordon-Larsen, P. (University of North Carolina at Chapel Hill) ; Grallert, H. (German Center for Diabetes Research) ; Grant, S.F.A. (Children's Hospital of Philadelphia) ; Grarup, N. (University of Copenhagen) ; Griffiths, L. (Queensland University of Technology) ; Gudnason, V. (University of Iceland) ; Haiman, C. (Keck School of Medicine of USC) ; Hakonarson, H. (Children's Hospital of Philadelphia) ; Hansen, T. (University of Copenhagen) ; Hartman, C.A. (University Medical Center Groningen) ; Hattersley, A.T. (University of Exeter Medical School) ; Hayward, C. (University of Edinburgh) ; Heckbert, S.R. (University of Washington) ; Heng, C.K. (National University Health System) ; Hengstenberg, C. (Medical University of Vienna) ; Hewitt, A.W. (University of Western Australia) ; Hishigaki, H. (Otsuka Pharmaceutical Co.) ; Hoyng, C.B. (Radboud University Nijmegen Medical Center) ; Huang, P.L. (Massachusetts General Hospital) ; Huang, W. (Shanghai Industrial Technology Institute) ; Hunt, S.C. (University of Utah) ; Hveem, K. (Norwegian University of Science and Technology) ; Hyppönen, E. (South Australian Health and Medical Research Institute) ; Iacono, W.G. (University of Minnesota) ; Ichihara, S. (Jichi Medical University School of Medicine) ; Ikram, M.A. (University Medical Center Rotterdam) ; Isasi, C.R. (Albert Einstein College of Medicine) ; Jackson, R.D. (Ohio State University) ; Jarvelin, M.R. (Brunel University London) ; Jin, Z.B. (Wenzhou Medical University) ; Jöckel, K.H. (University Hospital Essen) ; Joshi, P.K. (University of Edinburgh) ; Jousilahti, P. (Finnish Institute for Health and Welfare) ; Jukema, J.W. (Netherlands Heart Institute) ; Kähönen, M. (Tampere University) ; Kamatani, Y. (The University of Tokyo) ; Kang, K.D. (The Catholic University of Korea Incheon St. Mary's Hospital) ; Kaprio, J. (University of Helsinki) ; Kardia, S.L.R. (University of Michigan School of Public Health) ; Karpe, F. (Churchill Hospital) ; Kato, N. (National Center for Global Health and Medicine) ; Kee, F. (Queen's University of Belfast) ; Kessler, T. (German Centre for Cardiovascular Research) ; Khera, A.V. (Massachusetts General Hospital) ; Khor, C.C. (Genome Institute of Singapore) ; Kiemeney, L.A.L.M. (Radboud University Medical Center) ; Kim, B.J. (National Institute of Health) ; Kim, E.K. (Saevit Eye Hospital) ; Kim, H.L. (Ewha Womans University) ; Kirchhof, P. (Atrial Fibrillation NETwork) ; Kivimaki, M. (University College London) ; Koh, W.P. (National University of Singapore) ; Koistinen, H.A. (Minerva Foundation Institute for Medical Research) ; Kolovou, G.D. (Metropolitan Hospital) ; Kooner, J.S. (Imperial College London) ; Kooperberg, C. (Fred Hutchinson Cancer Research Center) ; Köttgen, A. (University of Freiburg) ; Kovacs, P. (University of Leipzig Medical Center) ; Kraaijeveld, A. (Utrecht University) ; Kraft, P. (Chan School of Public Health) ; Krauss, R.M. (University of California) ; Kumari, M. (University of Essex) ; Kutalik, Z. (Swiss Institute of Bioinformatics) ; Laakso, M. (Kuopio University Hospital) ; Lange, L.A. (University of Colorado at Denver) ; Langenberg, C. (Charité - Universitätsmedizin Berlin) ; Launer, L.J. (National Institutes of Health) ; Le Marchand, L. (University of Hawaii Cancer Center) ; Lee, H. (Ewha Womans University School of Medicine) ; Lee, N.R. (University of San Carlos) ; Lehtimäki, T. (Tampere University) ; Li, H. (University of Chinese Academy of Sciences) ; Li, L. (Peking University Center for Public Health) ; Lieb, W. (Kiel University) ; Lin, X. (University of Chinese Academy of Sciences) ; Lind, L. (Uppsala University) ; Linneberg, A. (University of Copenhagen) ; Liu, C.T. (Boston University School of Public Health) ; Liu, J. (Genome Institute of Singapore) ; Loeffler, M. (University of Leipzig) ; London, B. (University of Iowa Hospitals and Clinics) ; Lubitz, S.A. (Massachusetts General Hospital) ; Lye, S.J. (Sinai Health System) ; Mackey, D.A. (University of Western Australia) ; Mägi, R. (University of Tartu) ; Magnusson, P.K.E. (Karolinska Institutet) ; Marcus, G.M. (University of California) ; Vidal, P.M. (University of Lausanne) ; Martin, N.G. (QIMR Berghofer Medical Research Institute) ; März, W. (Medical University of Graz) ; Matsuda, F. (Kyoto University Graduate School of Medicine) ; McGarrah, R.W. (Duke University School of Medicine) ; McGue, M. (University of Minnesota) ; McKnight, A.J. (Queen's University of Belfast) ; Medland, S.E. (QIMR Berghofer Medical Research Institute) ; Mellström, D. (University of Gothenburg) ; Metspalu, A. (University of Tartu) ; Mitchell, B.D. (Baltimore Veterans Administration Medical Center) ; Mitchell, P. (University of Sydney) ; Mook-Kanamori, D.O. (Leiden University Medical Center) ; Morris, A.D. (University of Edinburgh) ; Mucci, L.A. (Chan School of Public Health) ; Munroe, P.B. (Queen Mary University of London) ; Nalls, M.A. (Data Tecnica International) ; Nazarian, S. (University of Pennsylvania) ; Nelson, A.E. (University of North Carolina at Chapel Hill) ; Neville, M.J. (Churchill Hospital) ; Newton-Cheh, C. (Massachusetts General Hospital) ; Nielsen, C.S. (Oslo University Hospital) ; Nöthen, M.M. (University Hospital Bonn) ; Ohlsson, C. (Sahlgrenska University Hospital) ; Oldehinkel, A.J. (University of Groningen) ; Orozco, L. (Instituto Nacional de Medicina Genómica) ; Pahkala, K. (University of Turku) ; Pajukanta, P. (David Geffen School of Medicine at UCLA) ; Palmer, C.N.A. (University of Dundee) ; Parra, E.J. (University of Toronto at Mississauga) ; Pattaro, C. (University of Lübeck) ; Pedersen, O. (University of Copenhagen) ; Pennell, C.E. (University of Newcastle) ; Penninx, B.W.J.H. (Amsterdam UMC and Vrije Universiteit) ; Perusse, L. (Université Laval) ; Peters, A. (IBE. LMU Munich) ; Peyser, P.A. (University of Michigan School of Public Health) ; Porteous, D.J. (University of Edinburgh) ; Posthuma, D. (Vrije Universiteit Amsterdam) ; Power, C. (UCL Great Ormond Street Hospital Institute of Child Health) ; Pramstaller, P.P. (University of Lübeck) ; Province, M.A. (Washington University School of Medicine) ; Qi, Q. (Albert Einstein College of Medicine) ; Qu, J. (Wenzhou Medical University) ; Rader, D.J. (University of Pennsylvania) ; Raitakari, O.T. (Turku University Hospital) ; Ralhan, S. (Dyanand Medical College) ; Rallidis, L.S. (University General Hospital Attikon) ; Rao, D.C. (Washington University School of Medicine) ; Redline, S. (Brigham and Women's Hospital) ; Reilly, D.F. (Genetics. Merck Sharp & Dohme) ; Reiner, A.P. (University of Washington) ; Rhee, S.Y. (Kyung Hee University School of Medicine) ; Ridker, P.M. (Brigham and Women's Hospital) ; Rienstra, M. (University Medical Center Groningen) ; Ripatti, S. (University of Helsinki) ; Ritchie, M.D. (University of Pennsylvania) ; Roden, D.M. (Vanderbilt University Medical Center) ; Rosendaal, F.R. (Leiden University Medical Center) ; Rotter, J.I. (Harbor-UCLA Medical Center) ; Rudan, I. (University of Edinburgh) ; Rutters, F. (Amsterdam Public Health Institute) ; Sabanayagam, C. (Duke-NUS Medical School) ; Saleheen, D. (Columbia University) ; Salomaa, V. (Finnish Institute for Health and Welfare) ; Samani, N.J. (Glenfield Hospital) ; Sanghera, D.K. (University of Oklahoma Health Sciences Center) ; Sattar, N. (University of Glasgow) ; Schmidt, B. (University Hospital Essen) ; Schmidt, H. (Medical University of Graz) ; Schmidt, R. (Medical University of Graz) ; Schulze, M.B. (University of Potsdam) ; Schunkert, H. (Technische Universität München) ; Scott, L.J. (University of Michigan School of Public Health) ; Scott, R.J. (University of Newcastle) ; Sever, P. (Imperial College London) ; Shiroma, E.J. (National Institutes of Health) ; Shoemaker, M.B. (Vanderbilt University Medical Center) ; Shu, X.O. (Vanderbilt University Medical Center) ; Simonsick, E.M. (National Institutes of Health) ; Sims, M. (University of Mississippi) ; Singh, J.R. (Central University of Punjab) ; Singleton, A. B. (National Institute on Aging) ; Sinner, M.F. (LMU Munich) ; Smith, J.G. (Lund University) ; Snieder, H. (University Medical Center Groningen) ; Spector, T.D. (King's College London) ; Stampfer, M.J. (Chan School of Public Health) ; Stark, K.J. (University of Regensburg) ; Strachan, D.P. (University of London) ; 't Hart, L.M. (Leiden University Medical Center) ; Tabara, Y. (Kyoto University Graduate School of Medicine) ; Tang, H. (Stanford University School of Medicine) ; Tardif, J.C. (Université de Montréal) ; Thanaraj, T.A. (Department of Genetics and Bioinformatics) ; Timpson, N.J. (University of Bristol) ; Tönjes, A. (University of Leipzig Medical Center) ; Tremblay, A. (Université Laval) ; Tuomi, T. (Folkhälsan Research Center) ; Tuomilehto, J. (King Abdulaziz University) ; Tusié-Luna, M.T. (Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán) ; Uitterlinden, A.G. (University Medical Center Rotterdam) ; van Dam, R.M. (The George Washington University) ; van der Harst, P. (University of Groningen) ; Van der Velde, N. (Amsterdam Public Health) ; van Duijn, C.M. (University Medical Center Rotterdam) ; van Schoor, N.M. (Amsterdam UMC) ; Vitart, V. (University of Edinburgh) ; Völker, U. (University Medicine Greifswald) ; Vollenweider, P. (University of Lausanne) ; Völzke, H. (DZHK (German Centre for Cardiovascular Research)) ; Wacher-Rodarte, N.H. (Centro Médico Nacional Siglo XXI) ; Walker, M. (Newcastle University) ; Wang, Y.X. (Capital Medical University) ; Wareham, N.J. (University of Cambridge School of Clinical Medicine) ; Watanabe, R.M. (Keck School of Medicine of USC) ; Watkins, Hugh (University of Oxford) ; Weir, D.R. (University of Michigan) ; Werge, T.M. (University of Copenhagen) ; Widen, E. (University of Helsinki) ; Wilkens, Lynne R. (University of Hawaii Cancer Center) ; Willemsen, Gonneke (Vrije Universiteit Amsterdam) ; Willett, Walter C. (Chan School of Public Health) ; Wilson, James F. (Western General Hospital) ; Wong, Tien-Yin (Duke-NUS Medical School) ; Woo, Jeong-Taek (Kyung Hee University School of Medicine) ; Wright, Alan F. (University of Edinburgh) ; Wu, Jer-Yuarn (China Medical University) ; Xu, Huichun (University of Maryland School of Medicine) ; Yajnik, Chittaranjan S. (King Edward Memorial Hospital and Research Centre) ; Yokota, Mitsuhiro (Kurume University School of Medicine (Kurume, Japó)) ; Yuan, Jian-Min (University of Pittsburgh) ; Zeggini, Eleftheria (Technical University of Munich) ; Zemel, Babette S. (University of Pennsylvania) ; Zheng, Wei (Vanderbilt University Medical Center) ; Zhu, Xiaofeng (Case Western Reserve University) ; Zmuda, Joseph M. (University of Pittsburgh) ; Zonderman, Alan B. (National Institutes of Health) ; Zwart, John-Anker (University of Oslo) ; Croteau-Chonka, Damien (Brigham and Women's Hospital) ; Vonk, Judith M. (University Medical Center Groningen) ; Le Marchand, Loic (University of Hawaii Cancer Center) ; Chasman, Daniel I. (Brigham and Women's Hospital) ; Cho, Yoon Shin (Hallym University (Chuncheon, Corea del Sud)) ; Heid, Iris M. (University of Regensburg) ; McCarthy, Mark I. (Genentech (South San Francisco, Estats Units)) ; Ng, Maggie C. Y. (Vanderbilt University Medical Center) ; O'Donnell, Christopher J. (Veterans Affairs Boston Healthcare System) ; Rivadeneira, Fernando (Erasmus Medical Center Rotterdam) ; Thorsteinsdottir, Unnur (University of Iceland) ; Sun, Yan V. (Atlanta VA Health Care System) ; Tai, E. Shyong (National University Health System (Singapur)) ; Boehnke, Michael (University of Michigan School of Public Health) ; Deloukas, Panos (King Abdulaziz University (Jeddah, Aràbia Saudita)) ; Justice, Anne E. (Department of Population Health Sciences Geisinger (Danville, Estats Units)) ; Lindgren, Cecilia M. (University of Oxford) ; Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai (New York, Estats Units)) ; Mohlke, Karen L. (University of North Carolina at Chapel Hill) ; North, Kari E. (University of North Carolina at Chapel Hill) ; Stefansson, Kari (University of Iceland) ; Walters, Robin G. (University of Oxford (Oxford, Regne Unit))) ; Winkler, Thomas W. (University of Regensburg (Regensburg, Alemanya)) ; Young, Kristin L. (University of North Carolina at Chapel Hill) ; Loh, Po-Ru (Harvard Medical School (Boston, Estats Units)) ; Yang, Jian (Westlake Laboratory of Life Sciences and Biomedicine (Hangzhou, Xina)) ; Esko, Tõnu (University of Tartu) ; Assimes, Themistocles (Stanford University School of Medicine) ; Auton, Adam (23andMe (Sunnyvale, Estats Units)) ; Abecasis, Goncalo R. (University of Michigan School of Public Health) ; Willer, Cristen J. (University of Michigan) ; Locke, Adam E. (Washington University School of Medicine) ; Berndt, Sonja I. (National Cancer Institute (Rocville, Estats Units)) ; Lettre, Guillaume (Université de Montréal) ; Frayling, Timothy M. (University of Exeter (Devon, Anglaterra)) ; Okada, Yukinori (The University of Tokyo) ; Wood, Andrew R. (University of Exeter) ; Visscher, PM. (University of Queensland) ; Hirschhorn, Joel N. (Harvard Medical School (Boston, Estats Units)) ; Universitat Autònoma de Barcelona
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. [...]
2022 - 10.1038/s41586-022-05275-y
Nature, Vol. 610 Núm. 7933 (27 2022) , p. 704-712  
2.
16 p, 1.8 MB Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information / Guelfi, Sebastian (University College London (UCL) Institute of Neurology) ; D'Sa, Karishma (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Botía, Juan A. (Universidad de Murcia) ; Vandrovcova, Jana (University College London (UCL) Institute of Neurology) ; Reynolds, Regina H. (University College London (UCL) Institute of Neurology) ; Zhang, David (University College London (UCL) Institute of Neurology) ; Trabzuni, Daniah (King Faisal Specialist Hospital and Research Centre) ; Collado-Torres, Leonardo (Lieber Institute for Brain Development) ; Thomason, Andrew (University of London) ; Quijada Leyton, Pedro (University of London) ; Gagliano Taliun, Sarah A. (University of Michigan) ; Nalls, Mike A. (Data Tecnica International) ; Noyce, Alastair J. (Wolfson Institute of Preventive Medicine) ; Nicolas, Aaude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R. (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J. Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, Xylena (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, Hampton L (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (Wolfson Institute of Preventive Medicine) ; Faghri, Faraz (University of Illinois at Urbana-Champaign) ; Bras, Jose (King's College London) ; Guerreiro, Rita (University College London) ; Tucci, Arianna (University College London) ; Kia, Demis A. (University College London) ; Houlden, Henry (University College London) ; Plun-Favreau, Helene (University College London) ; Mok, Kin Ying (University College London) ; Wood, Nicholas W. (University College London) ; Lovering, Ruth Caroline (University College London) ; R'Bibo, Lea (University College London) ; Rizig, Mie (University College London) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Tan, Manuela (Singapore Institute for Clinical Sciences) ; Morris, Huw (University College London) ; Middlehurst, Ben (Institute of Translational Medicine) ; Quinn, John (Institute of Translational Medicine) ; Billingsley, Kimberley (Institute of Translational Medicine) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, Kerri J. (University College London) ; Lewis, Patrick (University of Reading) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Williams, Nigel (MRC Cardiff University School of Medicine) ; Foltynie, Thomas (UCL Institute of Neurology (Regne Unit)) ; Brice, Alexis (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, Fabrice (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, Suzanne (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Corvol, Jean-Christophe (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, Maria M. (Paul Sabatier University) ; Giri, Anamika (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, Claudia (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, Manu (University of Tubingen) ; Shulman, Joshua M. (Texas Children's Hospital) ; Robak, Laurie (Baylor College of Medicine) ; Lubbe, Steven (Northwestern University Feinberg School of Medicine) ; Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, Codrin (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Scholz, Sonja (National Institute of Neurological Disorders and Stroke) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohan, Lynne (Leiden University Medical Center) ; van Hilten, Jacobus J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Marinus, Johan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Adarmes-Gómez, A.D (Hospital Universitari MútuaTerrassa) ; Bernal-Bernal, Inmaculada (Hospital Universitari MútuaTerrassa) ; Bonilla-Toribio, Marta (Hospital Universitari MútuaTerrassa) ; Buiza-Rueda, Dolores (Hospital Universitari MútuaTerrassa) ; Carrillo, Fátima (Hospital Universitari MútuaTerrassa) ; Carrión-Claro, M (Hospital Universitari MútuaTerrassa) ; Mir, Pablo (Hospital Universitari MútuaTerrassa) ; Gómez-Garre, Pilar (Hospital Universitari MútuaTerrassa) ; Jesús, Silvia (Hospital Universitari MútuaTerrassa) ; Labrador-Espinosa, Miguel A. (Hospital Universitari MútuaTerrassa) ; Macias, Daniel (Hospital Universitari MútuaTerrassa) ; Vargas-González, Laura (Hospital Universitari MútuaTerrassa) ; Méndez-del-Barrio, Carlota (Hospital Universitari MútuaTerrassa) ; Periñán, Teresa (Hospital Universitari MútuaTerrassa) ; Tejera-Parrado, Cristina (Hospital Universitari MútuaTerrassa) ; Diez-Fairen, Monica (Hospital Universitario Central de Asturias) ; Aguilar, Miquel (Hospital Universitario Central de Asturias) ; Alvarez, Ignacio (Hospital Universitario Central de Asturias) ; Boungiorno, María Teresa (Hospital Universitario Central de Asturias) ; Carcel, Maria (Hospital Universitario Central de Asturias) ; Pastor, Pau (Hospital Universitario Central de Asturias) ; Tartari, Juan Pablo (Hospital Universitario Central de Asturias) ; Alvarez, Victoria (Hospital Universitario Parque Tecnologico de la Salud) ; Mendez-Gonzalez, Manuel (Hospital Universitario Parque Tecnologico de la Salud) ; Blazquez, Marta (Hospital Universitario Parque Tecnologico de la Salud) ; Garcia, Ciara (Hospital Universitario Parque Tecnologico de la Salud) ; Suarez-Sanmartin, Esther (Hospital Universitario Parque Tecnologico de la Salud) ; Barrero, Francisco Javier (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Mondragon Rezola, Elisabet (Hospital General de Segovia) ; Bergareche Yarza, Jesús Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Pagola, Ana Gorostidi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; de Munain Arregui, Adolfo Lopez (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Ruiz-Martínez, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Cerdan, Debora (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, Jacinto (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Infante, Jon (Instituto de Investigación Sanitaria de Granada) ; Marín, Juan (Hospital Clínic i Provincial de Barcelona) ; Kulisevsky, Jaime (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Clínic i Provincial de Barcelona) ; Gonzalez-Aramburu, Isabel (Universidad de Granada) ; Sanchez Rodriguez, Antonio (Universidad de Granada) ; Sierra, Maria (Universidad de Granada) ; Duran, Raquel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Ruz, Clara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Vives, Francisco (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Escamilla Sevilla, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Mínguez-Castellanos, Adolfo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Cámara, Ana (Institut de Recerca Sant Joan de Déu) ; Compta, Yaroslau (Institut de Recerca Sant Joan de Déu) ; Ezquerra, Mario (Institut de Recerca Sant Joan de Déu) ; Marti, Maria Jose (Institut de Recerca Sant Joan de Déu) ; Fernández, Manel (Institut de Recerca Sant Joan de Déu) ; Muñoz, Esteban (Institut de Recerca Sant Joan de Déu) ; Fernández-Santiago, Rubén (Institut de Recerca Sant Joan de Déu) ; Tolosa, Eduard (Institut de Recerca Sant Joan de Déu) ; Valldeoriola, Francesc (Institut de Recerca Sant Joan de Déu) ; García-Ruiz, Pedro (Hospital Universitario Ramón y Cajal (Madrid)) ; Gómez-Heredia, Maria José (Hospital Universitari i Politècnic La Fe de Valencia) ; Perez Errazquin, Francisco (Hospital Universitari i Politècnic La Fe de Valencia) ; Hoenicka, Janet (Hospital General de Segovia) ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Martínez-Castrillo, Juan Carlos (Hospital General de Segovia) ; Lopez-Sendon, Jose Luis (Hospital General de Segovia) ; Martinez Torres, Irene (Hospital Universitario Fundación Alcorcón) ; Tabernero, Cesar (Hospital Universitario Fundación Alcorcón) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Perron Institute for Neurological and Translational Science) ; Taba, Pille (University of Tartu) ; Majamaa, Kari (Oulu University Hospital (Finlàndia)) ; Siitonen, Ari (Oulu University Hospital (Finlàndia)) ; Okubadejo, Njideka (University of Lago) ; Ojo, Oluwadamilola (University of Lago) ; Forabosco, Paola (Cittadella Universitaria di Cagliari) ; Walker, Robert (University of Edinburgh) ; Small, Kerrin (King's College London) ; Smith, Colin (University of Edinburgh) ; Ramasamy, Adaikalavan (Brenner Centre for Molecular Medicine) ; Hardy, John (University College London (UCL) Institute of Neurology) ; Weale, Michael (Genomics plc) ; Ryten, Mina (University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. [...]
2020 - 10.1038/s41467-020-14483-x
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 1041  
3.
12 p, 1.2 MB Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis / Gao, Yixin (Xuzhou Medical University) ; Wang, Ting (Xuzhou Medical University) ; Yu, Xinghao (Xuzhou Medical University) ; Ferrari, Raffaele (Russell Square House) ; Hernandez, Dena G. (Queen Square) ; Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, Jonathan D. (Queen Square) ; Ramasamy, Adaikalavan (University of Oxford) ; Kwok, John B.J. (University of New South Wales) ; Dobson-Stone, Carol (University of New South Wales) ; Brooks, William S. (University of New South Wales) ; Schofield, Peter R. (Neuroscience Research Australia) ; Halliday, Glenda M. (Neuroscience Research Australia) ; Hodges, John R. (Neuroscience Research Australia) ; Piguet, Olivier (Neuroscience Research Australia) ; Bartley, Lauren (Neuroscience Research Australia) ; Thompson, Elizabeth (University of Adelaide) ; Haan, Eric (University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ; Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ; Boada, Mercè (Institut Català de Neurociéncies Aplicades) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Cruchaga, Carlos (Washington University School of Medicine) ; Cairns, Nigel J. (Washington University) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ; Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ; Scarpini, Elio (University of Milan) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Waldö, Maria Landqvist (Lund University) ; Nilsson, Karin (Lund University) ; Nilsson, Christer (Lund University) ; Mackenzie, Ian R.A. (University of British Columbia) ; Hsiung, Ging-Yuek R. (University of British Columbia) ; Mann, David M. A. (Salford Royal Hospital) ; Grafman, Jordan (Northwestern University) ; Morris, Christopher M. (Newcastle University) ; Attems, Johannes (Newcastle University) ; Griffiths, Timothy D. (Newcastle University Medical School) ; McKeith, Ian G. (Newcastle University) ; Thomas, Alan J. (Newcastle University) ; Pietrini, Pietro (IMT School for Advanced Studies) ; Huey, Edward D. (Columbia University) ; Wassermann, Eric M. (National Insititutes of Health) ; Baborie, Atik (University of Alberta Edmonton) ; Jaros, Evelyn (Newcastle University) ; Tierney, Michael C. (National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, Cristina (Universidad de Navarra) ; Ortega-Cubero, Sara (Universidad de Navarra) ; Alonso, Elena (Universidad de Navarra) ; Perneczky, Robert (West London Mental Health Trust) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Kurz, Alexander (Technische Universität München) ; Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ; Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ; Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (University of Toronto) ; St George Hyslop, Peter (University of Cambridge) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, Johannes C. M. (University of California San Diego) ; Uphill, James (University College London. Institute of Neurology) ; Collinge, John (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Neurology) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ; Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ; Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ; van der Zee, Julie (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225) ; Hannequin, Didier (Rouen University Hospital (França)) ; Golfier, Véronique (CH Saint Brieuc) ; Vercelletto, Martine (CHU Nantes) ; Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ; Bagnoli, Silvia (University of Florence) ; Piaceri, Irene (University of Florence) ; Nielsen, Jørgen E. (Copenhagen University Hospital) ; Hjermind, Lena E. (University of Copenhagen) ; Riemenschneider, Matthias (Saarland University) ; Mayhaus, Manuel (Saarland University) ; Ibach, Bernd (University Regensburg) ; Gasparoni, Gilles (Saarland University) ; Pichler, Sabrina (Saarland University) ; Gu, Wei (University of Luxembourg) ; Rossor, Martin N. (Queen Square) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Warren, Jason D. (Queen Square) ; Spillantini, Maria Grazia (University of Cambridge) ; Morris, Huw R. (Russell Square House) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ; Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ; Snowden, Julie S. (University of Manchester) ; Rollinson, Sara (University of Manchester) ; Richardson, Anna (University of Manchester) ; Gerhard, Alexander (The University of Manchester) ; Bruni, Amalia C. (ASPCZ) ; Maletta, Raffaele (ASPCZ) ; Frangipane, Francesca (ASPCZ) ; Cupidi, Chiara (ASPCZ) ; Bernardi, Livia (ASPCZ) ; Anfossi, Maria (ASPCZ) ; Gallo, Maura (ASPCZ) ; Conidi, Maria Elena (ASPCZ) ; Smirne, Nicoletta (ASPCZ) ; Rademakers, Rosa (Mayo Clinic Jacksonville) ; Baker, Matt (Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Mayo Clinic Jacksonville) ; Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ; Petersen, Ronald C. (Mayo Clinic Rochester) ; Knopman, David (Mayo Clinic Rochester) ; Josephs, Keith A. (Mayo Clinic Rochester) ; Boeve, Bradley (Mayo Clinic Rochester) ; Parisi, Joseph E. (Mayo Clinic Rochester) ; Seeley, William W. (University of California) ; Miller, Bruce L. (University of California) ; Karydas, Anna M. (University of California) ; Rosen, Howard (University of California) ; van Swieten, John C. (VU University Medical Centre) ; Dopper, Elise G. P. (Erasmus Medical Centre) ; Seelaar, Harro (Erasmus Medical Centre) ; Pijnenburg, Yolande A. L. (VU University Medical Centre) ; Scheltens, Philip (VU University Medical Centre) ; Logroscino, Giancarlo (University of Bari) ; Capozzo, Rosa (University of Bari) ; Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ; Puca, Annibale A. (University of Salerno) ; Franceschi, Massimo (IRCCS Multimedica) ; Postiglione, Alfredo (University of Naples Federico II) ; Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Kristiansen, Mark (Institute of Child Health (ICH)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Pasquier, Florence (Univ Lille) ; Rollin, Adeline (Univ Lille) ; Deramecourt, Vincent (Univ Lille) ; Lebouvier, Thibaud (Univ Lille) ; Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ; Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (University of Manchester) ; Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hardy, John (Russell Square House) ; Momeni, Parastoo (Texas Tech University Health Science Center) ; Zhao, Huashuo (Xuzhou Medical University) ; Zeng, Ping (Xuzhou Medical University) ; Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184  
4.
13 p, 2.4 MB Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage / Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ; Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ; Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ; Quinn, John (Institute of Translational Medicine. University of Liverpool) ; Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ; Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ; Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Lewis, Patrick (University of Reading) ; Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ; Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ; R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manzoni, Claudia (University of Reading) ; Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Williams, Nigel (Cardiff University School of Medicine) ; Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ; Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ; Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ; Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ; Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ; Schulte, Claudia (German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ; Heutink, Peter (German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ; Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, Thomas (German Center for Neurodegenerative Diseases) ; Nicolas, Aude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ; Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ; Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ; Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ; Nalls, Mike A. (Data Tecnica International) ; Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ; Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ; Scholz, Sonja (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ; Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohn, Lynne (McGill University) ; van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ; Marinus, Johan (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ; Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ; Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ; Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Duarte, Jacinto (Hospital General de Segovia) ; Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, Ciara (Hospital Universitario Central de Asturias) ; García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ; Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ; Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ; Jesús, Silvia (Instituto de Biomedicina de Sevilla) ; Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ; Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ; López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Macias, Daniel (Instituto de Biomedicina de Sevilla) ; Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ; Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ; Menéndez González, Manuel (Hospital Universitario Central de Asturias) ; Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ; Mir, Pablo (Instituto de Biomedicina de Sevilla) ; Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ; Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ; Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ; Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ; Tabernero, Cesar (Hospital General de Segovia) ; Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ; Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ; Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ; Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ; Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ; Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ; Gagliano Taliun, Sarah A. (Montréal Heart Institute) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ; Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 - 10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076  
5.
18 p, 6.7 MB Identification of sixteen novel candidate genes for late onset Parkinson's disease / Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ; Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ; Noyce, Alastair J. ; Kaiyrzhanov, Rauan ; Middlehurst, Ben ; Kia, Demis A. ; Tan, Manuela ; Houlden, Henry ; Morris, Huw R. ; Plun-Favreau, Helen ; Holmans, Peter ; Hardy, John ; Trabzuni, Daniah ; Quinn, John ; Bubb, Vivien ; Mok, Kin Y. ; Kinghorn, Kerri J. ; Billingsley, Kimberley ; Wood, Nicholas W.. ; Lewis, Patrick ; Schreglmann, Sebastian ; Lovering, Rruth ; R'Bibo, Lea ; Manzoni, Claudia ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott-Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Morrison, Karen E. ; Clarke, Carl ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Corvol, Jean-Christophe ; Martinez Rande, Maria (INSERM UMR 1220) ; Schulte, Claudia ; Brockmann, Kathrin ; Simón-Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Cookson, Mark R. ; Bandres-Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W. ; Narendra, Derek ; Faghri, Faraz ; Gibbs, J.Raphael ; Hernandez, Dena G. ; Van Keuren-Jensen, Kendall ; Shulman, Joshua M. ; Iwaki, Hirotaka ; Leonard, Hampton L. ; Nalls, Mike A. ; Robak, Laurie ; Bras, Jose ; Guerreiro, Rita ; Lubbe, Steven ; Finkbeiner, Steven ; Mencacci, Niccolo E. ; Lungu, Codrin ; Singleton, Andrew B. ; Scholz, Sonja ; Reed, Xylena ; Alcalay, Roy N. ; Gan-Or, Zin ; Rouleau, Guy A. ; Krohn, Lynne ; van Hilten, Jacobus J. ; Marinus, Johan ; Adarmes-Gómez, A.D ; Aguilar Barberà, Miquel ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria ; Barrero, Francisco Javier ; Bergareche Yarza, Jesús Alberto ; Bernal-Bernal, Inmaculada ; Blázquez Estrada, Marta ; Bonilla-Toribio, Marta ; Botía, Juan A. ; Boungiorno, María Teresa ; Buiza-Rueda, Dolores ; Carrillo, Fátima ; Carrión-Claro, M ; Cerdan, Debora ; Clarimón, Jordi ; Compta, Yaroslau ; Diez-Fairen, Monica ; Dols Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla Sevilla, Francisco ; Ezquerra, Mario ; Feliz, Cici ; Fernández, Manel ; Fernández-Santiago, Rubén ; Garcia, Ciara ; García-Ruiz, Pedro ; Gómez-Garre, Pilar ; Gomez Heredia, Maria Jose ; Gonzalez-Aramburu, Isabel ; Gorostidi Pagola, Ana ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A. ; Lopez-Sendon, Jose Luis ; López de Munain Arregui, Adolfo ; Macias, Daniel ; Martínez Torres, Irene ; Marín, Juan ; Marti, Maria Jose ; Martínez-Castrillo, Juan Carlos ; Méndez-del-Barrio, Carlota ; Menéndez González, Manuel ; Mata, Marina ; Mínguez, Adolfo ; Mir, Pablo ; Mondragon Rezola, Elisabet ; Muñoz, Esteban ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Ruiz-Martínez, Javier ; Ruz, Clara ; Sanchez Rodriguez, Antonio ; Sierra, María ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tejera-Parrado, Cristina ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vargas-González, Laura ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Pihlstrom, Lasse ; Toft, Mathias ; Koks, Sulev ; Taba, Pille ; Hassin-Baer, Sharon ; Majamaa, Kari ; Siitonen, Ari ; Okubadejo, Njideka U. ; Ojo, Oluwadamilola O. ; Kaiyrzhanov, Rauan ; Shashkin, Chingiz ; Zharkynbekova, Nazira ; Akhmetzhanov, Vadim ; Aitkulova, Akbota ; Zholdybayeva, Elena ; Zharmukhanov, Zharkyn ; Kaishybayeva, Gulnaz ; Karimova, Altynay ; Sadykova, Dinara ; Iacoviello, Licia (University of Insubria (Itàlia)) ; Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ; Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 - 10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35  
6.
14 p, 1.2 MB Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome / Storm, Catherine S. (University College London) ; Kia, Demis A. (University College London) ; Almramhi, Mona M. (King Abdulaziz University) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Finan, Chris (University Medical Center Utrecht) ; Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ; Middlehurst, B. (University of Liverpool) ; Tan, M. (University College London) ; Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ; Morris, H. R. (University College London) ; Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit)) ; Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ; Quinn, J. (Institute of Translational Medicine. University of Liverpool) ; Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ; Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ; Kinghorn, K. J. (University College London) ; Lewis, P. (University of Reading) ; Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ; Lovering, R. (University College London) ; R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ; Manzoni, C. (University of Reading) ; Rizig, M. (UCL Institute of Neurology (Regne Unit)) ; Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ; Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ; Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ; Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ; Morrison, K. E. (Faculty of Medicine. University of Southampton) ; Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ; Harvey, K. (UCL School of Pharmacy) ; Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ; Brice, Alexis (Sorbonne Université) ; Danjou, Fabrice (Sorbonne Université) ; Lesage, S. (Sorbonne Universités) ; Corvol, Jean-Christophe (Sorbonne Universités) ; Martinez, M. (Paul Sabatier University) ; Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (University of Tübingen) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (University of Tubingen) ; Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ; Schneider, S. A. (udwig-Maximilians-University Munich) ; Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ; Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ; Craig, David W (University of Southern California) ; Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ; Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ; Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ; Faghri, F. (University of Illinois at Urbana-Champaign) ; Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ; Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ; Shulman, J. M. (Texas Children's Hospital) ; Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ; Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ; Nalls, M. A. (CEO/Consultant Data Tecnica International) ; Robak, L. (Baylor College of Medicine) ; Bras, Jose (Van Andel Research Institute) ; Guerreiro, Rita (Van Andel Research Institute) ; Lubbe, S. (Northwestern University Feinberg School of Medicine) ; Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ; Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ; Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ; Uitti, R. J. (Mayo Clinic) ; Ross, O. A. (Mayo Clinic) ; Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ; Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ; Alcalay, Roy N (Columbia University Medical Center) ; Wszolek, Z. K. (Mayo Clinic) ; Gan-Or, Z. (McGill University) ; Rouleau, G. A. (McGill University) ; Krohn, L. (McGill University) ; Mufti, K. (McGill University) ; van Hilten, J. J. (Leiden University Medical Center) ; Marinus, J. (Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguilar Barberà, Miquel (Mútua de Terrassa) ; Alvarez, Ignacio (Mútua de Terrassa) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Barrero, F. J. (Universidad de Granada) ; Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Botía, J. A. (Universidad de Murcia) ; Boungiorno, M. T. (Mútua de Terrassa) ; Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, M. (Mútua de Terrassa) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Duarte, Jacinto (Hospital General de Segovia) ; Duran, Raquel (Universidad de Granada) ; Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, C.. (Hospital Universitario Central de Asturias) ; García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ; Infante, Jon (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ; de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ; Marín, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; González, M. M. (Hospital Universitario Central de Asturias) ; Mata, Marina (Hospital Universitario Virgen de las Nieves (Granada)) ; Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz, Esteban (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Perez-Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Ruz, Clara (Universidad de Granada) ; Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, Maria (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ; Tabernero, Cesar (Hospital General de Segovia) ; Tartari, J. P. (Mútua de Terrassa) ; Tejera-Parrado, C. (v) ; Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, Francisco (Universidad de Granada) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, L. (Oslo University Hospital (Oslo)) ; Toft, M. (Oslo University Hospital (Oslo, Noruega)) ; Taba, P. (University of Tartu) ; Koks, S. (The Perron Institute for Neurological and Translational Science) ; Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ; Majamaa, K. (Oulu University Hospital (Finlàndia)) ; Siitonen, A. (Oulu University Hospital (Finlàndia)) ; Tienari, P. (Helsinki University Hospital (Finlàndia)) ; Okubadejo, N. U. (University of Lagos) ; Ojo, O. O. (University of Lagos) ; Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ; Zharkinbekova, N. (South Kazakhstan Medical Academy) ; Akhmetzhanov, Vadim (Astana Medical University) ; Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ; Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ; Khaibullin, T. (Semey Medical University) ; Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ; Hingorani, Aroon (Health Data Research UK) ; Wood, Nicholas W.. (University College London) ; Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342  
7.
1 p, 709.1 KB Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology / van Rheenen, Wouter (Utrecht University) ; van der Spek, Rick A. A. (Utrecht University) ; Bakker, Mark K. (Utrecht University) ; van Vugt, Joke J. F. A. (Utrecht University) ; Hop, Paul J. (Utrecht University) ; Zwamborn, Ramona A. J. (Utrecht University) ; de Klein, Niek (University Medical Centre Groningen) ; Westra, Harm-Jan (University Medical Centre Groningen) ; Bakker, Olivier B. (University Medical Centre Groningen) ; Deelen, Patrick (Utrecht University) ; Shireby, Gemma (University of Exeter) ; Hannon, Eilis (University of Exeter) ; Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ; Baird, Denis (University of Bristol) ; Restuadi, Restuadi (University of Queensland) ; Dolzhenko, Egor (Illumina) ; Dekker, Annelot M. (Utrecht University) ; Gawor, Klara (Utrecht University) ; Westeneng, Henk-Jan (Utrecht University) ; Tazelaar, Gijs H. P. (Utrecht University) ; van Eijk, Kristel R. (Utrecht University) ; Kooyman, Maarten (Utrecht University) ; Byrne, Ross P. (Trinity College Dublin) ; Doherty, Mark (Trinity College Dublin) ; Heverin, Mark (Trinity College Dublin) ; Al Khleifat, Ahmad (King's College LondonNeuroscience Institute) ; Iacoangeli, Alfredo (King's College London) ; Shatunov, Aleksey (King's College London) ; Ticozzi, Nicola (Università degli Studi di Milano) ; Cooper-Knock, Johnathan (University of Sheffield) ; Smith, Bradley N. (King's College London) ; Gromicho, Marta (Universidade de Lisboa) ; Chandran, Siddharthan (University of Edinburgh. UK Dementia Research Institute) ; Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ; Morrison, Karen E. (Queen's University Belfast) ; Shaw, Pamela J. (University of Sheffield) ; Hardy, John (University College London) ; Orrell, Richard W. (University College London) ; Sendtner, Michael (University Hospital Würzburg) ; Meyer, Thomas (Humboldt University) ; Başak, Nazli (Koç University, School of Medicine, KUTTAM-NDAL) ; van der Kooi, Anneke J. (Academic Medical Center) ; Ratti, Antonia (Università degli Studi di Milano) ; Fogh, Isabella (King's College London) ; Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ; Lauria, Giuseppe (University of Milan) ; Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ; Cereda, Cristina (IRCCS Mondino Foundation) ; Sproviero, Daisy (IRCCS Mondino Foundation) ; D'Alfonso, Sandra (University of Eastern Piedmont) ; Sorarù, Gianni (University of Padova) ; Siciliano, Gabriele (University of Pisa) ; Filosto, Massimiliano (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Brunetti, Maura (University of Torino) ; Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Grassano, Maurizio (University of Torino) ; Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G. Panico' Hospital. Department of Clinical Research in Neurology) ; Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ; Osmanovic, Alma (University Hospital Essen (Alemanya)) ; Nordin, Angelica (Umeå University) ; Lerner, Yossef (Hadassah Medical Center) ; Zabari, Michal (Hadassah Medical Center) ; Gotkine, Marc (Hadassah Medical Center) ; Baloh, Robert H. (Cedars-Sinai Medical Center) ; Bell, Shaughn (Cedars-Sinai Medical Center) ; Vourc'h, Patrick (UMR 1253, Université de Tours) ; Corcia, Philippe (CHU de Tours. Centre de référence sur la SLA) ; Couratier, Philippe (Université de Limoges) ; Millecamps, Stéphanie (Sorbonne Université) ; Meininger, Vincent (Hôpital des Peupliers) ; Salachas, François (Hôpital de la Pitié-Salpêtrière) ; Mora Pardina, Jesus S. (ALS Unit, Hospital San Rafael, Madrid) ; Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Dion, Patrick A. (McGill University) ; Ross, Jay P. (McGill University) ; Ludolph, Albert C. (Ulm University) ; Weishaupt, Jochen H. (Heidelberg University) ; Brenner, David (Heidelberg University) ; Freischmidt, Axel (German Center for Neurodegenerative Diseases) ; Bensimon, Gilbert (CHU-Nîmes) ; Brice, Alexis (Sorbonne Université) ; Durr, Alexandra (Sorbonne Université) ; Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ; Saker-Delye, Safa (Genethon, CNRS UMR) ; Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ; Topp, Simon (King's College London.) ; Rademakers, Rosa (Mayo Clinic College of Medicine) ; Tittmann, Lukas (Christian Albrechts-University Kiel) ; Lieb, Wolfgang (Christian Albrechts-University Kiel) ; Franke, Andre (Kiel University) ; Ripke, Stephan (Charité - Universitätsmedizin Berlin) ; Braun, Alice (Charité - Universitätsmedizin Berlin) ; Kraft, Julia (Charité - Universitätsmedizin Berlin) ; Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ; Hofman, Albert (Erasmus Medical Center Rotterdam. Department of Epidemiology) ; Rietschel, Marcella (Central Institute of Mental Health) ; Cichon, Sven (Institute of Neuroscience and Medicine INM-1) ; Nöthen, Markus M. (Life and Brain Center. Department of Genomics) ; Amouyel, Philippe (University of Lille) ; Traynor, Bryan J. (Johns Hopkins University) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Mitne Neto, Miguel (Universidade de São Paulo) ; Cauchi, Ruben J. (University of Malta) ; Ophoff, Roel A. (University of California) ; Wiedau-Pazos, Martina (University of California) ; Lomen-Hoerth, Catherine (University of California. Department of Neurology) ; Van Deerlin, Vivianna (University of Pennsylvania) ; Grosskreutz, Julian (University of Luebeck) ; Roediger, Annekathrin (Jena University Hospital (Alemanya)) ; Gaur, Nayana (Jena University Hospital (Alemanya)) ; Jörk, Alexander (Jena University Hospital (Alemanya)) ; Barthel, Tabea (Jena University Hospital (Alemanya)) ; Theele, Erik (Jena University Hospital (Alemanya)) ; Ilse, Benjamin (Jena University Hospital (Alemanya)) ; Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ; Witte, Otto W. (Jena University Hospital (Alemanya)) ; Steinbach, Robert (Jena University Hospital (Alemanya)) ; Hübner, Christian A. (Jena University Hospital (Alemanya)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences. Department of Functional Biochemistry of the Nervous System) ; Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Demeshonok, Vera (Medical Clinic of the St. Petersburg) ; Ataulina, Anastasia (Bujanov Moscow Clinical Hospital, Moscow, Russia) ; Rogelj, Boris (University of Ljubljana) ; Koritnik, Blaž (University Medical Centre Ljubljana) ; Zidar, Janez (University Medical Centre Ljubljana) ; Ravnik-Glavač, Metka (University of Ljubljana) ; Glavač, Damjan (University of Ljubljana) ; Stević, Zorica (University of Belgrade) ; Drory, Vivian (Tel Aviv University) ; Povedano, Monica (Hospital Universitari de Bellvitge) ; Blair, Ian P. (Macquarie University) ; Kiernan, Matthew C. (University of Sydney) ; Benyamin, Beben (University of South Australia) ; Henderson, Robert D. (Royal Brisbane and Women's Hospital) ; Furlong, Sarah (Macquarie University) ; Mathers, Susan (Calvary Health Care Bethlehem) ; McCombe, Pamela A. (University of Queensland) ; Needham, Merrilee (Murdoch University) ; Ngo, Shyuan T. (University of Queensland) ; Nicholson, Garth A. (Concord Repatriation General Hospital) ; Pamphlett, Roger (University of Sydney) ; Rowe, Dominic B. (Macquarie University) ; Steyn, Frederik J. (University of Queensland) ; Williams, Kelly (Macquarie University) ; Mather, Karen A. (Neuroscience Research Australia Institute) ; Sachdev, Perminder S. (the Prince of Wales Hospital) ; Henders, Anjali K. (University of Queensland) ; Wallace, Leanne (University of Queensland) ; De Carvalho, Mamede (Universidade de Lisboa) ; Pinto, Susana (Universidade de Lisboa) ; Petri, Susanne (Hannover Medical School) ; Weber, Markus (Kantonsspital St. Gallen) ; Rouleau, Guy A. (McGill University) ; Silani, Vincenzo (Università degli Studi di Milano) ; Curtis, Charles J. (King's College London) ; Breen, Gerome (King's College London) ; Glass, Jonathan D. (Emory University School of Medicine) ; Brown, Robert H. (University of Massachusetts Medical School) ; Landers, John E. (University of Massachusetts Medical School) ; Shaw, Christopher E. (King's College London) ; Andersen, Peter Munch (Umeå University) ; Groen, Ewout J. N. (Utrecht University) ; van Es, Michael A. (Utrecht University) ; Pasterkamp, R. Jeroen (Utrecht University) ; Fan, Dongsheng (Peking University) ; Garton, Fleur C. (University of Queensland) ; McRae, Allan F. (University of Queensland) ; Smith, George Davey (Bristol Medical School) ; Gaunt, Tom (Bristol Medical School) ; Eberle, Michael A. (Illumina) ; Mill, Jonathan (University of Exeter) ; McLaughlin, Russell L. (Trinity College Dublin) ; Hardiman, Orla (Trinity College Dublin) ; Kenna, Kevin P. (Utrecht University) ; Wray, Naomi R. (University of Queensland) ; Tsai, Ellen (Biogen. Translational Biology) ; Runz, Heiko (Biogen. Translational Biology) ; Franke, Lude (University Medical Centre Groningen) ; Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ; Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ; van den Berg, Leonard H. (Utrecht University) ; Veldink, Jan (Utrecht University) ; Universitat Autònoma de Barcelona
2022 - 10.1038/s41588-022-01020-3
Nature genetics, Vol. 54 (january 2022) , p. 361  
8.
32 p, 8.9 MB Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology / van Rheenen, Wouter (Utrecht University) ; van der Spek, Rick A. A. (Utrecht University) ; Bakker, Mark K. (Utrecht University) ; van Vugt, Joke J. F. A. (Utrecht University) ; Hop, Paul J. (Utrecht University) ; Zwamborn, Ramona A. J. (Utrecht University.) ; de Klein, Niek (University Medical Centre Groningen) ; Westra, Harm-Jan (University Medical Centre Groningen) ; Bakker, Olivier B. (University Medical Centre Groningen) ; Deelen, Patrick (Utrecht University) ; Shireby, Gemma (University of Exeter) ; Hannon, Eilis (University of Exeter) ; Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ; Baird, Denis (University of Bristol) ; Restuadi, Restuadi (University of Queensland) ; Dolzhenko, Egor (Illumina) ; Dekker, Annelot M. (Utrecht University) ; Gawor, Klara (Utrecht University) ; Westeneng, Henk-Jan (Utrecht University) ; Tazelaar, Gijs H. P. (Utrecht University) ; van Eijk, Kristel R. (Utrecht University) ; Kooyman, Maarten (Utrecht University) ; Byrne, Ross P. (Trinity College Dublin) ; Doherty, Mark (Trinity College Dublin) ; Heverin, Mark (Trinity College Dublin) ; Al Khleifat, Ahmad (King's College London) ; Iacoangeli, Alfredo (King's College London) ; Shatunov, Aleksey (King's College London) ; Ticozzi, Nicola (Università degli Studi di Milano) ; Cooper-Knock, Johnathan (University of Sheffield) ; Smith, Bradley N. (King's College London) ; Gromicho, Marta (Universidade de Lisboa) ; Chandran, Siddharthan (University of Edinburgh) ; Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ; Morrison, Karen E. (Queen's University Belfast) ; Shaw, Pamela J. (University of Sheffield) ; Hardy, John (University College London) ; Orrell, Richard W. (University College London) ; Sendtner, Michael (University Hospital Würzburg) ; Meyer, Thomas (Humboldt University) ; Başak, Nazli (Bogazici University) ; van der Kooi, Anneke J. (Academic Medical Center) ; Ratti, Antonia (Università degli Studi di Milano) ; Fogh, Isabella (King's College London) ; Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ; Lauria, Giuseppe (University of Milan) ; Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ; Cereda, Cristina (IRCCS Mondino Foundation) ; Sproviero, Daisy (IRCCS Mondino Foundation) ; D'Alfonso, Sandra (University of Eastern Piedmont) ; Sorarù, Gianni (University of Padova) ; Siciliano, Gabriele (University of Pisa) ; Filosto, Massimiliano (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ; Brunetti, Maura (University of Torino) ; Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza.) ; Grassano, Maurizio (University of Torino) ; Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ; Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G) ; Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ; Osmanovic, Alma (University Hospital Essen (Alemanya)) ; Nordin, Angelica (Umeå University) ; Lerner, Yossef (Hadassah Medical Center) ; Zabari, Michal (Hadassah Medical Center) ; Gotkine, Marc (Hadassah Medical Center) ; Baloh, Robert H. (Cedars-Sinai Medical Center) ; Bell, Shaughn (Cedars-Sinai Medical Center) ; Vourc'h, Patrick (UMR 1253, Université de Tours) ; Corcia, Philippe (CHU de Tours) ; Couratier, Philippe (Université de Limoges) ; Millecamps, Stéphanie (ICM, Sorbonne Université) ; Meininger, Vincent (Hôpital des Peupliers) ; Salachas, François (Hôpital de la Pitié-Salpêtrière, AP-HP) ; Mora Pardina, Jesus S. (Hospital San Rafael, Madrid) ; Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Dion, Patrick A. (McGill University) ; Ross, Jay P. (McGill University) ; Ludolph, Albert C. (Ulm University) ; Weishaupt, Jochen H. (Heidelberg University) ; Brenner, David (Heidelberg University) ; Freischmidt, Axel (German Center for Neurodegenerative Diseases (DZNE) Ulm) ; Bensimon, Gilbert (CHU-Nîmes) ; Brice, Alexis (Hôpital de la Pitié Salpêtrière.) ; Durr, Alexandra (Hôpital de la Pitié Salpêtrière) ; Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ; Saker-Delye, Safa (Genethon, CNRS UMR) ; Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ; Topp, Simon (King's College London) ; Rademakers, Rosa (Mayo Clinic College of Medicine) ; Tittmann, Lukas (Christian Albrechts-University Kiel) ; Lieb, Wolfgang (Christian Albrechts-University Kiel) ; Franke, Andre (Kiel University) ; Ripke, Stephan (Charité - Universitätsmedizin Berlin) ; Braun, Alice (Charité - Universitätsmedizin Berlin) ; Kraft, Julia (Charité - Universitätsmedizin Berlin) ; Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ; Hofman, Albert (Erasmus Medical Center Rotterdam) ; Rietschel, Marcella (Heidelberg University. Central Institute of Mental Health) ; Cichon, Sven (Institute of Neuroscience and Medicine INM-1, Research Center Juelich) ; Nöthen, Markus M. (University of Bonn. Life and Brain Center) ; Amouyel, Philippe (University of Lille) ; Traynor, Bryan J. (Johns Hopkins University) ; Singleton, Andrew B. (National Institute on Aging, NIH) ; Mitne Neto, Miguel (Universidade de São Paulo) ; Cauchi, Ruben J. (University of Malta) ; Ophoff, Roel A. (University of California) ; Wiedau-Pazos, Martina (University of California) ; Lomen-Hoerth, Catherine (University of California) ; Van Deerlin, Vivianna (University of Pennsylvania) ; Grosskreutz, Julian (University of Luebeck) ; Roediger, Annekathrin (Jena University Hospital (Alemanya)) ; Gaur, Nayana (Jena University Hospital (Alemanya)) ; Jörk, Alexander (Jena University Hospital (Alemanya)) ; Barthel, Tabea (Jena University Hospital (Alemanya)) ; Theele, Erik (Jena University Hospital (Alemanya)) ; Ilse, Benjamin (Jena University Hospital (Alemanya)) ; Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ; Witte, Otto W. (Jena University Hospital (Alemanya)) ; Steinbach, Robert (Jena University Hospital (Alemanya)) ; Hübner, Christian A. (Jena University Hospital (Alemanya)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ; Demeshonok, Vera (ALS-Care Center, 'GAOORDI', Medical Clinic of the St. Petersburg) ; Ataulina, Anastasia (Bujanov Moscow Clinical Hospital) ; Rogelj, Boris (University of Ljubljana) ; Koritnik, Blaž (University Medical Centre Ljubljana.) ; Zidar, Janez (University Medical Centre Ljubljana) ; Ravnik-Glavač, Metka (University of Ljubljana.) ; Glavač, Damjan (University of Ljubljana) ; Stević, Zorica (University of Belgrade) ; Drory, Vivian (Tel Aviv University) ; Povedano, Monica (Hospital Universitari de Bellvitge) ; Blair, Ian P. (Macquarie University) ; Kiernan, Matthew C. (University of Sydney) ; Benyamin, Beben (University of South Australia) ; Henderson, Robert D. (Royal Brisbane and Women's Hospital) ; Furlong, Sarah (Macquarie University) ; Mathers, Susan (Calvary Health Care Bethlehem) ; McCombe, Pamela A. (University of Queensland) ; Needham, Merrilee (Murdoch University) ; Ngo, Shyuan T. (University of Queensland) ; Nicholson, Garth A. (Concord Repatriation General Hospital) ; Pamphlett, Roger (University of Sydney) ; Rowe, Dominic B. (Macquarie University) ; Steyn, Frederik J. (University of Queensland) ; Williams, Kelly (Macquarie University) ; Mather, Karen A. (Neuroscience Research Australia Institute) ; Sachdev, Perminder S. (Neuropsychiatric Institute) ; Henders, Anjali K. (University of Queensland. Institute for Molecular Bioscience) ; Wallace, Leanne (University of Queensland. Institute for Molecular Bioscience) ; De Carvalho, Mamede (Universidade de Lisboa) ; Pinto, Susana (Universidade de Lisboa) ; Petri, Susanne (Hannover Medical School) ; Weber, Markus (Kantonsspital St. Gallen) ; Rouleau, Guy A. (McGill University) ; Silani, Vincenzo (Università degli Studi di Milano) ; Curtis, Charles J. (King's College London) ; Breen, Gerome (King's College London.) ; Glass, Jonathan D. (Emory University School of Medicine) ; Brown, Robert H. (University of Massachusetts Medical School) ; Landers, John E. (University of Massachusetts Medical School) ; Shaw, Christopher E. (King's College London) ; Andersen, Peter Munch (Umeå University) ; Groen, Ewout J. N. (Utrecht University) ; van Es, Michael A. (Utrecht University) ; Pasterkamp, R. Jeroen (Utrecht University) ; Fan, Dongsheng (Peking University) ; Garton, Fleur C. (University of Queensland) ; McRae, Allan F. (University of Queensland) ; Smith, George Davey (Bristol Medical School) ; Gaunt, Tom (Bristol Medical School) ; Eberle, Michael A. (Illumina) ; Mill, Jonathan (University of Exeter) ; McLaughlin, Russell L. (Trinity College Dublin) ; Hardiman, Orla (Trinity College Dublin) ; Kenna, Kevin P. (Utrecht University) ; Wray, Naomi R. (University of Queensland) ; Tsai, Ellen (Biogen) ; Runz, Heiko (Biogen. Translational Biology) ; Franke, Lude (University Medical Centre Groningen) ; Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ; Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ; van den Berg, Leonard H. (Utrecht University) ; Veldink, Jan (Utrecht University) ; Universitat Autònoma de Barcelona
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. [...]
2021 - 10.1038/s41588-021-00973-1
Nature genetics, Vol. 53 (december 2021) , p. 1636-1648  
9.
13 p, 722.8 KB A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers / 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  
10.
9 p, 1.2 MB Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset / Billingsley, K. J. (National Institute on Aging (Estats Units d'Amèrica)) ; Barbosa, I. A. (King's College London) ; Bandres-Ciga, Sara (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Quinn, J. P. ; Bubb, Vivien ; Deshpande, Charulata (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Botia, J. A. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Reynolds, Regina H (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Zhang, D. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Simpson, M. A. (King's College London) ; Blauwendraat, Cornelis (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Gan-Or, Z. (Department of Human Genetics. McGill University) ; Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Nalls, M. A. (Data Tecnica International) ; Singleton, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Noyce, A. (Preventive Neurology Unit. Wolfson Institute of Preventive Medicine. QMUL) ; Tucci, A. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Middlehurst, B. ; Kia, Demis A (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Tan, M. (Department of Clinical Neuroscience. University College London) ; Houlden, Henry (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Morris, H. R. (Department of Clinical Neuroscience. University College London) ; Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Trabzuni, D. (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, Jose (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Mok, K. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Kinghorn, K. (Institute of Healthy Ageing. University College London) ; Wood, N. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Lewis, P. (University of Reading) ; Guerreiro, Rita (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Lovering, R. (University College London) ; R'Bibo, L. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizig, M. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Foltynie, T. (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Williams, N. (Cardiff University School of Medicine) ; Brice, Alexis (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, S. (Institut du Cerveau et de la Moelle épinière. ICM. Inserm U 1127. CNRS. UMR 7225. Sorbonne Universités. UPMC University Paris 06. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, M. (INSERM UMR 1220; and Paul Sabatier University) ; Giri, A. (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, M. (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Nicolas, A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Faghri, F. (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Hernández, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Shulman, J. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Robak, L. (Baylor College of Medicine) ; Lubbe, S. (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, N. (Northwestern University Feinberg School of Medicine) ; Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Scholz, S. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, X. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Leonard, H. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rouleau, G. (Montreal Neurological Institute. McGill University) ; Krohan, L. (Department of Human Genetics. McGill University) ; van Hilten, J. (Department of Neurology. Leiden University Medical Center) ; Marinus, J. (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aguilar Barberà, Miquel (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Ignacio (Mútua de Terrassa) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Javier Barrero, F. (Hospital Universitario Parque Tecnologico de la Salud) ; Bergareche Yarza, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bernal, M. B. T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Boungiorno, M. T (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carcel, M. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Dols Icardo, Oriol (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, J. (Hospital General de Segovia) ; Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, F. (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Fernández, M. (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, C.. (Hospital Universitario Central de Asturias) ; García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Heredia, M. G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ; Infante, J. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lopez-Sendon, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; de Munain Arregui, A. L. (Hospital Universitario Ramón y Cajal (Madrid)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ; Marín, J. (Institut d'Investigació Biomèdica Sant Pau) ; Marti, M. J. (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, J. (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Menéndez González, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Mínguez, A. (Instituto de Investigación Sanitaria de Granada) ; Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz García, José Esteban (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Errazquin, F. P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Ruz, C. (Centro de Investigacion Biomedica. Universidad de Granada) ; Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, E. (Clinical Genetics Unit. Guys and St. Thomas' NHS Foundation Trust) ; Tabernero, C. (Hospital Universitario Ramón y Cajal (Madrid)) ; Tartari, J. P. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tejera-Parrado, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, F. (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, L. (Oslo University Hospital (Oslo, Noruega)) ; Taba, P. (Department of Neurology and Neurosurgery. University of Tartu) ; Majamaa, K. (Oulu University Hospital (Finlàndia)) ; Siitonen, A. (Institute of Clinical Medicine. Department of Neurology. University of Oulu) ; Okubadejo, N. (University of Lagos) ; Ojo, O. (University of Lagos) ; Ryten, Mina (Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Koks, S. (Centre for Comparative Genomics. Murdoch University) ; Universitat Autònoma de Barcelona
Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson's disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. [...]
2019 - 10.1038/s41531-019-0080-x
NPJ Parkinson's disease, Vol. 5 Núm. 1 (january 2019) , p. 8  

Artículos : Encontrados 12 registros   1 - 10siguiente  ir al registro:
Vea también: autores con nombres similares
8 Singleton, A. B.
1 Singleton, Andrew
2 Singleton, Andrew B
9 Singleton, Andrew B.
¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.