Resultats globals: 9 registres trobats en 0.02 segons.
Articles, 9 registres trobats
Articles 9 registres trobats  
1.
16 p, 4.3 MB Common variants in Alzheimer's disease and risk stratification by polygenic risk scores / de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tesi, Niccolo (Delft Univeristy of Technology) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille) ; Andrade, Victor (University Clinic Bonn) ; Jansen, Iris E. (Vrije Universiteit Amsterdam) ; Pedersen, Nancy L. (Karolinska Institutet.) ; Stringa, Najada (Amsterdam UMC-Vrije Universiteit Amsterdam) ; Zettergren, Anna (University of Gothenburg) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Montrreal, Laura (Universitat Internacional de Catalunya) ; Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Antonell, Anna (Universitat de Barcelona) ; Tankard, Rick M. (Murdoch University) ; Bis, Joshua C. (University of Washington) ; Sims, Rebecca (Cardiff University) ; Bellenguez, Céline (Institut Pasteur de Lille) ; Quintela, Inés (Universidade de Santiago de Compostela) ; González-Perez, Antonio (Centro Andaluz de Estudios Bioinformáticos, Sevilla) ; Calero, Miguel (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Franco-Macías, Emilio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Macías, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Cervera-Carles, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Menéndez-González, Manuel (Universidad de Oviedo) ; Frank-García, Ana (Universidad Autónoma de Madrid) ; Royo, Jose Luís (Universidad de Málaga) ; Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Huerto Vilas, Raquel (Institut de Recerca Biomedica de Lleida) ; Baquero, Miquel (Hospital Universitari i Politècnic La Fe de València) ; Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Lage, Carmen (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; García-Madrona, Sebastián (Hospital Universitario Ramón y Cajal (Madrid)) ; García-González, Pablo (Universitat Internacional de Catalunya) ; Alarcón-Martín, Emilio (Universidad de Málaga) ; Valero, Sergi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Sotolongo-Grau, Oscar (Universitat Internacional de Catalunya) ; Ullgren, Abbe (Karolinska University Hospital-Solna) ; Naj, Adam C. (University of Pennsylvania) ; Lemstra, Afina W. (Vrije Universiteit Amsterdam) ; Benaque, Alba (Universitat Internacional de Catalunya) ; Pérez-Cordón, Alba (Universitat Internacional de Catalunya) ; Benussi, Alberto (University of Brescia) ; Rábano, Alberto (BT-CIEN, Madrid, Spain) ; Padovani, Alessandro (University of Brescia) ; Squassina, Alessio (University of Cagliari) ; de Mendonça, Alexandre (University of Lisbon) ; Arias Pastor, Alfonso (Institut de Recerca Biomedica de Lleida) ; Kok, Almar A. L. (Vrije Universiteit Amsterdam) ; Meggy, Alun (Cardiff University) ; Pastor, Ana Belén (BT-CIEN, Madrid, Spain) ; Espinosa, Ana (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Corma-Gómez, Anaïs (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Martín Montes, Angel (Hospital Universitario La Paz (Madrid)) ; Sanabria, Ángela (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; DeStefano, Anita L. (Boston University) ; Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE)) ; Haapasalo, Annakaisa (University of Eastern Finland) ; Kinhult Ståhlbom, Anne (Karolinska University Hospital-Solna) ; Tybjærg-Hansen, Anne (University of Copenhagen) ; Hartmann, Annette M. (Martin-Luther-University Halle-Wittenberg) ; Spottke, Annika (University of Bonn) ; Corbatón-Anchuelo, Arturo (CIBERDEM) ; Rongve, Arvid (University of Bergen) ; Borroni, Barbara (University of Brescia) ; Arosio, Beatrice (IRCCS Ospedale Maggiore Policlinico) ; Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ; Nordestgaard, Børge G. (Herlev Gentofte Hospital) ; Kunkle, Brian W. (University of Miami) ; Charbonnier, Camille (Normandie Univ, UNIROUEN) ; Abdelnour, Carla (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Masullo, Carlo (Catholic University of the Sacred Heart) ; Martínez Rodríguez, Carmen (Hospital de Cabueñes) ; Muñoz-Fernandez, Carmen (Hospital Universitario de Gran Canaria Dr. Negrín) ; Dufouil, Carole (CHU de Bordeaux) ; Graff, Caroline (Karolinska University Hospital-Solna) ; Ferreira, Catarina B. (Universidade de Lisboa) ; Chillotti, Caterina (University Hospital of Cagliari) ; Reynolds, Chandra A. (University of California-Riverside) ; Fenoglio, Chiara (Dino Ferrari Center. University of Milan) ; Van Broeckhoven, Christine (University of Antwerp) ; Clark, Christopher (University of Zürich) ; Pisanu, Claudia (University of Cagliari) ; Satizabal, Claudia L. (UT Health San Antonio) ; Holmes, Clive (University of Southampton) ; Buiza-Rueda, Dolores (Universidad de Sevilla) ; Aarsland, Dag (Stavanger University Hospital) ; Rujescu, Dan (Martin-Luther-University Halle-Wittenberg) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Galimberti, Daniela (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Wallon, David (Normandie Univ, UNIROUEN) ; Seripa, Davide (Fondazione IRCCS Casa Sollievo della Sofferenza) ; Grünblatt, Edna (University of Zurich) ; Dardiotis, Efthimios (University of Thessaly. School of Medicine) ; Düzel, Emrah (Otto-von-Guericke University) ; Scarpini, Elio (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Conti, Elisa (University of Milano-Bicocca) ; Rubino, Elisa (AOU Città della Salute e della Scienza di Torino) ; Gelpi, Ellen (Medical University of Vienna) ; Rodriguez-Rodriguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Duron, Emmanuelle (APHP, Hôpital Broca) ; Boerwinkle, Eric (Baylor College of Medicine) ; Ferri, Evelyn (IRCCS Ospedale Maggiore Policlinico) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Küçükali, Fahri (University of Antwerp) ; Pasquier, Florence (CHU CNR-MAJ, Lille) ; Sanchez-Garcia, Florentino (Hospital Universitario de Gran Canaria Dr. Negrín) ; Mangialasche, Francesca (Karolinska Institutet) ; Jessen, Frank (University of Cologne) ; Nicolas, Gaël (Hospital de Cabueñes) ; Selbæk, Geir (University of Oslo) ; Ortega, Gemma (National Institute of Health Carlos III) ; Chêne, Geneviève (CHU de Bordeaux, Pole de Santé Publique) ; Hadjigeorgiou, Georgios (University of Cyprus) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Spalletta, Gianfranco (Baylor College of Medicine) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Grande, Giulia (Karolinska Institutet and Stockholm University) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Papenberg, Goran (Karolinska Institutet and Stockholm University) ; Hampel, Harald (Pitié-Salpêtrière Hospital) ; Bailly, Henri (Université Paris Descartes) ; Zetterberg, Henrik (UK Dementia Research Institute at UCL) ; Soininen, Hilkka (Kuopio University Hospital) ; Karlsson, Ida K. (Jönköping University) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Appollonio, Ildebrando (San Gerardo hospital) ; Giegling, Ina (Martin-Luther-University Halle-Wittenberg) ; Skoog, Ingmar (University of Gothenburg) ; Saltvedt, Ingvild (Norwegian University of Science and Technhology) ; Rainero, Innocenzo (University of Torino) ; Rosas Allende, Irene (Hospital Universitario Central de Asturias) ; Hort, Jakub (St. Anne's University Hospital Brno) ; Diehl-Schmid, Janine (Technical University of Munich) ; Van Dongen, Jasper (Institute Born-Bunge) ; Vidal, Jean-Sebastien (Université Paris Descartes) ; Lehtisalo, Jenni (Finnish Institute for Health and Welfare) ; Wiltfang, Jens (University of Aveiro) ; Thomassen, Jesper Qvist (Rigshospitalet. Department of Clinical Biochemistry) ; Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg) ; Haines, Jonathan L. (Case Western Reserve University) ; Vogelgsang, Jonathan (Harvard Medical School) ; Pineda, Juan A. (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Popp, Julius (Lausanne University Hospital) ; Deckert, Jürgen (University Hospital, Wuerzburg) ; Buerger, Katharina (German Center for Neurodegenerative Diseases) ; Morgan, Kevin (University of Nottingham) ; Fließbach, Klaus (University Clinic Bonn) ; Sleegers, Kristel (University of Antwerp) ; Molina-Porcel, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Kilander, Lena (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Weinhold, Leonie (University Hospital of Bonn) ; Farrer, Lindsay A. (Boston University) ; Wang, Li-San (University of Pennsylvania) ; Kleineidam, Luca (University Clinic Bonn) ; Farotti, Lucia (University of Perugia) ; Parnetti, Lucilla (University of Perugia) ; Tremolizzo, Lucio (Neurology Unit, 'San Gerardo' hospital) ; Hausner, Lucrezia (University of Heidelberg) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Froelich, Lutz (University of Heidelberg) ; Ikram, M. Arfan (Erasmus Medical Center) ; Deniz-Naranjo, M. Candida (Hospital Universitario de Gran Canaria Dr. Negrín) ; Tsolaki, Magda (University of Thessaloniki) ; Rosende-Roca, Maitée (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Löwenmark, Malin (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Hulsman, Marc (Vrije Universiteit Amsterdam) ; Spallazzi, Marco (Azienda Ospedaliero-Universitaria) ; Pericak-Vance, Margaret A. (University of Miami) ; Esiri, Margaret (Nuffield Department of Clinical Neurosciences) ; Bernal Sánchez-Arjona, María (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Dalmasso, Maria Carolina (University of Cologne) ; Martínez-Larrad, María Teresa (CIBERDEM) ; Arcaro, Marina (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Nöthen, Markus M. (University of Bonn) ; Fernández-Fuertes, Marta (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Dichgans, Martin (Munich Cluster for Systems Neurology) ; Ingelsson, Martin (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Herrmann, Martin J. (University Hospital, Wuerzburg) ; Scherer, Martin (University Medical Centre Hamburg-Eppendorf) ; Vyhnalek, Martin (St. Anne's University Hospital Brno) ; Kosmidis, Mary H. (Aristotle University of Thessaloniki) ; Yannakoulia, Mary (Harokopio University) ; Schmid, Matthias (University Hospital of Bonn) ; Ewers, Michael (German Center for Neurodegenerative Diseases) ; Heneka, Michael T. (German Center for Neurodegenerative Diseases) ; Wagner, Michael (German Center for Neurodegenerative Diseases) ; Scamosci, Michela (University of Perugia) ; Kivipelto, Miia (Stockholms Sjukhem, Research & Development Unit, Stockholm, Sweden) ; Hiltunen, Mikko (University of Eastern Finland. Institute of Biomedicine) ; Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fornage, Myriam (University of Texas) ; Roberto, Natalia (Universitat Internacional de Catalunya) ; van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ; Seidu, Nazib M. (University of Gothenburg) ; Banaj, Nerisa (IRCCS Santa Lucia Foundation) ; Armstrong, Nicola J. (Murdoch University) ; Scarmeas, Nikolaos (Columbia University) ; Scherbaum, Norbert (University of Duisburg-Essen) ; Goldhardt, Oliver (Technical University of Munich) ; Hanon, Oliver (Université Paris Descartes) ; Peters, Oliver (German Center for Neurodegenerative Diseases) ; Skrobot, Olivia Anna (University of Bristol) ; Quenez, Olivier (FHU G4 Génomique. Normandie Univ) ; Lerch, Ondrej (St. Anne's University Hospital Brno) ; Bossù, Paola (IRCCS Santa Lucia Foundation) ; Caffarra, Paolo (University of Parma) ; Dionigi Rossi, Paolo (IRCCS Ospedale Maggiore Policlinico) ; Sakka, Paraskevi (Athens Association of Alzheimer's disease and Related Disorders) ; Hoffmann, Per (University Hospital Basel (Basilea, Suïssa)) ; Holmans, Peter A. (Cardiff University) ; Fischer, Peter (Social Medicine Center East- Donauspital) ; Riederer, Peter (University Hospital of Würzburg) ; Yang, Qiong (Boston University) ; Marshall, Rachel (Cardiff University) ; Kalaria, Rajesh N. (Campus for Ageing anf Vitality, Newcastle upon Tyne) ; Mayeux, Richard (Columbia University) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; Cecchetti, Roberta (University of Perugia) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Frikke-Schmidt, Ruth (University of Copenhagen) ; Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ; Hägg, Sara (Karolinska Institutet) ; Engelborghs, Sebastiaan (VUB University Hospital Brussels) ; Helisalmi, Seppo (University of Eastern Finland) ; Botne Sando, Sigrid (Norwegian University of Science and Technology) ; Kern, Silke (University of Gothenburg) ; Archetti, Silvana (Brescia Hospital) ; Boschi, Silvia (University of Torino) ; Fostinelli, Silvia (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Gil, Silvia (Universitat Internacional de Catalunya) ; Mendoza, Silvia (Instituto Andaluz de Neurociencia) ; Mead, Simon (Institute of Prion Diseases. MRC Prion Unit at UCL) ; Ciccone, Simona (IRCCS Ospedale Maggiore Policlinico) ; Djurovic, Srdjan (University of Bergen) ; Heilmann-Heimbach, Stefanie (University of Bonn) ; Riedel-Heller, Steffi (University of Leipzig) ; Kuulasmaa, Teemu (University of Eastern Finland) ; del Ser, Teodoro (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Lebouvier, Thibaud (CHU CNR-MAJ, Lille, France) ; Polak, Thomas (University Hospital, Wuerzburg) ; Ngandu, Tiia (Finnish Institute for Health and Welfare. Population Health Unit) ; Grimmer, Timo (Technical University of Munich) ; Bessi, Valentina (Azienda Ospedaliero-Universitaria Careggi Largo Brambilla) ; Escott-Price, Valentina (Cardiff University) ; Giedraitis, Vilmantas (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Deramecourt, Vincent (CHU CNR-MAJ, Lille, France) ; Maier, Wolfgang (German Center for Neurodegenerative Diseases) ; Jian, Xueqiu (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam) ; Kehoe, Patrick Gavin (German Center for Neurodegenerative Diseases) ; García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ; Sánchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Pérez-Tur, Jordi (Instituto de Investigación Sanitaria La Fe) ; Piñol-Ripoll, Gerard (Institut de Recerca Biomedica de Lleida) ; Lopez de Munain, Adolfo (Universidad del País Vasco) ; García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ; Bullido, María J. (Hospital Universitario La Paz (Madrid)) ; Álvarez, Victoria (Hospital Universitario Central de Asturias) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Real, Luis M. (Universidad de Málaga) ; Mir, Pablo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Medina, Miguel (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Scheltens, Philip (Vrije Universiteit Amsterdam) ; Holstege, Henne (Vrije Universiteit Amsterdam) ; Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos, Sevilla) ; Carracedo, Ángel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Amouyel, Philippe (Institut Pasteur de Lille) ; Schellenberg, Gerard D. (University of Pennsylvania) ; Williams, Julie (Cardiff University) ; Seshadri, Sudha (Framingham Heart Study) ; van Duijn, Cornelia M. (University of Oxford) ; Mather, Karen A. (Neuroscience Research Australia) ; Sánchez-Valle, Raquel (Universitat de Barcelona) ; Serrano-Ríos, Manuel (CIBERDEM) ; Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blennow, Kaj (University of Gothenburg) ; Huisman, Martijn (Vrije Universiteit Amsterdam) ; Andreassen, Ole A. (Oslo University Hospital (Oslo, Noruega)) ; Posthuma, Danielle (Vrije Universiteit Amsterdam) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; van der Flier, Wiesje M. (Vrije Universiteit Amsterdam) ; Ramirez, Alfredo (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Lambert, Jean-Charles (Institut Pasteur de Lille) ; van der Lee, Sven J. (Vrije Universiteit Amsterdam) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. [...]
2021 - 10.1038/s41467-021-22491-8
Nature communications, Vol. 12 (june 2021)  
2.
13 p, 1.3 MB Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease / Escott-Price, Valentina (Clinical Cardiff University) ; Bellenguez, Céline (Institut Pasteur de Lille, Lille, France) ; Wang, Li-San (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Choi, Seung-Hoan (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Harold, Denise (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Jones, Lesley (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Holmans, Peter (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Gerrish, Amy (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vedernikov, Alexey (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Richards, Alexander (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; DeStefano, Anita L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Lambert, Jean-Charles (Institut Pasteur de Lille, Lille, France) ; Ibrahim-Verbaas, Carla A. (Department of Epidemiology and Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Naj, Adam C. (Department of Biostatistics and Epidemiology and Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America) ; Sims, Rebecca (Cardiff University. Institute of Psychological Medicine and Clinical Neurosciences) ; Jun, Gyungah (Department of Ophthalmology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Bis, Joshua C. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Beecham, Gary W. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille, Lille, France) ; Russo, Giancarlo (Functional Genomics Center Zurich, ETH/University of Zurich, Zurich, Switzerland) ; Thornton-Wells, Tricia A. (Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America) ; Denning, Nicola (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Smith, Albert V. (Icelandic Heart Association, Kopavogur, Iceland) ; Chouraki, Vincent (Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Thomas, Charlene (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Ikram, M. Arfan (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Zelenika, Diana (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Vardarajan, Badri N. (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Kamatani, Yoichiro (Fondation Jean Dausset- CEPH, Paris, France) ; Lin, Chiao-Feng (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Schmidt, Helena (Institute for Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria) ; Kunkle, Brian (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Dunstan, Melanie L. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vronskaya, Maria (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Johnson, Andrew D. (NHLBI Cardiovascular Epidemiology and Human Genomics Branch, The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Ruiz, Agustin (Fundació ACE. Institut Català de Neurociències Aplicades) ; Bihoreau, Marie-Thérèse (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Reitz, Christiane (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Pasquier, Florence (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Hollingworth, Paul (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Hanon, Olivier (University Paris Descartes, Sorbonne Paris V, Broca Hospital, Geriatrics department, Paris, France) ; Fitzpatrick, Annette L. (Departments of Epidemiology and Global Health, University of Washington, Seattle, Washington, United States of America) ; Buxbaum, Joseph D. (Departments of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States of America) ; Campion, Dominique (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Crane, Paul K. (Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Baldwin, Clinton (Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Becker, Tim (German Center for Neurodegenerative Diseases (DZNE), Bonn, and Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany) ; Gudnason, Vilmundur (Icelandic Heart Association, Kopavogur, Iceland) ; Cruchaga, Carlos (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Craig, David (Ageing Group, Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom) ; Amin, Najaf (Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Berr, Claudine (INSERM U1061, Faculty of Medicine, Hôpital La Colombière, Montpellier, France) ; Lopez, Oscar L. (Departments of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America) ; De Jager, Philip L. (Program in Medical and Population Genetics, Broad Institute, Boston, Massachusetts, United States of America) ; Deramecourt, Vincent (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Johnston, Janet A. (Ageing Group, Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom) ; Evans, Denis (Rush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, United States of America) ; Lovestone, Simon (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Letenneur, Luc (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Hernández, Isabel (Fundació ACE. Institut Català de Neurociències Aplicades) ; Rubinsztein, David C. (Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom) ; Eiriksdottir, Gudny (Icelandic Heart Association, Kopavogur, Iceland) ; Sleegers, Kristel (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Goate, Alison M. (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Fiévet, Nathalie (Institut Pasteur de Lille, Lille, France) ; Huentelman, Matthew J. (Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America) ; Gill, Michael (Discipline of Psychiatry, Trinity College, Dublin, Ireland) ; Brown, Kristelle (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Kamboh, M. Ilyas (Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America) ; Keller, Lina (Aging Reasearch Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden) ; Barberger-Gateau, Pascale (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; McGuinness, Bernadette (Ageing Group, Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom) ; Larson, Eric B. (Group Health Research Institute, Group Health, Seattle, Washington, United States of America) ; Myers, Amanda J. (Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, Florida, United States of America) ; Dufouil, Carole (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Todd, Stephen (Ageing Group, Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom) ; Wallon, David (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Love, Seth (University of Bristol Institute of Clinical Neurosciences, School of Clinical Sciences, Frenchay Hospital, Bristol, United Kingdom) ; Rogaeva, Ekaterina (Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada) ; Gallacher, John (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; George-Hyslop, Peter St (Cambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom) ; Clarimon, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleo, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Bayer, Anthony (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; Tsuang, Debby W. (Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States of America) ; Yu, Lei (Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, United States of America) ; Tsolaki, Magda (3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece) ; Bossù, Paola (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Spalletta, Gianfranco (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Proitsi, Petra (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Collinge, John (MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ; Sorbi, Sandro (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Garcia, Florentino Sanchez (Hospital Universitario de Gran Canaria Dr. Negrín) ; Fox, Nick C. (Dementia Research Center, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ; Hardy, John (Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, London, United Kingdom) ; Naranjo, Maria Candida Deniz (Hospital Universitario de Gran Canaria Dr. Negrín) ; Bosco, Paolo (IRCCS Associazione Oasi Maria SS, Troina, Italy) ; Clarke, Robert (Oxford Healthy Aging Project (OHAP), Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom) ; Brayne, Carol (Cognitive Function and Ageing Study (CFAS), Institute of Public Health, University of Cambridge, Cambridge, United Kingdom) ; Galimberti, Daniela (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Scarpini, Elio (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Bonuccelli, Ubaldo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Mancuso, Michelangelo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Siciliano, Gabriele (Neurological Clinic, University of Pisa, Pisa, Italy) ; Moebus, Susanne (Urban Epidemiology, Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University Duisburg-Essen, Essen, Germany) ; Mecocci, Patrizia (Section of Gerontology and Geriatrics, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy) ; Zompo, Maria Del (Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy) ; Maier, Wolfgang (Department of Psychiatry and Psychotherapy, University of Bonn, Germany and German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany) ; Hampel, Harald (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Pilotto, Alberto (Gerontology and Geriatrics Research Laboratory, I.R.C.C.S. Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy) ; Frank-García, Ana (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Panza, Francesco (Department of Geriatrics,Center for Aging Brain,University of Bari, Bari, Italy) ; Solfrizzi, Vincenzo (Department of Geriatrics,Center for Aging Brain,University of Bari, Bari, Italy) ; Caffarra, Paolo (Center for Cognitive Disorders AUSL, Parma, Italy) ; Nacmias, Benedetta (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Perry, William (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Mayhaus, Manuel (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Lannfelt, Lars (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Hakonarson, Hakon (Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America) ; Pichler, Sabrina (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Ingelsson, Martin (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Beekly, Duane (National Alzheimer's Coordinating Center, University of Washington, Seattle, Washington, United States of America) ; Alvarez, Victoria (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Zou, Fanggeng (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Valladares, Otto (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Younkin, Steven G. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Coto, Eliecer (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Hamilton-Nelson, Kara L. (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Gu, Wei (Department of Psychiatry, University Hospital, Saarland, Germany) ; Razquin, Cristina (Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain) ; Pastor, Pau (CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain) ; Mateo, Ignacio (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Owen, Michael J. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Faber, Kelley M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Jonsson, Palmi V. (Landspitali University Hospital, Reykjavik, Iceland) ; Combarros, Onofre (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; O'Donovan, Michael C. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Cantwell, Laura B. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Soininen, Hilkka (Department of Neurology, Kuopio University Hospital, Kuopio, Finland) ; Blacker, Deborah (Massachusetts General Hospital) ; Mead, Simon (MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ; Mosley, Thomas H. (Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, Mississippi, United States of America) ; Bennett, David A. (Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, United States of America) ; Harris, Tamara B. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Fratiglioni, Laura (Department Geriatric Medicine, Genetics Unit, Karolinska University Hospital Huddinge, Stockholm, Sweden) ; Holmes, Clive (Division of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, United Kingdom) ; de Bruijn, Renee F. A. G. (Departments of Neurology and Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Passmore, Peter (Ageing Group, Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom) ; Montine, Thomas J. (Department of Pathology, University of Washington, Seattle, Washington, United States of America) ; Bettens, Karolien (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Rotter, Jerome I. (Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America) ; Brice, Alexis (AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France) ; Morgan, Kevin (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Foroud, Tatiana M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Kukull, Walter A. (Department of Epidemiology, University of Washington, Seattle, Washington, United States of America) ; Hannequin, Didier (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Powell, John F. (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Nalls, Michael A. (Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America) ; Ritchie, Karen (Imperial College, London, United Kingdom) ; Lunetta, Kathryn L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Kauwe, John S. K. (Department of Biology, Brigham Young University, Provo, Utah, United States of America) ; Boerwinkle, Eric (Human Genetics Center and Div. of Epidemiology, University of Texas Health Sciences Center at Houston, Houston, Texas, United States of America) ; Riemenschneider, Matthias (Department of Psychiatry, University Hospital, Saarland, Germany) ; Boada, Mercè (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hiltunen, Mikko (Department of Neurology, Kuopio University Hospital, Kuopio, Finland) ; Martin, Eden R. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Schmidt, Reinhold (Department of Neurology, Medical University Graz, Graz, Austria) ; Rujescu, Dan (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Dartigues, Jean-François (Centre de Mémoire de Ressources et de Recherche de Bordeaux, CHU de Bordeaux, Bordeaux, France) ; Mayeux, Richard (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Tzourio, Christophe (Inserm U708, Victor Segalen University, Bordeaux, France) ; Hofman, Albert (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Nöthen, Markus M. (University of Bonn. Life and Brain Center) ; Graff, Caroline (Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, KIADRC, Stockholm, Sweden) ; Psaty, Bruce M. (Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America) ; Haines, Jonathan L. (Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America) ; Lathrop, Mark (McGill University and Génome Québec Innovation Centre, Montreal, Canada) ; Pericak-Vance, Margaret A. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Launer, Lenore J. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Farrer, Lindsay A. (Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; van Duijn, Cornelia M. (Center for Medical Systems Biology, Leiden, The Netherlands) ; Ramirez, Alfredo (Department of Psychiatry and Psychotherapy and Institute of Human Genetics, University of Bonn, Bonn, Germany) ; Seshadri, Sudha (The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Schellenberg, Gerard D. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Amouyel, Philippe (Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Williams, Julie (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Universitat Autònoma de Barcelona
Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. [...]
2014 - 10.1371/journal.pone.0094661
PloS one, Vol. 9 (june 2014)  
3.
15 p, 570.6 KB C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts / Costa, Beatrice ; Manzoni, Claudia ; Bernal-Quiros, Manuel ; Kia, Demis A. ; Aguilar Barberà, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Andreassen, Ole A ; Anfossi, Maria ; Bagnoli, Silvia ; Benussi, Luisa ; Bernardi, Livia ; Binetti, Giuliano ; Blackburn, Daniel ; Boada, Mercè ; Borroni, Barbara ; Bowns, Lucy ; Bråthen, Geir ; Bruni, Amalia C. ; Chiang, Huei-Hsin ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Colville, Shuna ; Conidi, Maria E. ; Cope, Tom E. ; Cruchaga, Carlos ; Cupidi, Chiara ; Di Battista, Maria Elena ; Diehl-Schmid, Janine ; Diez-Fairen, Monica ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Durante, Elisabetta ; Flisar, Dušan ; Frangipane, Francesca ; Galimberti, Daniela ; Gallo, Maura ; Gallucci, Maurizio ; Ghidoni, Roberta ; Graff, Caroline ; Grafman, Jordan H. ; Grossman, Murray ; Hardy, John ; Hernández, Isabel ; Holloway, Guy J.T. ; Huey, Edward D. ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Karydas, Anna ; Khoshnood, Behzad ; Kramberger, Milica G. ; Kristiansen, Mark ; Lewis, Patrick A. ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Madhan, Gaganjit K. ; Maletta, Raffaele ; Maver, Aleš ; Menendez-Gonzalez, Manuel ; Milan, Graziella ; Miller, Bruce ; Mol, Merel O. ; Momeni, Parastoo ; Moreno-Grau, Sonia ; Morris, Chris M. ; Nacmias, Benedetta ; Nilsson, Christer ; Novelli, Valeria ; Öijerstedt, Linn ; Padovani, Alessandro ; Pal, Suvankar ; Panchbhaya, Yasmin ; Pastor, Pau ; Peterlin, Borut ; Piaceri, Irene ; Pickering-Brown, Stuart ; Pijnenburg, Yolande A.L. ; Puca, Annibale A. ; Rainero, Innocenzo ; Rendina, Antonella ; Richardson, Anna M.T. ; Rogaeva, Ekaterina ; Rogelj, Boris ; Rollinson, Sara ; Rossi, Giacomina ; Rossmeier, Carola ; Rowe, James B. ; Rubino, Elisa ; Ruiz, Agustín ; Sanchez-Valle, Raquel ; Sando, Sigrid B. ; Santillo, Alexander F. ; Saxon, Jennifer ; Scarpini, Elio ; Serpente, Maria ; Smirne, Nicoletta ; Sorbi, Sandro ; Suh, EunRan ; Tagliavini, Fabrizio ; Thompson, Jennifer C. ; Trojanowski, John Q. ; Van Deerlin, Vivianna M. ; Van der Zee, Julie ; Van Broeckhoven, Christine ; van Rooij, Jeroen ; Van Swieten, John C. ; Veronesi, Arianna ; Vitale, Emilia ; Waldö, Maria L. ; Woodward, Cathy ; Yokoyama, Jennifer ; Escott-Price, Valentina ; Polke, James M. ; Ferrari, Raffaele ; Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302  
4.
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 F (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 (Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ; Suh, EunRan (Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ; Rohrer, Jonathan D (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Prion Diseases) ; Graff, Caroline (Genetics Unit, Theme Aging, Karolinska University Hospital, Stockholm, Sweden) ; Öijerstedt, Linn (Genetics Unit, Theme Aging, Karolinska University Hospital, Stockholm, Sweden) ; Pickering-Brown, Stuart (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 C (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 (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Deramecourt, Vincent (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Lebouvier, Thibaud (National Reference Center for Young Onset Dementia, Neurology Department, Centre Hospitalier Régional Universitaire de Lille, University Hospital, Inserm U1171, DistAlz, Lille, France) ; Perneczky, Robert (Imperial College London. School of Public Health) ; Diehl-Schmid, Janine (Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany) ; 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 (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  
5.
10 p, 1.3 MB Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia / Bonham, L.W. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Steele, N.Z.R. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Karch, C.M. (Department of Psychiatry. Washington University) ; Broce, I. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Geier, E.G. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Wen, N.L. (Department of Psychiatry. Washington University) ; Momeni, P. (Texas Tech University Health Science Center. Laboratory of Neurogenetics) ; Hardy, J. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Miller, Z.A. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Gorno-Tempini, M.L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hess, C.P. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Lewis, P. (School of Pharmacy. University of Reading. Whiteknights) ; Miller, B.L. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Seeley, W.W. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Manzoni, C. (School of Pharmacy. University of Reading. Whiteknights) ; Desikan, R.S. (Neuroradiology Section. Department of Radiology and Biomedical Imaging. University of California. San Francisco) ; Baranzini, S.E. (Department of Neurology. University of California. San Francisco) ; Ferrari, R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Yokoyama, J.S. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Hernandez, D.G. (UCL Institute of Neurology (Regne Unit)) ; Nalls, M.A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, J.D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Ramasamy, A. (The Jenner Institute. University of Oxford) ; Kwok, J.B.J. (School of Medical Sciences. University of New South Wales) ; Dobson-Stone, C. (School of Medical Sciences. University of New South Wales) ; Schofield, P.R. (School of Medical Sciences. University of New South Wales) ; Halliday, G.M. (School of Medical Sciences. University of New South Wales) ; Hodges, J.R. (School of Medical Sciences. University of New South Wales) ; Piguet, O. (School of Medical Sciences. University of New South Wales) ; Bartley, L. (School of Medical Sciences. University of New South Wales) ; Thompson, E. (Department of Paediatrics. University of Adelaide) ; Haan, E. (Department of Paediatrics. University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Ruiz, A. (Institut Català de Neurociènces Aplicades) ; Boada, M. (Institut Català de Neurociènces Aplicades) ; Borroni, B. (Neurology Clinic. University of Brescia) ; Padovani, A. (Neurology Clinic. University of Brescia) ; Cruchaga, C. (Hope Center. Washington University School of Medicine) ; Cairns, N.J. (Department of Pathology and Immunology. Washington University) ; Benussi, Luisa (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, G. (MAC Memory Clinic. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, R. (Molecular Markers Laboratory. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, G. (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Albani, Diego (Biology of Neurodegenerative Disorders. IRCCS Istituto di Ricerche Farmacologiche "Mario Negri") ; Galimberti, D. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, C. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Serpente, M. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Scarpini, E. (Fondazione Cà Granda. IRCCS Ospedale Maggiore Policlinico) ; Clarimón, J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blesa, R. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Landqvist Waldö, M. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, K. (Unit of Geriatric Psychiatry. Department of Clinical Sciences. Lund University) ; Nilsson, C. (Clinical Memory Research Unit. Department of Clinical Sciences. Lund University) ; Mackenzie, I.R.A. (Department of Pathology and Laboratory Medicine. University of British Columbia) ; Hsiung, G.Y.R. (Division of Neurology. University of British Columbia) ; Mann, D.M.A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Grafman, J. (Department of Psychology. Weinberg College of Arts and Sciences. Northwestern University) ; Morris, C.M. (Institute of Neuroscience. Newcastle University Medical School) ; Attems, J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Griffiths, T.D. (Institute of Neuroscience. Newcastle University Medical School) ; McKeith, I.G. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Thomas, A.J. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Pietrini, P. (IMT School for Advanced Studies. Lucca) ; Huey, E.D. (Taub Institute. Departments of Psychiatry and Neurology. Columbia University) ; Wassermann, E.M. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Baborie, A. (Department of Laboratory Medicine & Pathology. University of Alberta Edmonton) ; Jaros, E. (Institute of Neuroscience and Institute for Ageing. Campus for Ageing and Vitality. Newcastle University) ; Tierney, M.C. (Behavioral Neurology Unit. National Insititute of Neurological Disorders and Stroke. National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, C. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Ortega-Cubero, S. (Neurogenetics Laboratory. Division of Neurosciences. Center for Applied Medical Research. Universidad de Navarra) ; Alonso, E. (Department of Neurology. Clínica Universidad de Navarra. University of Navarra School of Medicine) ; Perneczky, R. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Diehl-Schmid, J. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Alexopoulos, P. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Kurz, A. (Department of Psychiatry and Psychotherapy. Technische Universität München) ; Rainero, I. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rubino, E. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Pinessi, L. (Neurology I. Department of Neuroscience. University of Torino. Italy. A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, E. (Tanz Centre for Research in Neurodegenerative Diseases. University of Toronto) ; St George-Hyslop, P. (Cambridge Institute for Medical Research. and the Department of Clinical Neurosciences. University of Cambridge) ; Rossi, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, F. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, G. (Division of Neurology and Neuropathology. Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, J.B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, J.C.M. (University of California San Diego. Department of Cellular & Molecular Medicine) ; Uphill, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Collinge, J. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Mead, S. (UCL Institute of Neurology (Regne Unit). Department of Neurodegenerative Disease) ; Danek, A. (Ludwig-Maximilians-Universität München) ; Van Deerlin, V.M. (Department of Pathology and Laboratory Medicine. University of Pennsylvania Perelman School of Medicine) ; Grossman, M. (Department of Neurology and Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ; Trojanowski, J.Q. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; van der Zee, J. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cruts, M. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Van Broeckhoven, C. (Laboratory of Neurogenetics. Institute Born-Bunge. University of Antwerp) ; Cappa, S.F. (Neurorehabilitation Unit. Department of Clinical Neuroscience. Vita-Salute University and San Raffaele Scientific Institute) ; Leber, I. (CNRS UMR 7225. F-75013) ; Hannequin, D. (Service de Neurologie. Inserm U1079. CNR-MAJ. Rouen University Hospital) ; Golfier, V. (Service de Neurologie. CH Saint Brieuc) ; Vercelletto, M. (Service de neurologie. CHU de Nantes) ; Brice, A. (CNRS UMR 7225. F-75013) ; Nacmias, B. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Sorbi, Sandro (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Bagnoli, Silvia (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Piaceri, I. (Department of Neurosciences. Psychology. Drug Research and Child Health (NEUROFARBA) University of Florence) ; Nielsen, J.E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Hjermind, L.E. (Department of Cellular and Molecular Medicine. Section of Neurogenetics. The Panum Institute. University of Copenhagen) ; Riemenschneider, M. (Laboratory for Neurogenetics. Saarland University) ; Mayhaus, M. (Laboratory for Neurogenetics. Saarland University) ; Ibach, B. (Department of Psychiatry. Psychotherapy and Psychosomatics) ; Gasparoni, G. (Laboratory for Neurogenetics. Saarland University) ; Pichler, S. (Laboratory for Neurogenetics. Saarland University) ; Gu, W. (Luxembourg Centre For Systems Biomedicine (LCSB). University of Luxembourg) ; Rossor, M.N. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Fox, N.C. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Warren, J.D. (Dementia Research Centre. Department of Neurodegenerative Disease. UCL Institute of Neurology) ; Spillantini, M.G. (Department of Clinical Neurosciences. John Van Geest Brain Repair Centre. Forvie Site. University of Cambridge) ; Morris, H.R. (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Rizzu, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Heutink, P. (Tübingen Site. German Center for Neurodegenerative Diseases) ; Snowden, J.S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Rollinson, Sara (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Richardson, A. (Salford Royal Foundation Trust. Faculty of Medical and Human Sciences. University of Manchester) ; Gerhard, A. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Bruni, A.C. (Regional Neurogenetic Centre. ASPCZ) ; Maletta, R. (Regional Neurogenetic Centre. ASPCZ) ; Frangipane, F. (Regional Neurogenetic Centre. ASPCZ) ; Cupidi, C. (Regional Neurogenetic Centre. ASPCZ) ; Bernardi, L. (Regional Neurogenetic Centre. ASPCZ) ; Anfossi, M. (Regional Neurogenetic Centre. ASPCZ) ; Gallo, M. (Regional Neurogenetic Centre. ASPCZ) ; Conidi, Maria E (Regional Neurogenetic Centre. ASPCZ) ; Smirne, N. (Regional Neurogenetic Centre. ASPCZ) ; Rademakers, R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Baker, M. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Graff-Radford, N.R. (Department of Neuroscience. Mayo Clinic Jacksonville) ; Petersen, R.C. (Department of Neurology. Mayo Clinic Rochester) ; Knopman, D. (Department of Neurology. Mayo Clinic Rochester) ; Josephs, K.A. (Department of Neurology. Mayo Clinic Rochester) ; Boeve, B.F. (Department of Neurology. Mayo Clinic Rochester) ; Parisi, J.E. (Department of Pathology. Mayo Clinic Rochester) ; Karydas, A.M. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; Rosen, H. (Memory and Aging Center. Department of Neurology. University of California. San Francisco) ; van Swieten, J.C. (Department of Medical Genetics. VU university Medical Centre) ; Dopper, E.G.P. (Department of Medical Genetics. VU university Medical Centre) ; Seelaar, H. (Department of Medical Genetics. VU university Medical Centre) ; Pijnenburg, Y.A.L. (VU University Medical Centre. Department of Neurology) ; Scheltens, Philip (VU University Medical Centre. Department of Neurology) ; Logroscino, Giancarlo (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Capozzo, R. (Department of Basic Medical Sciences. Neurosciences and Sense Organs. "Aldo Moro" University of Bari) ; Novelli, V. (Medical Genetics Unit. Fondazione Policlinico Universitario A. Gemelli) ; Puca, A.A. (Department of Medicine and Surgery. University of Salerno) ; Franceschi, M. (Neurology Department. IRCCS Multimedica) ; Postiglione, A. (Department of Clinical Medicine and Surgery. University of Naples Federico II) ; Milan, G. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Sorrentino, P. (Geriatric Center Frullone ASL Napoli 1 Centro) ; Kristiansen, M. (UCL Genomics. Institute of Child Health (ICH). UCL) ; Chiang, H.H. (Karolinska University Hospital) ; Graff, C. (Karolinska University Hospital) ; Pasquier, F. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Rollin, A. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Deramecourt, V. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Lebouvier, T. (Université des Sciences et Technologies de Lille. Inserm 1171. DISTALZ. CHU 59000) ; Kapogiannis, D. (National Institute on Aging (NIA/NIH)) ; Ferrucci, L. (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (Institute of Brain. Behaviour and Mental Health. University of Manchester. Salford Royal Hospital) ; Singleton, A.B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Universitat Autònoma de Barcelona
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). [...]
2019 - 10.1038/s41598-019-46415-1
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 10854  
6.
6 p, 820.8 KB Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease / Dalmasso, M.C. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Brusco, L.I. (Hospital Interzonal General de Agudos Eva Perón) ; Olivar, N. (Departamento Ciencias Fisiológicas UAII. Facultad de Medicina. UBA. C.A.B.A) ; Muchnik, C. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Hanses, C. (Department of Psychiatry and Psychotherapy. University of Bonn) ; Milz, E. (Division of Neurogenetics and Molecular Psychiatry. Department of Psychiatry and Psychotherapy. University of Cologne) ; Becker, J. (Department of Psychiatry and Psychotherapy. University of Bonn) ; Heilmann-Heimbach, S. (Department of Genomics. Life & Brain Center. University of Bonn) ; Hoffmann, Per (University Hospital Basel (Basilea, Suïssa)) ; Prestia, F.A. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Galeano, P. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Avalos, M.S.S. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ; Martinez, L.E. (Hospital Interzonal General de Agudos Eva Perón) ; Carulla, M.E. (Hospital Interzonal General de Agudos Eva Perón) ; Azurmendi, P.J. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Liberczuk, C. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Fezza, C. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Sampaño, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Fierens, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Jemar, G. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Solis, P. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Medel, N. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Lisso, J. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Sevillano, Z. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Bosco, P. (IRCCS Associazione Oasi Maria Santissima Srl (Itàlia)) ; Bossù, P. (Department of Clinical and Behavioural Neurology. Experimental Neuropsychobiology Laboratory) ; Spalletta, G. (Department of Clinical and Behavioural Neurology. Neuropsychiatry Laboratory. IRCCS Santa Lucia Foundation) ; Galimberti, D. (Neurodegenerative Diseases Center. University of Milan. Centro Dino Ferrari. Fondazione Ca' Granda. IRCCS Ospedale Maggiore Policlinico) ; Mancuso, M. (Department of Experimental and Clinical Medicine. Neurological Institute. University of Pisa) ; Nacmias, B. (NEUROFARBA (Department of Neuroscience. Psychology. Drug Research and Child Health). University of Florence) ; Sorbi, Sandro (IRCCS 'Don Carlo Gnocchi') ; Mecocci, Patrizia (Section of Gerontology and Geriatrics. Department of Medicine. University of Perugia) ; Pilotto, A. (Geriatric Unit and Gerontology-Geriatrics Research Laboratory. Department of Medical Sciences. IRCCS Casa Sollievo della Sofferenza) ; Caffarra, P. (Alzheimer Center. FERB) ; Panza, F. (Neurodegenerative Disease Unit. Department of Basic Medicine. Neuroscience. and Sense Organs. University of Bari Aldo Moro) ; Bullido, M. (Centro de Biología Molecular Severo Ochoa (CSIC-UAM)) ; Clarimon, J. (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Juan, P. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Coto, Eliecer (Molecular Genetics Laboratory-Hospital. University of Central Asturias) ; Sanchez-Garcia, F. (Hospital Universitario de Gran Canaria Dr. Negrín) ; Graff, C. (Karolinska Institutet (Estocolm, Suècia). Division of Neurogeriatrics) ; Ingelsson, M. (Department of Public Health/Geriatrics. Uppsala University) ; Bellenguez, C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ; Castaño, E.M. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Kairiyama, C. (Hospital Interzonal General de Agudos Eva Perón) ; Politis, D.G. (Hospital Interzonal General de Agudos Eva Perón) ; Kochen, S. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Scaro, H. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ; Maier, Wolfgang (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ; Jessen, F. (Department of Psychiatry and Psychotherapy. University of Cologne) ; Mangone, C.A. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Lambert, J.C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ; Morelli, Laura (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Ramirez, A. (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ; Universitat Autònoma de Barcelona
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. [...]
2019 - 10.1038/s41398-019-0394-9
Translational psychiatry, Vol. 9 Núm. 1 (january 2019) , p. 55  
7.
13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; de Mendonça, Alexandre (University of Lisbon, Portugal) ; Martins, Madalena (University of Lisbon, Portugal) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ; Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ; Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Santana, Isabel (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter (Institute Born-Bunge, University of Antwerp, Belgium) ; Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ; Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ; Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487  
8.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas García, Ricard (Universitat Autònoma de Barcelona) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University-Sofia) ; Sarafov, Stayko (Medical University-Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger-Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (University Hospital Antwerp (Bèlgica)) ; Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ; Smets, Katrien (University Hospital Antwerp (Bèlgica)) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; Bleecker, Jan De (Universitair Ziekenhuis Gent) ; Santens, Patrick (Universitair Ziekenhuis Gent) ; Dermaut, Bart (Universitair Ziekenhuis Gent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint-Luc University Hospital) ; Deryck, Olivier (General Hospital Sint-Jan Brugge) ; Bergmans, Bruno (General Hospital Sint-Jan Brugge) ; Delbeck, Jean (General Hospital Sint-Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona) ; Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  
9.
10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Chiang, Huei-Hsin (Karolinska University Hospital) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega-Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimón, Jordi (Universitat Autònoma de Barcelona) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ; Fortea, Juan (Universitat Autònoma de Barcelona) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human mutation, Vol. 36 (october 2015) , p. 1226-1235  

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