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Articles, 31 records found
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Articles 31 records found  1 - 10nextend  jump to record:
1.
8 p, 15.2 MB Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer's disease in adults with Down syndrome / Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Karikari, Thomas K. (University of Gothenburg.) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Ashton, Nicholas J. (NIHR Biomedical Research Centre for Mental Health and Biomedical Research Unit for Dementia at South London and Maudsley NHS Foundation) ; Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Lantero-Rodríguez, Juan (University of Gothenburg) ; Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ; Benejam, Bessy (Institut d'Investigació Biomèdica Sant Pau) ; Fernandez, Susana (Fundació Catalana de Síndrome de Down) ; Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ; Garzón, Diana (Institut d'Investigació Biomèdica Sant Pau) ; Bejanin, Alexandre (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ; Camacho, Valle (Institut d'Investigació Biomèdica Sant Pau) ; Medrano-Martorell, Santiago (Hospital del Mar (Barcelona, Catalunya)) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lehmann, Sylvain (Université de Montpellier) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Blennow, Kaj (Sahlgrenska University Hospital) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
Plasma tau phosphorylated at threonine 181 (p-tau181) predicts Alzheimer's disease (AD) pathology with high accuracy in the general population. In this study, we investigated plasma p-tau181 as a biomarker of AD in individuals with Down syndrome (DS). [...]
2021 - 10.1038/s41467-021-24319-x
Nature communications, Vol. 12 (july 2021)  
2.
18 p, 2.0 MB A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics / Nicolas, Gaël (Normandie University) ; Sévigny, Myriam (Laval University) ; Lecoquierre, François (Normandie University) ; Marguet, Florent (Normandie University) ; Deschênes, Andréanne (Laval University) ; del Pelaez, Maria Carment (Laval University) ; Feuillette, Sébastien (Normandie University) ; Audebrand, Anaïs (Laval University) ; Lecourtois, Magalie (Normandie University) ; Rousseau, Stéphane (Normandie University) ; Richard, Anne-Claire (Normandie University) ; Cassinari, Kévin (Normandie University) ; Deramecourt, Vincent (University of Lille) ; Duyckaerts, Charles (Hôpital de la Pitié-Salpêtrière) ; Boland, Anne (Université Paris-Saclay) ; Deleuze, Jean-François (Université Paris-Saclay) ; Meyer, Vincent (Université Paris-Saclay) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Gelpi, Ellen (Medical University of Vienna) ; Akiyama, Haruhiko (Tokyo Metropolitan Institute of Medical Science) ; Hasegawa, Masato (Tokyo Metropolitan Institute of Medical Science) ; Kawakami, Ito (Tokyo Metropolitan Institute of Medical Science) ; Wong, Tsz H. (Erasmus Medical Center) ; Van Rooij, Jeroen G. J. (Erasmus Medical Center) ; Van Swieten, John C. (Erasmus Medical Center) ; Campion, Dominique (Normandie University) ; Dutchak, Paul A. (Laval University) ; Wallon, David (Normandie University) ; Lavoie-Cardinal, Flavie (Laval University) ; Laquerrière, Annie (Normandie University) ; Rovelet-Lecrux, Anne (Normandie University) ; Sephton, Chantelle F. (Laval University) ; Universitat Autònoma de Barcelona
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem‑poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). [...]
2022 - 10.1186/s40478-022-01314-x
Acta neuropathologica communications, Vol. 10 (february 2022)  
3.
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 (Copenhagen University Hospital Rigshospitalet) ; 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)  
4.
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) ; Clarimón, 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)  
5.
8 p, 1.3 MB Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders / Delaby, Constance (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Morenas-Rodríguez, E. (Institut d'Investigació Biomèdica Sant Pau) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Altuna, M. (Institut d'Investigació Biomèdica Sant Pau) ; Estellés, T. (Institut d'Investigació Biomèdica Sant Pau) ; Santos-Santos, M. (Institut d'Investigació Biomèdica Sant Pau) ; Turon-Sans, J. (Institut d'Investigació Biomèdica Sant Pau) ; Muñoz, L. (Institut d'Investigació Biomèdica Sant Pau) ; Ribosa-Nogué, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Sala-Matavera, I. (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Saudinós, María Belén (Institut d'Investigació Biomèdica Sant Pau) ; Subirana, A. (Institut d'Investigació Biomèdica Sant Pau) ; Videla, L. (Institut d'Investigació Biomèdica Sant Pau) ; Benejam, Bessy (Institut d'Investigació Biomèdica Sant Pau) ; Sirisi Dolcet, Sonia (Institut d'Investigació Biomèdica Sant Pau) ; Lehmann, S. (Université de Montpellier) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. [...]
2020 - 10.1038/s41598-020-66090-x
Scientific reports (Nature Publishing Group), Vol. 10 (june 2020)  
6.
10 p, 1.5 MB VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome / Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Fernández, Susana (Institut d'Investigació Biomèdica Sant Pau) ; Benejam, Bessy (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ; Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ; Xiao, Mei-Fang (Johns Hopkins University School of Medicine. Solomon H. Snyder Department of Neuroscience) ; Xu, Desheng (Johns Hopkins University School of Medicine. Solomon H. Snyder Department of Neuroscience) ; Núñez-Llaves, Raúl (Institut d'Investigació Biomèdica Sant Pau) ; Querol-Vilaseca, Marta (Institut d'Investigació Biomèdica Sant Pau) ; Sirisi Dolcet, Sonia (Institut d'Investigació Biomèdica Sant Pau) ; Bejanin, Alexandre (Institut d'Investigació Biomèdica Sant Pau) ; Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Worley, Paul (Johns Hopkins University School of Medicine. Department of Neurology) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
There is an urgent need for objective markers of Alzheimer's disease (AD)-related cognitive impairment in people with Down syndrome (DS) to improve diagnosis, monitor disease progression, and assess response to disease-modifying therapies. [...]
2021 - 10.1186/s13195-021-00861-0
Alzheimer's research & therapy, Vol. 13 (june 2021)  
7.
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  
8.
14 p, 1.2 MB Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration / Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Falgàs, Neus (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Friedberg, Adit (University of California. Department of Neurology) ; Castro-Suárez, Sheila (University of California. Department of Neurology) ; Keret, Ophir (University of California. Department of Neurology) ; Rogers, Nicole (University of California. Department of Neurology) ; Oz, Didem (University of California. Department of Neurology) ; Nigro, Salvatore (Magna Graecia University (Catanzaro, Itàlia). Neuroscience Centre) ; Quattrone, Andrea (Magna Graecia University (Catanzaro, Itàlia). Institute of Neurology) ; Quattrone, Aldo (Institute of Molecular Bioimaging and Physiology (Catanzaro, Itàlia)) ; Wolf, Amy (University of California. Department of Neurology) ; Younes, Kyan (University of California. Department of Neurology) ; Santos-Santos, Miguel (Institut d'Investigació Biomèdica Sant Pau) ; Borrego-Écija, Sergi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Cobigo, Yann (University of California. Department of Neurology) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Sánchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Grinberg, Lea T. (University of California. Department of Neurology) ; Spina, Salvatore (University of California. Department of Neurology) ; Kramer, Joel H. (University of California. Department of Neurology) ; Rabinovici, Gil D. (University of California. Department of Neurology) ; Boxer, Adam (University of California. Department of Neurology) ; Gorno Tempini, Maria Luisa (University of California. Department of Neurology) ; Miller, Bruce L. (University of California. Department of Neurology) ; Seeley, William W. (University of California. Department of Neurology) ; Rosen, Howard J. (University of California. Department of Neurology) ; Perry, David C. (University of California. Department of Neurology) ; Universitat Autònoma de Barcelona
Can widely available measures of atrophy on magnetic resonance imaging increase diagnostic certainty of underlying frontotemporal lobar degeneration (FTLD) and estimate clinical deterioration in the behavioral variant of frontotemporal dementia (bvFTD)? This diagnostic/prognostic study investigated the clinical utility of 5 validated visual atrophy scales (VAS) and the Magnetic Resonance Parkinsonism Index. [...]
2021 - 10.1001/jamanetworkopen.2021.1290
JAMA network open, Vol. 4 (march 2021)  
9.
12 p, 2.7 MB Long runs of homozygosity are associated with Alzheimer's disease / Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ; de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; García-González, Pablo (Institut Català de Neurociènces Aplicades) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Farias, Fabiana (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Budde, John P. (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Quintela, Inés (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Madrid, Laura (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; González-Pérez, Antonio (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Montrreal, Laura (Institut Català de Neurociènces Aplicades) ; Alarcón-Martín, Emilio (Institut Català de Neurociènces Aplicades) ; Alegret, Montserrat (Institut Català de Neurociènces Aplicades) ; Maroñas, Olalla (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Pineda, Juan Antonio (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Macías, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Valero, Sergi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Benaque, Alba (Institut Català de Neurociènces Aplicades) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bullido, María J (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Sánchez-Juan, Pascual (Universidad de Cantabria) ; Álvarez, Victoria (Instituto de Investigación Biosanitaria del Principado de Asturias-ISPA (Oviedo)) ; Piñol-Ripoll, Gerard (Institut de Recerca Biomèdica de Lleida) ; García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ; Royo, José Luis (Universidad de Málaga. Facultad de Medicina) ; Franco-Macías, Emilio (Instituto de Biomedicina de Sevilla) ; Mir, Pablo (Instituto de Biomedicina de Sevilla) ; Calero, Miguel (Instituto de Salud Carlos III) ; Medina, Miguel (Queen Sofia Foundation Alzheimer Center) ; Rábano, Alberto (BT-CIEN (Madrid)) ; Ávila, Jesús (Centro de Biología Molecular "Severo Ochoa" (CBMSO)) ; Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Real, Luis M (Universidad de Málaga. Facultad de Medicina) ; Orellana, Adelina (Institut Català de Neurociènces Aplicades) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. [...]
2021 - 10.1038/s41398-020-01145-1
Translational psychiatry, Vol. 11 (february 2021)  
10.
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  

Articles : 31 records found   1 - 10nextend  jump to record:
Research literature 1 records found  
1.
161 p, 4.2 MB Assessing the role of copy number variations, mitochondrial DNA and microRNAs in neurodegenerative disorders / Cervera Carles, Laura ; Clarimón Echavarria, Jordi, dir. ; Lleó Bisa, Alberto, dir. ; Universitat Autònoma de Barcelona. Institut de Neurociències
Les malalties neurodegeneratives són patologies complexes i progressives que afecten milions de persones a tot el món. Entre d'altres, la malaltia d'Alzheimer (MA), la malaltia de Parkinson (MP) i la demència frontotemporal (DFT) són les tres condicions més prevalents. [...]
Neurodegenerative diseases are complex and progressive disorders that affect millions of people worldwide. Among them, Alzheimer's disease (AD), Parkinson's disease (PD) and frontotemporal dementia (FTD) are three of the most prevalent. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2019.  

See also: similar author names
11 Clarimon, J.
39 Clarimon, Jordi
11 Clarimón, J.
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