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Correction : Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia
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Zhu, Nuole (Institut d'Investigació Biomèdica Sant Pau) ;
Santos-Santos, Miguel (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ;
Estellés, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ;
Arranz, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Muñoz, Laia (Institut d'Investigació Biomèdica Sant Pau) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Sala, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Sánchez-Saudinós, María Belén (Institut d'Investigació Biomèdica Sant Pau) ;
Subirana, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Astrocytes play an essential role in neuroinflammation and are involved in the pathogenesis of neurodenegerative diseases. Studies of glial fibrillary acidic protein (GFAP), an astrocytic damage marker, may help advance our understanding of different neurodegenerative diseases. [...]
2023 -  10.1186/s40035-023-00351-3
Translational Neurodegeneration, Vol. 12 (may 2023)
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16 p, 1.4 MB |
Association of biological sex with clinical outcomes and biomarkers of Alzheimer's disease in adults with Down syndrome
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Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ;
Bejanin, Alexandre (Institut d'Investigació Biomèdica Sant Pau) ;
Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Benejam, Bessy ;
Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández, Susana (Institut d'Investigació Biomèdica Sant Pau) ;
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ;
Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ;
Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ;
Giménez, Sandra (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
González-Ortiz, Sofía (Hospital del Mar (Barcelona, Catalunya)) ;
Torres Alcalá, Soraya (Institut d'Investigació Biomèdica Sant Pau) ;
El Bounasri El Bennadi, Shaimaa (Institut d'Investigació Biomèdica Sant Pau) ;
Padilla, Concepción (Institut d'Investigació Biomèdica Sant Pau) ;
Aranha, Mateus (Institut d'Investigació Biomèdica Sant Pau) ;
Estellés, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Valle-Tamayo, Natalia (Institut d'Investigació Biomèdica Sant Pau) ;
Camacho, Valle (Hospital del Mar (Barcelona, Catalunya)) ;
Blessing, Esther ;
Osorio, Ricardo S ;
Videla, Sebastián (Hospital Universitari de Bellvitge) ;
Lehmann, Sylvain ;
Holland, Anthony J. ;
Zetterberg, Henrik ;
Blennow, Kaj ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Zaman, Shahid ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The study of sex differences in Alzheimer's disease is increasingly recognized as a key priority in research and clinical development. People with Down syndrome represent the largest population with a genetic link to Alzheimer's disease (>90% in the 7th decade). [...]
2023 - 10.1093/braincomms/fcad074
Brain Communications, Vol. 5 (march 2023)
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2 p, 2.0 MB |
Author Correction : Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
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De Rojas, Itziar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Moreno-Grau, Sonia (Institut Català de Neurociències Aplicades) ;
Tesi, Niccolo (Delft Univeristy of Technology) ;
Grenier-Boley, Benjamin (Institut Pasteur de Lille) ;
Andrade, Victor (University Clinic Bonn) ;
Jansen, Iris E. (VU University) ;
Pedersen, Nancy L. (Karolinska Institutet (Estocolm, Suècia)) ;
Stringa, Najada (Amsterdam Public Health Research Institute) ;
Zettergren, Anna (University of Gothenburg) ;
Hernández, Isabel (Institut Català de Neurociències Aplicades) ;
Montrreal, Laura (Institut Català de Neurociències Aplicades) ;
Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca) ;
Antonell, Anna (Hospital Clínic i Provincial 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) ;
Calero, Miguel (Fundación Reina Sofía) ;
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 (IRBLLeida)) ;
Baquero, Miquel (Hospital Universitari i Politècnic La Fe) ;
Diez-Fairen, Monica (Hospital Universitari Mutua de Terrassa) ;
Lage, Carmen (Hospital Universitario Marqués de Valdecilla) ;
García-Madrona, Sebastián (Hospital Universitario Ramón y Cajal (Madrid)) ;
García-González, Pablo (Institut Català de Neurociències Aplicades) ;
Alarcón-Martín, Emilio (Institut Català de Neurociències Aplicades) ;
Valero, Sergi (Institut Català de Neurociències Aplicades) ;
Sotolongo Grau, Oscar (Institut Català de Neurociències Aplicades) ;
Ullgren, Abbe (Karolinska University Hospital-Solna) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam) ;
Benaque, Alba (Institut Català de Neurociències Aplicades) ;
Pérez-Cordón, Alba (Institut Català de Neurociències Aplicades) ;
Benussi, Alberto (University of Brescia) ;
Rábano, Alberto (BT-CIEN) ;
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 (IRBLLeida)) ;
Kok, Almar A. L. (Amsterdam Public Health Research Institute) ;
Meggy, Alun (Cardiff University) ;
Pastor, Ana Belén (BT-CIEN) ;
Espinosa, Ana (Institut Català de Neurociències Aplicades) ;
Corma-Gómez, Anaïs (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Martín Montes, Angel (Hospital Universitario La Paz) ;
Sanabria, Ángela (Institut Català de Neurociències Aplicades) ;
DeStefano, Anita L. (Boston University School of Public Health) ;
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 (Hospital Clínico San Carlos) ;
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 Miller School of Medicine) ;
Charbonnier, Camille (Normandie Univ) ;
Abdelnour, Carla (Institut Català de Neurociències Aplicades) ;
Masullo, Carlo (Catholic University of the Sacred Heart) ;
Martínez Rodríguez, Carmen (Hospital Universitario de Cabueñes (Gijón)) ;
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 (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 (Instituto de Biomedicina de Sevilla) ;
Aarsland, Dag (Stavanger University Hospital) ;
Rujescu, Dan (Martin-Luther-University Halle-Wittenberg) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Galimberti, Daniela (Ospedale Policlinico) ;
Wallon, David (Normandie Univ) ;
Seripa, Davide (Complex Structure of Geriatrics) ;
Grünblatt, Edna (University of Zurich) ;
Dardiotis, Efthimios (University of Thessaly) ;
Düzel, Emrah (Otto-von-Guericke University) ;
Scarpini, Elio (Ospedale Policlinico) ;
Conti, Elisa (University of Milano-Bicocca and Milan Center for Neuroscience) ;
Rubino, Elisa (AOU Città della Salute e della Scienza di Torino) ;
Gelpi, Ellen (Medical University of Vienna) ;
Rodríguez-Rodríguez, Eloy (Hospital Universitario Marqués de Valdecilla) ;
Duron, Emmanuelle (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) ;
Sanchez-Garcia, Florentino (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Mangialasche, Francesca (Karolinska Institutet) ;
Jessen, Frank (University of Cologne) ;
Nicolas, Gaël (Hospital Universitario de Cabueñes (Gijón)) ;
Selbæk, Geir (University of Oslo) ;
Ortega, Gemma (Institut Català de Neurociències Aplicades) ;
Chêne, Geneviève (CHU de Bordeaux) ;
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 (Sorbonne University) ;
Bailly, Henri (Université Paris Descartes) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Soininen, Hilkka (Kuopio University Hospital) ;
Karlsson, Ida K. (Jönköping University) ;
Alvarez, Ignacio (Hospital Universitari Mutua de Terrassa) ;
Appollonio, Ildebrando (Ospedale San Gerardo (Itàlia)) ;
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-Sébastien (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 (University Hospital of Lausanne) ;
Deckert, Jürgen (University Hospital) ;
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 (Hospital Clínic i Provincial de Barcelona) ;
Kilander, Lena (Uppsala) ;
Weinhold, Leonie (University Hospital of Bonn) ;
Farrer, Lindsay A. (Boston University Schools of Medicine and Public Health) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine) ;
Kleineidam, Luca (University Clinic Bonn) ;
Farotti, Lucia (University of Perugia) ;
Parnetti, Lucilla (University of Perugia) ;
Tremolizzo, Lucio (Ospedale San Gerardo (Itàlia)) ;
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 (1st Department of Neurology Aristotle University of Thessaloniki) ;
Rosende-Roca, Maitée (Institut Català de Neurociències Aplicades) ;
Löwenmark, Malin (Uppsala) ;
Hulsman, Marc (Vrije Universiteit Amsterdam) ;
Spallazzi, Marco (Azienda Ospedaliero-Universitaria) ;
Pericak-Vance, Margaret A (University of Miami Miller School of Medicine) ;
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 (Hospital Clínico San Carlos) ;
Arcaro, Marina (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 (SyNergy)) ;
Ingelsson, Martin (Uppsala) ;
Herrmann, Martin J. (University Hospital) ;
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 (DZNE)) ;
Heneka, Michael T. (German Center for Neurodegenerative Diseases (DZNE)) ;
Wagner, Michael (German Center for Neurodegenerative Diseases (DZNE)) ;
Scamosci, Michela (University of Perugia) ;
Kivipelto, Miia (Stockholms Sjukhem) ;
Hiltunen, Mikko (University of Eastern Finland) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Alegret, Montserrat (Institut Català de Neurociències Aplicades) ;
Fornage, Myriam (University of Texas Health Sciences Center at Houston) ;
Roberto, Natalia (Institut Català de Neurociències Aplicades) ;
van Schoor, Natasja M. (Amsterdam Public Health Research Institute) ;
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, Olivier (Université Paris Descartes) ;
Peters, Oliver (German Center for Neurodegenerative Diseases) ;
Skrobot, Olivia Anna (Southmead Hospital) ;
Quenez, Olivier (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) ;
Mecocci, Patrizia (University of Perugia) ;
Hoffmann, Per (University Hospital Basel) ;
Holmans, Peter (Cardiff University) ;
Fischer, Peter (Social Medicine Center East- Donauspital) ;
Riederer, Peter (University Hospital of Würzburg) ;
Yang, Qiong (Boston University School of Public Health) ;
Marshall, Rachel (Cardiff University) ;
Kalaria, Rajesh N. (Campus for Ageing anf Vitality) ;
Mayeux, Richard (Columbia University) ;
Vandenberghe, Rik (University Hospitals Leuven) ;
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 (Estocolm, Suècia)) ;
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 (Institut Català de Neurociències Aplicades) ;
Mendoza, Silvia (Instituto Andaluz de Neurociencia) ;
Mead, Simon (Institute of Prion Diseases) ;
Ciccone, Simona (IRCCS Ospedale Maggiore Policlinico) ;
Djurovic, Srdjan (University of Bergen) ;
Heilmann-Heimbach, Stefanie (School of Medicine & University Hospital Bonn) ;
Riedel-Heller, Steffi (University of Leipzig) ;
Kuulasmaa, Teemu (University of Eastern Finland) ;
del Ser, Teodoro (Fundación Reina Sofía) ;
Lebouvier, Thibaud (CHU CNR-MAJ) ;
Polak, Thomas (University Hospital) ;
Ngandu, Tiia (Finnish Institute for Health and Welfare) ;
Grimmer, Timo (Technical University of Munich) ;
Bessi, Valentina (Azienda Ospedaliero-Universitaria Careggi Largo Brambilla) ;
Escott-Price, Valentina (Cardiff University) ;
Giedraitis, Vilmantas (Uppsala) ;
Deramecourt, Vincent (CHU CNR-MAJ) ;
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 (University of Bristol) ;
García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ;
Sánchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla) ;
Pastor, Pau (Hospital Universitari Mutua de Terrassa) ;
Pérez-Tur, Jordi (Instituto de Investigación Sanitaria La Fe) ;
Piñol-Ripoll, Gerard (Institut de Recerca Biomedica de Lleida (IRBLLeida)) ;
Lopez de Munain, Adolfo (Hospital Universitario Donostia) ;
García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ;
Bullido, María J (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Álvarez, Victoria (Hospital Universitario Central de Asturias) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Real, Luis M. (Universidad de Málaga) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Medina, Miguel (Fundación Reina Sofía) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Holstege, Henne (Vrije Universiteit Amsterdam) ;
Marquié, Marta (Institut Català de Neurociències Aplicades) ;
Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine) ;
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 (Hospital Clínic i Provincial de Barcelona) ;
Serrano-Ríos, Manuel (Hospital Clínico San Carlos) ;
Orellana, Adelina (Institut Català de Neurociències Aplicades) ;
Tárraga, Lluís (Institut Català de Neurociències Aplicades) ;
Blennow, Kaj (Sahlgrenska Academy at the University of Gothenburg) ;
Huisman, Martijn A (VU University) ;
Andreassen, Ole A. (Oslo University Hospital (Oslo, Noruega)) ;
Posthuma, Danielle (VU University) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Boada, Mercè (Institut Català de Neurociències Aplicades) ;
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 (National Institute of Health Carlos III) ;
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. [...]
2023 - 10.1038/s41467-023-36192-x
Nature communications, Vol. 14 (february 2023)
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13 p, 2.4 MB |
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Vandrovcova, Jana (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Noyce, Alastair J. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Kaiyrzhanov, Rauan (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ;
Kia, Demis A. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Tan, Manuela (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Morris, Huw R. (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Plun-Favreau, Helen (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Bras, Jose (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Quinn, John (Institute of Translational Medicine. University of Liverpool) ;
Mok, Kin Y. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ;
Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ;
Wood, Nicholas W. (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Lewis, Patrick (University of Reading) ;
Schreglmann, Sebastian (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ;
Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ;
R'Bibo, Lea (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Manzoni, Claudia (University of Reading) ;
Rizig, Mie (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, Viorica (Department of Molecular Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Foltynie, Thomas (Department of Clinical and Movement Neuroscience. Queen Square Institute of Neurology. University College London (UCL)) ;
Williams, Nigel (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Martinez, Maria (INSERM UMR 1220 and Paul Sabatier University) ;
Schulte, Claudia (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Brockmann, Kathrin (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Simón-Sánchez, Javier (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Heutink, Peter (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Rizzu, Patrizia (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Gasser, Thomas (Department for Neurodegenerative Diseases. Hertie Institute for Clinical Brain Research. German Center for Neurodegenerative Diseases. DZNE. German Center for Neurodegenerative Diseases. University of Tübingen) ;
Nicolas, Aude (Laboratory of Neurogenetics. National Institute on Aging) ;
Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ;
Bandres-Ciga, Sara (Laboratory of Neurogenetics. National Institute on Aging) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ;
Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ;
Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ;
Gibbs, J.Raphael (Laboratory of Neurogenetics. National Institute on Aging) ;
Hernandez, Dena G. (Laboratory of Neurogenetics. National Institute on Aging) ;
Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ;
Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, Mike A. (Data Tecnica International) ;
Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ;
Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, Sonja W. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ;
Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ;
Gan-Or, Ziv (McGill University) ;
Rouleau, Guy A. (McGill University) ;
Krohn, Lynne (McGill University) ;
van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ;
Marinus, Johan (Department of Neurology. Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ;
Aguilar Barberà, Miquel (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ;
Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Boungiorno, Maria Teresa (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ;
Carrión-Claro, Mario (Instituto de Biomedicina de Sevilla) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, Monica (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Dols Icardo, Oriol (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, Ciara (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ;
Jesús, Silvia (Instituto de Biomedicina de Sevilla) ;
Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macias, Daniel (Instituto de Biomedicina de Sevilla) ;
Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe de València) ;
Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ;
Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ;
Menéndez González, Manuel (Hospital Universitario Central de Asturias) ;
Mata, Marina (Department of Neurology. Hospital Universitario Infanta Sofía) ;
Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ;
Pagonabarraga Mora, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Pastor, Pau (Fundació Docència I Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ;
Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ;
Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ;
Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, Juan Pablo (Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit. Department of Neurology. University Hospital Mutua de Terrassa) ;
Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ;
Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ;
Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ;
Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ;
Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ;
Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ;
Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ;
Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ;
Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ;
Gagliano Taliun, Sarah A. (Montréal Heart Institute) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Ryten, Mina (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 - 10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076
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18 p, 6.7 MB |
Identification of sixteen novel candidate genes for late onset Parkinson's disease
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Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ;
Noyce, Alastair J. ;
Kaiyrzhanov, Rauan ;
Middlehurst, Ben ;
Kia, Demis A. ;
Tan, Manuela ;
Houlden, Henry ;
Morris, Huw R. ;
Plun-Favreau, Helen ;
Holmans, Peter ;
Hardy, John ;
Trabzuni, Daniah ;
Quinn, John ;
Bubb, Vivien ;
Mok, Kin Y. ;
Kinghorn, Kerri J. ;
Billingsley, Kimberley ;
Wood, Nicholas W. ;
Lewis, Patrick ;
Schreglmann, Sebastian ;
Lovering, Rruth ;
R'Bibo, Lea ;
Manzoni, Claudia ;
Rizig, Mie ;
Ryten, Mina ;
Guelfi, Sebastian ;
Escott-Price, Valentina ;
Chelban, Viorica ;
Foltynie, Thomas ;
Williams, Nigel ;
Morrison, Karen E. ;
Clarke, Carl ;
Brice, Alexis ;
Danjou, Fabrice ;
Lesage, Suzanne ;
Corvol, Jean-Christophe ;
Martinez, Maria ;
Schulte, Claudia ;
Brockmann, Kathrin ;
Simón-Sánchez, Javier ;
Heutink, Peter ;
Rizzu, Patrizia ;
Sharma, Manu ;
Gasser, Thomas ;
Cookson, Mark R. ;
Bandres-Ciga, Sara ;
Blauwendraat, Cornelis ;
Craig, David W. ;
Narendra, Derek ;
Faghri, Faraz ;
Gibbs, J.Raphael ;
Hernandez, Dena G. ;
Van Keuren-Jensen, Kendall ;
Shulman, Joshua M. ;
Iwaki, Hirotaka ;
Leonard, Hampton L. ;
Nalls, Mike A. ;
Robak, Laurie ;
Bras, Jose ;
Guerreiro, Rita ;
Lubbe, Steven ;
Finkbeiner, Steven ;
Mencacci, Niccolo E. ;
Lungu, Codrin ;
Singleton, Andrew B. ;
Scholz, Sonja W. ;
Reed, Xylena ;
Alcalay, Roy N. ;
Gan-Or, Zin ;
Rouleau, Guy A. ;
Krohn, Lynne ;
van Hilten, Jacobus J. ;
Marinus, Johan ;
Adarmes-Gómez, A.D ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria ;
Barrero, Francisco Javier ;
Bergareche Yarza, Jesús Alberto ;
Bernal-Bernal, Inmaculada ;
Blázquez Estrada, Marta ;
Bonilla-Toribio, Marta ;
Botía, Juan A. ;
Boungiorno, María Teresa ;
Buiza-Rueda, Dolores ;
Carrillo, Fátima ;
Carrión-Claro, M ;
Cerdan, Debora ;
Clarimón, Jordi ;
Compta, Yaroslau ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol ;
Duarte, Jacinto ;
Duran, Raquel ;
Escamilla Sevilla, Francisco ;
Ezquerra, Mario ;
Feliz, Cici ;
Fernández, Manel ;
Fernández-Santiago, Rubén ;
Garcia, Ciara ;
García-Ruiz, Pedro ;
Gómez-Garre, Pilar ;
Gomez Heredia, Maria Jose ;
Gonzalez-Aramburu, Isabel ;
Gorostidi Pagola, Ana ;
Hoenicka, Janet ;
Infante, Jon ;
Jesús, Silvia ;
Jimenez-Escrig, Adriano ;
Kulisevsky, Jaime (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Labrador-Espinosa, Miguel A. ;
Lopez-Sendon, Jose Luis ;
López de Munain Arregui, Adolfo ;
Macias, Daniel ;
Martínez Torres, Irene ;
Marín, Juan ;
Marti, Maria Jose ;
Martínez-Castrillo, Juan Carlos ;
Méndez-del-Barrio, Carlota ;
Menéndez González, Manuel ;
Mata, Marina ;
Mínguez, Adolfo ;
Mir, Pablo ;
Mondragon Rezola, Elisabet ;
Muñoz, Esteban ;
Pagonabarraga Mora, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Pastor, Pau ;
Perez Errazquin, Francisco ;
Periñán-Tocino, Teresa ;
Ruiz-Martínez, Javier ;
Ruz, Clara ;
Sanchez Rodriguez, Antonio ;
Sierra, María ;
Suarez-Sanmartin, Esther ;
Tabernero, Cesar ;
Tartari, Juan Pablo ;
Tejera-Parrado, Cristina ;
Tolosa, Eduard ;
Valldeoriola, Francesc ;
Vargas-González, Laura ;
Vela, Lydia ;
Vives, Francisco ;
Zimprich, Alexander ;
Pihlstrom, Lasse ;
Toft, Mathias ;
Koks, Sulev ;
Taba, Pille ;
Hassin-Baer, Sharon ;
Majamaa, Kari ;
Siitonen, Ari ;
Okubadejo, Njideka U. ;
Ojo, Oluwadamilola O. ;
Kaiyrzhanov, Rauan ;
Shashkin, Chingiz ;
Zharkynbekova, Nazira ;
Akhmetzhanov, Vadim ;
Aitkulova, Akbota ;
Zholdybayeva, Elena ;
Zharmukhanov, Zharkyn ;
Kaishybayeva, Gulnaz ;
Karimova, Altynay ;
Sadykova, Dinara ;
Iacoviello, Licia (Research Center in Epidemiology and Preventive Medicine (EPIMED). Department of Medicine and Surgery. University of Insubria) ;
Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 - 10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35
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11 p, 1.6 MB |
Association of Apolipoprotein e ϵ4 Allele with Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults with down Syndrome
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Bejanin, Alexandre (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ;
Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Benejam, Bessy (Barcelona Down Medical Center. Fundació Catalana Síndrome de Down) ;
Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Fernandez, S. (Universitat Autònoma de Barcelona) ;
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ;
Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ;
Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ;
Giménez, Sandra (Institut d'Investigació Biomèdica Sant Pau) ;
González-Ortiz, Sofía (Hospital del Mar (Barcelona, Catalunya)) ;
Muñoz, Laia (Institut d'Investigació Biomèdica Sant Pau) ;
Padilla, Concepción (Institut d'Investigació Biomèdica Sant Pau) ;
Aranha, Mateus (Institut d'Investigació Biomèdica Sant Pau) ;
Estellés, T. (Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED)) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Camacho, Valle (Institut d'Investigació Biomèdica Sant Pau) ;
Wilson, L.R. (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ;
Annus, Tiina (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ;
Osorio, R.S. (Healthy Brain Aging and Sleep Center. Department of Psychiatry. New York University. Grossman School of Medicine) ;
Videla, S. (Institut d'Investigació Biomèdica de Bellvitge) ;
Lehmann, S. (Le Laboratoire de Biochimie et Protéomique Clinique. Université Montpellier. Centre Hospitalier Universitaire Montpellier. Institut National de la Santé et de la Recherche Médicale) ;
Holland, Anthony (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ;
Zetterberg, Henrik (Department of Neurodegenerative Disease. UCL Queen Square Institute of Neurology) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Zaman, S.H. (Cambridgeshire and Peterborough National Health Service (NHS) Foundation Trust. Fulbourn Hospital. Elizabeth House) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Importance: Alzheimer disease (AD) is the leading cause of death in individuals with Down syndrome (DS). Previous studies have suggested that the APOE ϵ4 allele plays a role in the risk and age at onset of dementia in DS; however, data on in vivo biomarkers remain scarce. [...]
2021 - 10.1001/jamaneurol.2021.1893
JAMA Neurology, Vol. 78 Núm. 8 (august 2021) , p. 937-947
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23 p, 7.9 MB |
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
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Holstege, Henne (Delft Bioinformatics Lab, Delft University of Technology) ;
Hulsman, Marc (Delft Bioinformatics Lab, Delft University of Technology) ;
Charbonnier, Camille (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grenier-Boley, Benjamin (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Quenez, Olivier (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grozeva, Detelina (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
van Rooij, Jeroen G. J. (Erasmus Medical Centre. Department of Internal Medicine) ;
Sims, Rebecca (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Ahmad, Shahzad (Leiden Academic Centre for Drug Research) ;
Amin, Najaf (Nuffield Department of Population Health Oxford University) ;
Norsworthy, Penny J. (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Dols Icardo, Oriol (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Hummerich, Holger (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Kawalia, Amit (Faculty of Medicine and University Hospital Cologne, University of Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy) ;
Amouyel, Philippe (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Beecham, Gary W. (The John P. Hussman Institute for Human Genomics, University of Miami) ;
Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Boland, Anne (Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine Evry) ;
Bossù, Paola (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology) ;
Bouwman, Femke (Amsterdam Neuroscience, Neurodegeneration) ;
Bras, Jose (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Campion, Dominique (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Cochran, J. Nicholas (HudsonAlpha Institute for Biotechnology) ;
Daniele, Antonio (Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico. Department of Neuroscience) ;
Dartigues, Jean-François (Université Bordeaux, INSERM, Bordeaux Population Health Research Center) ;
Debette, Stéphanie (Bordeaux University Hospital. Department of Neurology) ;
Deleuze, Jean-François (Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine Evry) ;
Denning, Nicola (Cardiff University. UKDRI Cardiff, School of Medicine) ;
DeStefano, Anita L. (Boston University School of Medicine. Department of Neurology) ;
Farrer, Lindsay A. (Boston University. Department of Medicine (Biomedical Genetics)) ;
Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Galimberti, Daniela (University of Milan) ;
Genin, Emmanuelle (Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France) ;
Gille, Johan J. P. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Le Guen, Yann (Stanford University. Department of Neurology and Neurological Sciences) ;
Guerreiro, Rita (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Haines, Jonathan L. (Case Western Reserve University. Department of Epidemiology and Biostatistics) ;
Holmes, Clive (University of Southampton. Clinical and Experimental Science, Faculty of Medicine) ;
Ikram, M. Arfan (Erasmus Medical Centre. Department of Epidemiology) ;
Ikram, M. Kamran (Erasmus Medical Centre. Department of Epidemiology) ;
Jansen, Iris E. (Vrije University. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Kraaij, Robert (Erasmus Medical Centre. Department of Internal Medicine) ;
Lathrop, Marc (McGill University and Genome Quebec Innovation Centre) ;
Lemstra, Afina W. (Amsterdam Neuroscience, Neurodegeneration) ;
Lleó, Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Luckcuck, Lauren (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Mannens, Marcel M. A. M. (University of Amsterdam, Amsterdam Reproduction and Development Research Institute. Department of Human Genetics, Amsterdam UMC) ;
Marshall, Rachel (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Martin, Eden R. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Masullo, Carlo (Institute of Neurology, Catholic University of the Sacred Heart) ;
Mayeux, Richard (Columbia University. Gertrude H. Sergievsky Center) ;
Mecocci, Patrizia (University of Perugia. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery) ;
Meggy, Alun (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ;
Morgan, Kevin (University of Nottingham. Human Genetics, School of Life Sciences) ;
Myers, Richard M. (HudsonAlpha Institute for Biotechnology) ;
Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Napolioni, Valerio (Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino) ;
Pasquier, Florence (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pericak-Vance, Margaret A. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Raybould, Rachel (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Redon, Richard (Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax) ;
Reinders, Marcel J. T. (Delft Bioinformatics Lab, Delft University of Technology) ;
Richard, Anne-Claire (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Riedel-Heller, Steffi G. (Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig) ;
Rivadeneira, Fernando (Erasmus Medical Centre. Department of Internal Medicine) ;
Rousseau, Stéphane (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Ryan, Natalie S. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Saad, Salha (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Sánchez-Juan, Pascual (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Scheltens, Philip (Amsterdam Neuroscience, Neurodegeneration) ;
Schott, Jonathan M. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Seripa, Davide (Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy) ;
Seshadri, Sudha (Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX USA) ;
Sie, Daoud (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sistermans, Erik A. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ;
van Spaendonk, Resie (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Spalletta, Gianfranco (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology) ;
Tesi, Niccolo (Delft Bioinformatics Lab, Delft University of Technology) ;
Tijms, Betty (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Uitterlinden, André G. (Erasmus Medical Centre. Department of Internal Medicine) ;
van der Lee, Sven J. (Delft Bioinformatics Lab, Delft University of Technology) ;
Visser, Pieter Jelle (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Wagner, Michael (German Center for Neurodegenerative Diseases) ;
Wallon, David (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Zarea, Aline (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
van Swieten, John C. (Erasmus Medical Centre. Department of Neurology) ;
Greicius, Michael D. (Stanford University. Department of Neurology and Neurological Sciences) ;
Yokoyama, Jennifer S. (University of California. Memory and Aging Center, Department of Neurology) ;
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Hardy, John (University College London Institute of Neurology. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience) ;
Ramirez, Alfredo (University of Cologne. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
van der Flier, Wiesje M. (Amsterdam Neuroscience, Neurodegeneration) ;
van Duijn, Cornelia M. (Nuffield Department of Population Health Oxford University) ;
Williams, Julie (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Nicolas, Gaël (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Bellenguez, Céline (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Lambert, Jean-Charles (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants . [...]
2022 - 10.1038/s41588-022-01208-7
Nature genetics, Vol. 54 (november 2022) , p. 1786-1794
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8.
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14 p, 1.2 MB |
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
/
Storm, Catherine S. (University College London) ;
Kia, Demis A. (University College London) ;
Almramhi, Mona M. (King Abdulaziz University) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Finan, Chris (University Medical Center Utrecht) ;
Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ;
Middlehurst, B. (University of Liverpool) ;
Tan, M. (University College London) ;
Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ;
Morris, H. R. (University College London) ;
Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Hardy, J. (UCL Institute of Neurology (Regne Unit)) ;
Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ;
Quinn, J. (Institute of Translational Medicine. University of Liverpool) ;
Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ;
Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ;
Kinghorn, K. J. (University College London) ;
Lewis, P. (University of Reading) ;
Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ;
Lovering, R. (University College London) ;
R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ;
Manzoni, C. (University of Reading) ;
Rizig, M. (UCL Institute of Neurology (Regne Unit)) ;
Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ;
Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ;
Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ;
Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ;
Morrison, K. E. (Faculty of Medicine. University of Southampton) ;
Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ;
Harvey, K. (UCL School of Pharmacy) ;
Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ;
Brice, Alexis (Sorbonne Université) ;
Danjou, F. (Sorbonne Université) ;
Lesage, S. (Sorbonne Universités) ;
Corvol, Jean-Christophe (Sorbonne Universités) ;
Martinez, M. (Paul Sabatier University) ;
Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ;
Brockmann, K. (DZNE. German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (University of Tübingen) ;
Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ;
Sharma, M. (University of Tubingen) ;
Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ;
Schneider, S. A. (udwig-Maximilians-University Munich) ;
Cookson, M. R. (Laboratory of Neurogenetics. National Institute on Aging) ;
Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ;
Craig, David W (University of Southern California) ;
Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ;
Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ;
Faghri, F. (University of Illinois at Urbana-Champaign) ;
Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ;
Shulman, J. M. (Texas Children's Hospital) ;
Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ;
Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, M. A. (CEO/Consultant Data Tecnica International) ;
Robak, L. (Baylor College of Medicine) ;
Bras, J. (Van Andel Research Institute) ;
Guerreiro, Rita (Van Andel Research Institute) ;
Lubbe, S. (Northwestern University Feinberg School of Medicine) ;
Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ;
Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ;
Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ;
Uitti, R. J. (Mayo Clinic) ;
Ross, O. A. (Mayo Clinic) ;
Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ;
Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ;
Alcalay, Roy N (Columbia University Medical Center) ;
Wszolek, Z. K. (Mayo Clinic) ;
Gan-Or, Z. (McGill University) ;
Rouleau, G. A. (McGill University) ;
Krohn, L. (McGill University) ;
Mufti, K. (McGill University) ;
van Hilten, J. J. (Leiden University Medical Center) ;
Marinus, J. (Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguilar Barberà, Miquel (Mútua de Terrassa) ;
Alvarez, Ignacio (Mútua de Terrassa) ;
Alvarez, V. (Hospital Universitario Central de Asturias) ;
Barrero, F. J. (Universidad de Granada) ;
Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Botía, J. A. (Universidad de Murcia) ;
Boungiorno, M. T. (Mútua de Terrassa) ;
Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, M. (Mútua de Terrassa) ;
Dols Icardo, Oriol (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Duarte, J. (Hospital General de Segovia) ;
Duran, Raquel (Universidad de Granada) ;
Escamilla-Sevilla, F. (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, M. (Hospital Clínic i Provincial de Barcelona) ;
Feliz, C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, M. (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, R. (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C.. (Hospital Universitario Central de Asturias) ;
García-Ruiz, P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Heredia, M. J. G. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, J. (Institut de Recerca Sant Joan de Déu) ;
Infante, J. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jimenez-Escrig, A. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Lopez-Sendon, J. L. (Hospital Universitario Ramón y Cajal (Madrid)) ;
de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Torres, I. M. (Hospital Universitari i Politècnic La Fe de València) ;
Marín, J. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Marti, M. J. (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, J. C. (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
González, M. M. (Hospital Universitario Central de Asturias) ;
Mata, M. (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, E. (Hospital Clínic i Provincial de Barcelona) ;
Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pastor, P. (Mútua de Terrassa) ;
Errazquin, F. P. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Ruz, C. (Universidad de Granada) ;
Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, C. (Hospital General de Segovia) ;
Tartari, J. P. (Mútua de Terrassa) ;
Tejera-Parrado, C. (v) ;
Tolosa, E. (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, F. (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, F. (Universidad de Granada) ;
Zimprich, Alexander (Medical University of Vienna) ;
Pihlstrom, L. (Oslo University Hospital (Oslo)) ;
Toft, M. (Oslo University Hospital (Oslo, Noruega)) ;
Taba, P. (University of Tartu) ;
Koks, S. (The Perron Institute for Neurological and Translational Science) ;
Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ;
Majamaa, K. (Oulu University Hospital. (Finlàndia)) ;
Siitonen, A. (Oulu University Hospital. (Finlàndia)) ;
Tienari, P. (Helsinki University Hospital (Finlàndia)) ;
Okubadejo, N. U. (University of Lagos) ;
Ojo, O. O. (University of Lagos) ;
Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ;
Zharkinbekova, N. (South Kazakhstan Medical Academy) ;
Akhmetzhanov, V. (Astana Medical University) ;
Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Khaibullin, T. (Semey Medical University) ;
Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ;
Hingorani, Aroon (Health Data Research UK) ;
Wood, Nicholas W.. (University College London) ;
Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342
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9.
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12 p, 2.2 MB |
Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia
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Zhu, Nuole (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Santos-Santos, Miguel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Illán-Gala, Ignacio (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ;
Estellés, Teresa (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Barroeta, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Altuna-Azkargorta, Miren (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Arranz, Javier (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Muñoz, Laia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Belbin, Olivia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Sala, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Sánchez-Saudinós, María Belén (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Subirana, Andrea (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Videla Toro, Laura (Fundación Catalana Síndrome de Down. Centre Mèdic Down) ;
Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Carmona Iragui, María (Fundación Catalana Síndrome de Down. Centre Mèdic Down) ;
Fortea, Juan (Fundación Catalana Síndrome de Down. Centre Mèdic Down) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Background: Astrocytes play an essential role in neuroinflammation and are involved in the pathogenesis of neurodenegerative diseases. Studies of glial fibrillary acidic protein (GFAP), an astrocytic damage marker, may help advance our understanding of different neurodegenerative diseases. [...]
2021 - 10.1186/s40035-021-00275-w
Translational Neurodegeneration, Vol. 10 Núm. 1 (december 2021) , p. 50
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8 p, 15.2 MB |
Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer's disease in adults with Down syndrome
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Lleó, Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
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 (Suècia)) ;
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)
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