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7 p, 663.7 KB |
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Verheijen, Jan (University of Antwerp) ;
van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
de Mendonça, Alexandre (University of Lisbon) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Nacmias, Benedetta (University of Florence) ;
Almeida, Maria Rosário (University of Coimbra) ;
Borroni, Barbara (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Ruiz, Agustín (Fundació ACE) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Goeman, Johan ;
Nuytten, Dirk ;
Vandenbulcke, Mathieu ;
Santens, Patrick 700 1_ ;
Sieben, Anne ;
Dermaut, Bart ;
Versijpt, Jan ;
Michotte, Alex ;
Deryck, Olivier ;
Bergmans, Bruno ;
Willems, Christiana ;
Ivanoiu, Adrian ;
Salmon, Eric ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Sorbi, Sandro ;
Bessi, Valentina ;
Bagnoli, Silvia ;
Santana, Isabel ;
Simões do Couto, Frederico ;
Martins, Madalena ;
Thonberg, Häkan ;
Fratiglioni, Laura ;
Padovani, Alessandro ;
Rohan, Zdenek ;
Razquin, Cristina ;
Lorenzo, Elena ;
Iglesias, Elena ;
Seijo-Martínez, Manuel ;
Rene, Ramon ;
Gascon, Jordi ;
Campdelacreu, Jaume ;
Koutroumani, Maria ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. [...]
2018 -  10.1016/j.neurobiolaging.2017.10.012
Neurobiology of Aging, Vol. 62 (february 2018) , p. 245.e1-245.e7
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8 p, 667.2 KB |
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia
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Philtjens, Stéphanie (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Van der Zee, Julie (University of Antwerp) ;
Wauters, Eline (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Ivanoiu, Adrian (Université Catholique de Louvain) ;
Sieben, Anne (Universitair Ziekenhuis Gent) ;
Willems, Christiana (Jessa Hospital) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Diez-Fairen, Monica (Instituto de Salud Carlos III) ;
Aguilar, Miquel (Instituto de Salud Carlos III) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Hernández, Isabel (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Boada, M. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Ruiz, A. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Nacmias, B. (University of Florence) ;
Sorbi, S. (IRCCS Don Gnocchi) ;
Almeida, M.Rosario (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Frisoni, Giovanni B. (IRCCS Fatebenefratelli) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Van den Broeck, Marleen (University of Antwerp) ;
Peeters, Karin (University of Antwerp) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
De Deyn, Peter P. (Middelheim and Hoge Beuken) ;
Engelborghs, Sebastiaan (Middelheim and Hoge Beuken) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Universitat Autònoma de Barcelona
We investigated the genetic role of sortilin (SORT1) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene (GRN), a major causal gene for inherited FTD. [...]
2018 - 10.1016/j.neurobiolaging.2018.02.011
Neurobiology of Aging, Vol. 66 (june 2018) , p. 181.e3-181.e10
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3 p, 377.7 KB |
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
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Baradaran-Heravi, Yalda (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Nguyen, Hung Phuoc (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology) ;
De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology) ;
Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA)) ;
De Deyn, Peter Paul (Hospital Network Antwerp (ZNA)) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Van Damme, Philip (VIB) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
Salmon, Eric (University of Liege and Memory Clinic) ;
Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE)) ;
Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE)) ;
Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE)) ;
Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE)) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona) ;
Matej, Radoslav (Charles University) ;
Parobkova, Eva (Charles University) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (IRCCS Don Gnocchi) ;
Bagnoli, Silvia (University of Florence) ;
de Mendonça, Alexandre (University of Lisbon) ;
Ferreira, Catarina B. (University of Lisbon) ;
Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Almeida, Maria (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Van der Zee, Julie (University of Antwerp) ;
Goeman, Johan (BELNEU Consortium) ;
Nuytten, Dirk (BELNEU Consortium) ;
Sieben, Anne (BELNEU Consortium) ;
De Bleecker, Jan L. (BELNEU Consortium) ;
Santens, Patrick (BELNEU Consortium) ;
Versijpt, Jan (BELNEU Consortium) ;
Michotte, Alex (BELNEU Consortium) ;
Ivanoiu, Adrian (BELNEU Consortium) ;
Deryck, Olivier (BELNEU Consortium) ;
Bergmans, Bruno (BELNEU Consortium) ;
Willems, Christiana (BELNEU Consortium) ;
De Klippel, Nina (BELNEU Consortium) ;
Peeters, Dirk (BELNEU Consortium) ;
Archettim, Silvana (EU EOD Consortium) ;
Bonomi, Elisa (EU EOD Consortium) ;
Piaceri, Irene (EU EOD Consortium) ;
Ferrari, Camilla (EU EOD Consortium) ;
Simões do Couto, Federico (EU EOD Consortium) ;
Verdelho, Ana (EU EOD Consortium) ;
Miltenberger-Miltényi, Gabriel (EU EOD Consortium) ;
Universitat Autònoma de Barcelona
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. [...]
2018 - 10.1016/j.neurobiolaging.2018.05.005
Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11
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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 (Universitat Internacional de Catalunya. 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 (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Montrreal, Laura (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
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) ;
Mendez-Gonzalez, 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 (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. Institut Català de Neurociències Aplicades) ;
Alarcón-Martín, Emilio (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Valero, Sergi (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Sotolongo Grau, Oscar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Ullgren, Abbe (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam) ;
Benaque, Alba (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Pérez-Cordón, Alba (Universitat Internacional de Catalunya. 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 (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Corma-Gómez, Anaïs (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Martín Montes, Angel (Hospital Universitario La Paz (Madrid)) ;
Sanabria, Ángela (Universitat Internacional de Catalunya. 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 and Karolinska Institutet (Suecia)) ;
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 (Madrid)) ;
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 (Universitat Internacional de Catalunya. 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 and Karolinska Institutet (Suecia)) ;
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, Milan, Italy) ;
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 (Santander, Cantabria)) ;
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 (Estocolm, Suècia)) ;
Jessen, Frank (University of Cologne) ;
Nicolas, Gaël (Hospital Universitario de Cabueñes (Gijón)) ;
Selbæk, Geir (University of Oslo) ;
Ortega, Gemma (Universitat Internacional de Catalunya. 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 ( Finlàndia)) ;
Karlsson, Ida K. (Jönköping University) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
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 (Lausanne University Hospital) ;
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 (Universitat Internacional de Catalunya. 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 (Madrid)) ;
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 (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Fornage, Myriam (University of Texas Health Sciences Center at Houston) ;
Roberto, Natalia (Universitat Internacional de Catalunya. 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 (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 (Basilea, Suïssa)) ;
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 (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 (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 (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Mendoza, Silvia (Instituto Andaluz de Neurociencia) ;
Mead, Simon (University College London. 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 (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 (IRBLLeida)) ;
Lopez de Munain, Adolfo (Hospital de Donostia (Sant Sebastià, País Basc)) ;
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 (Universitat Internacional de Catalunya. 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) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Serrano-Ríos, Manuel (Hospital Clínico San Carlos (Madrid)) ;
Orellana, Adelina (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Tárraga, Lluís (Universitat Internacional de Catalunya. 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 (Universitat Internacional de Catalunya. 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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5.
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13 p, 3.2 MB |
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
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Ximelis, Teresa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Marín-Moreno, Alba (Centro de Investigación en Sanidad Animal (CISA-INIA-CSIC)) ;
Espinosa, J. C. (Centro de Investigación en Sanidad Animal (CISA-INIA-CSIC)) ;
Eraña, Hasier (Center for Cooperative Research in Biosciences (CIC bioGUNE). Basque Research and Technology Alliance (BRTA)) ;
Charco, Jorge M. (Center for Cooperative Research in Biosciences (CIC bioGUNE). Basque Research and Technology Alliance (BRTA)) ;
Hernández, Isabel (Ace Alzheimer Center Barcelona) ;
Riveira, Carmen (Neurology Service. Hospital de León) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
González-Roca, Eva (Hospital Clínic i Provincial de Barcelona) ;
Aldecoa, Iban (Hospital Clínic i Provincial de Barcelona) ;
Molina-Porcel, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Parchi, Piero (IRCCS. Istituto delle Scienze Neurologiche di Bologna) ;
Rossi, Marcello (IRCCS. Istituto delle Scienze Neurologiche di Bologna) ;
Castilla, Joaquín (IKERBasque Basque Foundation for Science) ;
Ruiz-García, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Medical University of Vienna) ;
Torres, Juan María (Centro de Investigación en Sanidad Animal (CISA-INIA-CSIC)) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Universitat Autònoma de Barcelona
Background: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. Methods: We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. [...]
2021 - 10.1186/s13195-021-00912-6
Alzheimer's research & therapy, Vol. 13 Núm. 1 (december 2021) , p. 176
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6.
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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
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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)
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7.
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16 p, 4.3 MB |
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
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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 (Estocolm, Suècia)) ;
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) ;
Mendez-Gonzalez, 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 Biomèdica) ;
Baquero, Miquel (Hospital Universitari i Politècnic La Fe (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 and Karolinska Institutet (Suècia)) ;
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 Biomèdica) ;
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 and Karolinska Institutet (Suècia)) ;
Tybjærg-Hansen, Anne (University of Copenhagen) ;
Hartmann, Annette M. (Martin-Luther-University Halle-Wittenberg) ;
Spottke, Annika (University of Bonn) ;
Corbatón-Anchuelo, Arturo (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ;
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 Universitario de Cabueñes (Gijón)) ;
Muñoz-Fernandez, Carmen (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Dufouil, Carole (CHU de Bordeaux) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
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) ;
Rodríguez-Rodríguez, 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 (Estocolm, Suècia)) ;
Jessen, Frank (University of Cologne) ;
Nicolas, Gaël (Hospital Universitario de Cabueñes (Gijón)) ;
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 (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ;
Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ;
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-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 (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 (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 (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 (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ;
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 (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 (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 (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 (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 (Universitat Internacional de Catalunya) ;
Mendoza, Silvia (Instituto Andaluz de Neurociencia) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
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 (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 Biomèdica) ;
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) ;
Sanchez-Valle, Raquel (Universitat de Barcelona) ;
Serrano-Ríos, Manuel (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ;
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 A (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)
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14 p, 1.8 MB |
Cognitive decline in amyotrophic lateral sclerosis : Neuropathological substrate and genetic determinants
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Borrego-Écija, Sergi (Universitat de Barcelona) ;
Turon-Sans, Janina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ximelis, Teresa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Aldecoa, Iban (Hospital Clínic i Provincial de Barcelona) ;
Molina-Porcel, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Povedano, Mónica (Hospital Universitari de Bellvitge) ;
Rubio, Miguel Angel (Hospital del Mar (Barcelona, Catalunya)) ;
Gamez, Josep (Universitat Autònoma de Barcelona) ;
Cano, Antonio (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Paré-Curell, Martí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Bajo, Lorena (Hospital Universitari de la Santa Creu de Vic) ;
Sotoca Fernández, Javier (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Balasa, Mircea (Universitat de Barcelona) ;
Antonell, Anna (Universitat de Barcelona) ;
Llado Plarrumani, Albert (Universitat de Barcelona) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Gelpi, Ellen (Medical University of Vienna)
Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to the extent of TDP-43 pathology is currently unclear. [...]
2021 - 10.1111/bpa.12942
Brain Pathology, Vol. 31 (february 2021)
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9 p, 1020.4 KB |
The autophagic marker p62 highlights Alzheimer type astrocytes in metabolic/hepatic encephalopathy
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Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rahimi, Jasmin (Danube Hospital) ;
Klotz, Sigrid (Medical University of Vienna) ;
Schmid, Susanne (Medical University of Vienna) ;
Ricken, Gerda (Medical University of Vienna) ;
Forcen-Vega, Sara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Budka, Herbert (Medical University of Vienna) ;
Kovacs, Gabor G. (University Health Network) ;
Universitat Autònoma de Barcelona
Metabolic/hepatic encephalopathy is neuropathologically characterized by the presence of Alzheimer type II astrocytes (AA II) with large and clear nuclear morphology. To date, there is no good immunohistochemical marker to better identify these cells. [...]
2020 - 10.1111/neup.12660
Neuropathology, Vol. 40 (june 2020) , p. 358-366
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6 p, 359.1 KB |
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases
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Borrego-Écija, Sergi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cortés-Vicente, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Cervera Carles, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Gamez, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Batlle, J. (Hospital Sant Pau i Santa Tecla (Tarragona)) ;
Ricken, Gerda (Medical University of Vienna) ;
Molina-Porcel, L. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Aldecoa, Iban (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Gelpi, Ellen (Medical University of Vienna) ;
Universitat Autònoma de Barcelona
2018 - 10.1111/nan.12527
Neuropathology and Applied Neurobiology, Vol. 45 (november 2018) , p. 421-426
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