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1.
7 p, 663.7 KB Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort / 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  
2.
8 p, 667.2 KB Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia / 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  
3.
3 p, 377.7 KB No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients / 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  
4.
2 p, 2.0 MB Author Correction : Common variants in Alzheimer's disease and risk stratification by polygenic risk scores / 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)  
5.
16 p, 4.3 MB Common variants in Alzheimer's disease and risk stratification by polygenic risk scores / De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tesi, Niccolo (Delft Univeristy of Technology) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille) ; Andrade, Victor (University Clinic Bonn) ; Jansen, Iris E. (Vrije Universiteit Amsterdam) ; Pedersen, Nancy L. (Karolinska Institutet (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)  
6.
13 p, 610.0 KB White Matter Hyperintensities Are No Major Confounder for Alzheimer's Disease Cerebrospinal Fluid Biomarkers / van Waalwijk van Doorn, Linda J. C. ; Ghafoorian, Mohsen ; van Leijsen, Esther M. C. ; Claassen, Jurgen A. H. R. ; Arighi, Andrea ; Bozzali, Marco ; Cannas, Jorge ; Cavedo, Enrica ; Eusebi, Paolo ; Farotti, Lucia ; Fenoglio, Chiara ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Frisoni, Giovanni B. ; Galimberti, Daniela ; Greco, Viviana ; Herukka, Sanna-Kaisa ; Liu, Yawu ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre ; Nobili, Flavio M. ; Parnetti, Lucilla ; Picco, Agnese ; Pikkarainen, Maria ; Salvadori, Nicola ; Scarpini, Elio ; Soininen, Hilkka ; Tarducci, Roberto ; Urbani, Andrea ; Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Meulenbroek, Olga ; Platel, Bram ; Verbeek, Marcel M. ; Kuiperij, H. Bea ; Universitat Autònoma de Barcelona
The cerebrospinal fluid (CSF) biomarkers amyloid-β 1-42 (Aβ), total and phosphorylated tau (t-tau, p-tau) are increasingly used to assist in the clinical diagnosis of Alzheimer's disease (AD). However, CSF biomarker levels can be affected by confounding factors. [...]
2021 - 10.3233/JAD-200496
Journal of Alzheimer's disease, Vol. 79 (january 2021) , p. 163-175  
7.
16 p, 688.9 KB Consensus guidelines for lumbar puncture in patients with neurological diseases / Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Niemantsverdriet, Ellis (Reference Center for Biological Markers of Dementia (BIODEM), Department of Biomedical Sciences, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Struyfs, Hanne (Reference Center for Biological Markers of Dementia (BIODEM), Department of Biomedical Sciences, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Blennow, Kaj (Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden) ; Brouns, Raf (Department of Neurology, Universitair Ziekenhuis Brussel (UZ Brussel), Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Brussels, Belgium) ; Comabella, Manuel (Hospital Universitari Vall d'Hebron) ; Dujmovic, Irena (Clinic of Neurology, Clinical Centre of Serbia, Department of Neurology, Faculty of Medicine, University of Belgrade School of Medicine, Belgrade, Serbia) ; van der Flier, Wiesje (Amsterdam UMC. University Medical Center) ; Frölich, Lutz (Central Institute of Mental Health (Manheim, Alemanya)) ; Galimberti, Daniela (Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Gnanapavan, Sharmilee (Queen Mary University of London) ; Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Hoff, Erik (Department of Neurology, Atrium Medisch Centrum Parkstad, Heerlen, The Netherlands) ; Hort, Jakub (International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic) ; Iacobaeus, Ellen (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Ingelsson, Martin (Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden) ; Jan de Jong, Frank (Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands) ; Jonsson, Michael (Sahlgrenska University Hospital (Suècia)) ; Khalil, Michael (Department of Neurology, Medical University Graz, Graz, Austria) ; Kuhle, Jens (University Hospital Basel (Basilea, Suïssa)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (Laboratory of Neurosciences, Department of Molecular Medicine and Faculty of Medicine, University of Lisbon, Lisbon, Portugal) ; Molinuevo, José Luis (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Nagels, Guy (National MS Center Melsbroek, Brussels, Belgium) ; Paquet, Claire (Research Memory Center Lariboisière Hospital University Paris Diderot INSERMU942, Paris, France) ; Parnetti, Lucilla (Section of Neurology, Centre for Memory Disturbances, Department of Medicine, University of Perugia, Perugia, Italy) ; Roks, Gerwin (Department of Neurology, St Elisabeth Ziekenhuis, Tilburg, The Netherlands) ; Rosa-Neto, Pedro (Departments of Psychiatry, McGill Centre for Studies in Aging, Douglas Hospital Research Center, McGill University, Montreal, Canada) ; Scheltens, Philip (Amsterdam UMC. University Medical Center) ; Skårsgard, Constance (Department of Geriatrics, Kalmar County Hospital, Kalmar, Sweden) ; Stomrud, Erik (Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, Lund, Sweden) ; Tumani, Hayrettin (CSF Laboratory and Multiple Sclerosis Outpatient Unit, Department of Neurology, University of Ulm, Ulm, Germany) ; Visser, Pieter Jelle (Maastricht University. Department of Psychiatry and Neuropsychology) ; Wallin, Anders (Sahlgrenska University Hospital (Suècia)) ; Winblad, Bengt (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Duits, Flora (Amsterdam UMC. University Medical Center) ; Teunissen, Charlotte E. (Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands) ; Universitat Autònoma de Barcelona
Cerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standards and guidelines to minimize the risk of complications, such as post-LP headache or back pain. [...]
2017 - 10.1016/j.dadm.2017.04.007
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring, Vol. 8 (may 2017) , p. 111-126  
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13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; de Mendonça, Alexandre (University of Lisbon, Portugal) ; Martins, Madalena (University of Lisbon, Portugal) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ; Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ; Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Santana, Isabel (University of Coimbra) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter Paul (Institute Born-Bunge, University of Antwerp, Belgium) ; Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ; Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ; Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487  
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13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University-Sofia) ; Sarafov, Stayko (Medical University-Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger-Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (University Hospital Antwerp (Bèlgica)) ; Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ; Smets, Katrien (University Hospital Antwerp (Bèlgica)) ; Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Bleecker, Jan De (Universitair Ziekenhuis Gent) ; Santens, Patrick (Universitair Ziekenhuis Gent) ; Dermaut, Bart (Universitair Ziekenhuis Gent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint-Luc University Hospital) ; Deryck, Olivier (General Hospital Sint-Jan Brugge) ; Bergmans, Bruno (General Hospital Sint-Jan Brugge) ; Delbeck, Jean (General Hospital Sint-Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B. (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Charles University. Faculty of Medicine in Hradec Králové) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona) ; Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  
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12 p, 849.5 KB A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease / Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ; Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ; van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ; Pastor, Maria A. (Clínica Universidad de Navarra) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ; Mateiu, Ligia (University of Antwerp. VIB) ; Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ; Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ; Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ; Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224  

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