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11 p, 1.2 MB |
Alzheimer's disease in Down syndrome : An overlooked population for prevention trials
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Strydom, André (South London and Maudsley NHS Foundation Trust) ;
Coppus, Antonia (Department of Primary and Community Care, Radboud University Medical Center, Nijmegen) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Danek, Adrian (Department of Neurology, Ludwig-Maximilians-Universität München) ;
Fortea, Juan (Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down) ;
Hardy, John (Reta Lila Weston Institute, Institute of Neurology, University College London) ;
Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) site Munich) ;
Nuebling, Georg (Department of Neurology, Ludwig-Maximilians-Universität München) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ;
Ritchie, Craig (Centre for Clinical Brain Sciences. University of Edinburgh) ;
van Duijn, Cornelia (Department of Epidemiology, Erasmus Medical Centre, Rotterdam) ;
Zaman, Shahid (Cambridgeshire & Peterborough NHS Foundation Trust (CBFT), Fulbourn Hospital) ;
Zetterberg, Henrik (Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital) ;
Universitat Autònoma de Barcelona
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. [...]
2018 -  10.1016/j.trci.2018.10.006
Alzheimer's & Dementia : Translational Research & Clinical Interventions, Vol. 4 (december 2018) , p. 703-713
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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
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van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital) ;
Perrone, Federica (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Bäumer, Veerle (University of Antwerp) ;
Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ;
De Bleecker, Jan (University Hospital Ghent and University of Ghent) ;
Baets, Jonathan (Antwerp University Hospital) ;
Gelpi, Ellen (Neurological Tissue Bank of the Biobanc ‐ Hospital Clinic‐Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ;
Rojas García, Ricardo (Universitat Autònoma de Barcelona) ;
Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Diehl‐Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Perneczky, Robert (West London Mental Health Trust) ;
Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ;
Graff, Caroline (Karolinska University Hospital) ;
Thonberg, Håkan (Karolinska University Hospital) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Jordanova, Albena (Medical University‐Sofia) ;
Sarafov, Stayko (Medical University‐Sofia) ;
Tournev, Ivailo (New Bulgarian University) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger‐Miltényi, Gabriel (University of Lisbon) ;
Simões do Couto, Frederico (University of Lisbon) ;
Ramirez, Alfredo (University of Cologne) ;
Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ;
Heneka, Michael T. (University of Bonn) ;
Gómez‐Tortosa, Estrella (Fundación Jiménez Díaz) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Cras, Patrick (Antwerp University Hospital) ;
Vandenberghe, Rik (University Hospitals Leuven) ;
De Jonghe, Peter (Antwerp University Hospital) ;
De Deyn, Peter P. (Hospital Network Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Goeman, Johan (Hospital Network Antwerp) ;
Nuytten, Dirk (Hospital Network Antwerp) ;
Smets, Katrien (Antwerp University Hospital) ;
Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ;
Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ;
Bleecker, Jan De (University Hospital Ghent) ;
Santens, Patrick (University Hospital Ghent) ;
Dermaut, Bart (University Hospital Ghent) ;
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 (CIBERNED Instituto de Salud Carlos III) ;
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 (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ;
Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències 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 (Hospital Clínic, IDIBAPS) ;
Lladó, Albert (Hospital Clínic, IDIBAPS) ;
Santana, Isabel (University of Coimbra) ;
Rosário Almeida, Maria (University of Coimbra) ;
Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ;
Maetzler, Walter (Hertie Institute for Clinical Brain Research) ;
Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ;
Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ;
Kovacs, Gabor G. (Medical University of Vienna) ;
Fabrizi, Gian Maria (University of Verona) ;
Testi, Silvia (University of Verona)
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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