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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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13 p, 787.1 KB |
Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early-onset Alzheimer's disease
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Dekker, Alain D. (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Vermeiren, Yannick (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Carmona Iragui, María (Fundació Catalana Síndrome de Down) ;
Benejam, Bessy (Fundació Catalana Síndrome de Down) ;
Videla Toro, Laura (Fundació Catalana Síndrome de Down) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Aerts, Tony (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Van Dam, Debby (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Fernández, Susana (Fundació Catalana Síndrome de Down) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Videla, Sebastian (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Sieben, Anne (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Martin, Jean-Jacques (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Fundació Catalana Síndrome de Down) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Universitat Autònoma de Barcelona
People with Down syndrome (DS) are at high risk for Alzheimer's disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but have not been comprehensively studied in DS. [...]
2017 - 10.1016/j.dadm.2017.11.001
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring, Vol. 10 (november 2017) , p. 99-111
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