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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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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
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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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