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13 p, 1.2 MB |
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) ;
Lladó, 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 (Fundación Jiménez Díaz, Madrid) ;
Pastor, Pau (Hospital Universitari Mútua de Terrassa) ;
Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ;
Graff, Caroline (Center for Alzheimer Research, Karolinska Institutet, Sweden) ;
Thonberg, Håkan (Center for Alzheimer Research, Karolinska Institutet, Sweden) ;
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 (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ;
Diehl-Schmid, Janine (Technische Universität München, Germany) ;
Alexopoulos, Panagiotis (Technische Universität München, Germany) ;
Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ;
Fortea, Juan (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ;
Tsolaki, Magda (Aristotle University of Thessaloniki, Greece) ;
Koutroumani, Maria (Aristotle University of Thessaloniki, Greece) ;
Matěj, Radoslav (Charles University, Prague, Czech Republic) ;
Rohan, Zdenek (Charles University, Prague, Czech Republic) ;
De Deyn, Peter (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
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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) ;
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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10 p, 498.4 KB |
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
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Cacace, Rita (University of Antwerp) ;
Van den Bossche, Tobi (Antwerp University Hospital) ;
Engelborghs, Sebastiaan (Hospital Network Antwerp () ;
Geerts, Nathalie (University of Antwerp) ;
Laureys, Annelies (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Graff, Caroline (Karolinska University Hospital) ;
Thonberg, Håkan (Karolinska University Hospital) ;
Chiang, Huei-Hsin (Karolinska University Hospital) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Ortega-Cubero, Sara (Instituto de Salud Carlos III) ;
Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
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) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomediques August Pi i Sunyer) ;
Lladó, Albert (Institut d'Investigacions Biomediques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomediques August Pi i Sunyer) ;
Almeida, Maria Rosário (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Koutroumani, Maria (Aristotle University of Thessaloniki) ;
Clarimon, Jordi (Universitat Autònoma de Barcelona. Departament de Neurologia) ;
Lleó Bisa, Alberto (Universitat Autònoma de Barcelona. Departament de Neurologia) ;
Fortea, Juan (Universitat Autònoma de Barcelona. Departament de Neurologia) ;
de Mendonça, Alexandre (University of Lisbon) ;
Martins, Madalena (University of Lisbon) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital) ;
Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ;
Vandenbulcke, Mathieu (University of Leuven) ;
Vandenberghe, Rik (University Hospitals Leuven) ;
De Deyn, Peter P. (Hospital Network Antwerp) ;
Cras, Patrick (Antwerp University Hospital) ;
van der Zee, Julie (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human Mutation, Vol. 36 (october 2015) , p. 1226-1235
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