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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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