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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 / 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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