Article
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Neurobiology of aging - 1 Feb 2018
Verheijen Jan, van der Zee Julie, Gijselinck Ilse, Van den Bossche Tobi, Dillen Lubina, Heeman Bavo, Gómez-Tortosa Estrella, Lladó Albert, Sanchez-Valle Raquel, Graff Caroline, Pastor Pau, Pastor Maria A, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Clarimon Jordi, de Mendonça Alexandre, Gelpi Ellen, Tsolaki Magda, Diehl-Schmid Janine, Nacmias Benedetta, Almeida Maria Rosário, Borroni Barbara, Matej Radoslav, Ruiz Agustín, Engelborghs Sebastiaan, Vandenberghe Rik, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine, Sleegers Kristel
Abstract excerpt
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. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among...
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