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TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.
Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C. Kleinberger G, et al. Among authors: engelborghs s. Sci Transl Med. 2014 Jul 2;6(243):243ra86. doi: 10.1126/scitranslmed.3009093. Sci Transl Med. 2014. PMID: 24990881
Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.
Engelborghs S, Dermaut B, Mariën P, Symons A, Vloeberghs E, Maertens K, Somers N, Goeman J, Rademakers R, Van den Broeck M, Pickut B, Cruts M, Van Broeckhoven C, De Deyn PP. Engelborghs S, et al. Neurobiol Aging. 2006 Feb;27(2):285-92. doi: 10.1016/j.neurobiolaging.2005.02.005. Neurobiol Aging. 2006. PMID: 16399213
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B. van der Zee J, et al. Among authors: engelborghs s. Brain. 2006 Apr;129(Pt 4):841-52. doi: 10.1093/brain/awl029. Epub 2006 Feb 22. Brain. 2006. PMID: 16495329
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C. Cruts M, et al. Among authors: engelborghs s. Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16. Nature. 2006. PMID: 16862115
422 results