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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: van den broeck m, van der zee j, van duijn c, van broeckhoven c. Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16. Nature. 2006. PMID: 16862115
Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease.
Van Broeck B, Vanhoutte G, Pirici D, Van Dam D, Wils H, Cuijt I, Vennekens K, Zabielski M, Michalik A, Theuns J, De Deyn PP, Van der Linden A, Van Broeckhoven C, Kumar-Singh S. Van Broeck B, et al. Among authors: van dam d, van der linden a, van broeckhoven c. Neurobiol Aging. 2008 Feb;29(2):241-52. doi: 10.1016/j.neurobiolaging.2006.10.016. Epub 2006 Nov 16. Neurobiol Aging. 2008. PMID: 17112635
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. van der Zee J, et al. Among authors: van broeckhoven c. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22. Hum Mol Genet. 2008. PMID: 17956895
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.
Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M. Gijselinck I, et al. Among authors: van der zee j, van broeckhoven c. Neurobiol Aging. 2009 Aug;30(8):1329-31. doi: 10.1016/j.neurobiolaging.2007.11.002. Epub 2008 Jan 10. Neurobiol Aging. 2009. PMID: 18068872
779 results