2015
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, Engelborghs S, Vandenbulcke M, De Baets G, Bäumer V, Cuijt I, Van den Broeck M, Peeters K, Mattheijssens M, Rousseau F, Vandenberghe R, De Jonghe P, Cras P, De Deyn PP, Martin JJ, Cruts M, Van Broeckhoven C; BELNEU Consortium.
Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18.
Janssens J, Philtjens S, Kleinberger G, Van Mossevelde S, van der Zee J, Cacace R, Engelborghs S, Sieben A, Banzhaf-Strathmann J, Dillen L, Merlin C, Cuijt I, Robberecht C, Schmid B, Santens P, Ivanoiu A, Vandenbulcke M, Vandenberghe R, Cras P, De Deyn PP, Martin JJ, Maudsley S, Haass C, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) consortium.
Acta Neuropathol Commun. 2015 Nov 10;3:68. doi: 10.1186/s40478-015-0246-7.
PMID: 26555887
Sottejeau Y, Bretteville A, Cantrelle FX, Malmanche N, Demiaute F, Mendes T, Delay C, Alves Dos Alves H, Flaig A, Davies P, Dourlen P, Dermaut B, Laporte J, Amouyel P, Lippens G, Chapuis J, Landrieu I, Lambert JC.
Acta Neuropathol Commun. 2015 Sep 23;3:58. doi: 10.1186/s40478-015-0237-8.
PMID: 26395440
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, Coucke PJ, Dermaut B.
Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
PMID: 25841028
Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.
Vanden Broeck L, Kleinberger G, Chapuis J, Gistelinck M, Amouyel P, Van Broeckhoven C, Lambert JC, Callaerts P, Dermaut B.
Neurobiol Aging. 2015 Feb;36(2):1121-9. doi: 10.1016/j.neurobiolaging.2014.09.001. Epub 2014 Sep 28.
PMID: 25442115