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.

PMID: 26581300

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

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 


Tau phosphorylation regulates the interaction between BIN1's SH3 domain and Tau's proline-rich domain.

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