Compound heterozygous and homozygous mutations reducing VPS13C protein expression are associated with Lewy body disease and Parkinson's disease

Autor: Smolders, S., Philtjens, S., Crosiers, D., Van Mossevelde, S., Heeman, B., Sieben, A., Pals, P., Engelborghs, S., De Deyn, P. P., Cras, P., Van Broeckhoven, C., Consortium, B.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::8afae7c804fbfcfb7c47774b157be19a
https://biblio.vub.ac.be/vubir/compound-heterozygous-and-homozygous-mutations-reducing-vps13c-protein-expression-are-associated-with-lewy-body-disease-and-parkinsons-disease(82ea2b16-04c7-435d-a9da-3e17cf3d5ef6).html

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Autor: Verheijen, J, van der Zee, J, Gijselinck, I, Van den Bossche, T, Dillen, L, Heeman, B, Gómez-Tortosa, E, Lladó, A, Sanchez-Valle, R, Graff, C, Pastor, P, Pastor, Ma, Benussi, L, Ghidoni, Roberta, Binetti, G, Clarimon, J, de Mendonça, A, Gelpi, E, Tsolaki, M, Diehl-Schmid, J, Nacmias, B, Almeida, Mr, Borroni, B, Matej, R, CASTILLA RUIZ, ALVARO JAVIER, Engelborghs, S, Vandenberghe, R, De Deyn PP, Cruts, M, Van Broeckhoven, C, Sleegers, K, Belneu, Consortium, EU EOD, Consortium.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::5e746b6e103875e0f59744e151a7f31b
http://hdl.handle.net/11379/501933

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Autor: Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, Anne, Engelborghs, S, De Bleecker, Jan, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Baumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, PP, Cruts, M, Van Broeckhoven, C, BELNEU consortium, the, Dermaut, Bart, Santens, Patrick, Van Langenhove, Tim

Publikováno v: MOLECULAR PSYCHIATRY
Molecular Psychiatry
Molecular psychiatry
Molecular psychiatry 21(8), 1112-1124 (2015). doi:10.1038/mp.2015.159
Molecular Psychiatry, Vol. 21, no. 8, p. 1112-1124 (2016)

Pathological expansion of a G(4)C(2) repeat, located in the 5' regulatory region of C9orf72, is the most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 patients have highly variable o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42f2dea35c03de12eaaca89b42e618a0
https://doi.org/10.1038/mp.2015.159

Loss-of-Function Mutations in TBK1 Are Frequently Associated with Frontotemporal Lobar Degeneration in a Belgian Patient Cohort

Autor: Gijselinck, I., Van Mossevelde, S., Sieben, A., Heeman, B., Engelborghs, Sebastiaan, Vandenbulcke, M., Cuijt, I., Van Den Broeck, M., Peeters, K., Mattheijssens, M., Vandenberghe, R., De Jonghe, P., Cras, P., De Deyn, P.p., Martin, J.J., Cruts, M, Van Broeckhoven, C.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::062943f036b317cae1481e1850b30f79
https://biblio.vub.ac.be/vubir/lossoffunction-mutations-in-tbk1-are-frequently-associated-with-frontotemporal-lobar-degeneration-in-a-belgian-patient-cohort(dbabba41-6d2e-4358-98e1-2e839d7753db).html

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