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TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Gómez-Tortosa E, Baradaran-Heravi Y, Dillen L, Choudhury NR, Agüero Rabes P, Pérez-Pérez J, Kocoglu C, Sainz MJ, Ruiz González A, Téllez R, Cremades-Jimeno L, Cárdaba B; EU EOD Consortium; Van Broeckhoven C, Michlewski G, van der Zee J. Gómez-Tortosa E, et al. Among authors: dillen l. Alzheimers Dement. 2023 Jul;19(7):2805-2815. doi: 10.1002/alz.12913. Epub 2022 Dec 28. Alzheimers Dement. 2023. PMID: 36576960
[No title available]
[No authors listed] [No authors listed] PMID: 35109199
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: dillen l. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
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 R, Binetti G, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium. Verheijen J, et al. Among authors: dillen l. Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25. Neurobiol Aging. 2018. PMID: 29146049 Free article.
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
van der Zee J, Dillen L, Baradaran-Heravi Y, Gossye H, Koçoğlu C, Cuyt I, Dermaut B, Sieben A, Baets J, De Jonghe P, Vandenberghe R, De Deyn P, Cras P, Engelborghs S, Van Broeckhoven C; BELNEU Consortium. van der Zee J, et al. Among authors: dillen l. Neurobiol Dis. 2021 Aug;156:105421. doi: 10.1016/j.nbd.2021.105421. Epub 2021 Jun 9. Neurobiol Dis. 2021. PMID: 34118419 Free article.
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.
Nguyen HP, Van Mossevelde S, Dillen L, De Bleecker JL, Moisse M, Van Damme P, Van Broeckhoven C, van der Zee J; BELNEU Consortium. Nguyen HP, et al. Among authors: dillen l. Neurobiol Aging. 2018 Jan;61:255.e1-255.e7. doi: 10.1016/j.neurobiolaging.2017.08.021. Epub 2017 Aug 31. Neurobiol Aging. 2018. PMID: 28935222 Free article.
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.
Philtjens S, Van Mossevelde S, van der Zee J, Wauters E, Dillen L, Vandenbulcke M, Vandenberghe R, Ivanoiu A, Sieben A, Willems C, Benussi L, Ghidoni R, Binetti G, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, de Mendonça A, Miltenberger-Miltényi G, Hernández I, Boada M, Ruiz A, Nacmias B, Sorbi S, Almeida MR, Santana I, Clarimón J, Lleó A, Frisoni GB, Sanchez-Valle R, Lladó A, Gómez-Tortosa E, Gelpi E, Van den Broeck M, Peeters K, Cras P, De Deyn PP, Engelborghs S, Cruts M, Van Broeckhoven C; BELNEU Consortium; EU EOD Consortium. Philtjens S, et al. Among authors: dillen l. Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17. Neurobiol Aging. 2018. PMID: 29555433 Free article.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Among authors: dillen l. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 Free PMC article.
No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers.
Koçoğlu C, Gossye H, Dillen L, Van Mossevelde S, De Bleecker JL, Vandenberghe R, De Deyn PP, Sleegers K, Cras P, Engelborghs S, Van Broeckhoven C, van der Zee J; BELNEU Consortium. Koçoğlu C, et al. Among authors: dillen l. Neurobiol Aging. 2021 Jan;97:145.e1-145.e4. doi: 10.1016/j.neurobiolaging.2020.07.021. Epub 2020 Aug 15. Neurobiol Aging. 2021. PMID: 32921502 Free article.
267 results