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Page 1
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. van der Zee J, et al. Among authors: de deyn pp, de jonghe p, de mendonca a. Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5. Acta Neuropathol. 2014. PMID: 24899140 Free PMC article.
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: de deyn pp, de pooter t, de jonghe p. 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
Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts.
Van Langenhove T, van der Zee J, Engelborghs S, Vandenberghe R, Santens P, Van den Broeck M, Mattheijssens M, Peeters K, Nuytten D, Cras P, De Deyn PP, De Jonghe P, Cruts M, Van Broeckhoven C. Van Langenhove T, et al. Among authors: de deyn pp, de jonghe p. Neurobiol Aging. 2012 May;33(5):1004.e17-20. doi: 10.1016/j.neurobiolaging.2011.09.025. Epub 2011 Oct 27. Neurobiol Aging. 2012. PMID: 22035589
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: de deyn pp, de jonghe p, de bleecker j. Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Lancet Neurol. 2012. PMID: 22154785
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: de deyn pp, de jonghe p, de mendonca a, de bleecker j. 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 supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium. Baradaran-Heravi Y, et al. Among authors: de deyn pp, de jonghe p, de mendonca a. Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23. Neurobiol Aging. 2018. PMID: 29886022 Free article.
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, Bäumer V, Van Den Broeck M, Mattheijssens M, Peeters K, Martin JJ, Michotte A, Santens P, De Jonghe P, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C. Van Langenhove T, et al. Among authors: de deyn pp, de jonghe p, de bleecker j. JAMA Neurol. 2013 Mar 1;70(3):365-73. doi: 10.1001/2013.jamaneurol.181. JAMA Neurol. 2013. PMID: 23338682
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. Gijselinck I, et al. Among authors: de deyn pp, de jonghe p, de baets g. Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581300 Free PMC article.
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium. Van Mossevelde S, et al. Among authors: de deyn pp, de jonghe p, de bleecker j. Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15. Brain. 2016. PMID: 26674655 Free PMC article.
389 results