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Page 1
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: cras p. 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.
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: cras p. 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.
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Cacace R, Van den Bossche T, Engelborghs S, Geerts N, Laureys A, Dillen L, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, Diehl-Schmid J, Alexopoulos P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Sanchez-Valle R, Lladó A, Gelpi E, Almeida MR, Santana I, Tsolaki M, Koutroumani M, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Borroni B, Padovani A, Matej R, Rohan Z, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cras P, van der Zee J, Sleegers K, Van Broeckhoven C; Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium. Cacace R, et al. Among authors: cras p. Hum Mutat. 2015 Dec;36(12):1226-35. doi: 10.1002/humu.22908. Epub 2015 Oct 14. Hum Mutat. 2015. PMID: 26411346 Free PMC article.
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. Verheijen J, et al. Among authors: cras p. Acta Neuropathol. 2016 Aug;132(2):213-224. doi: 10.1007/s00401-016-1566-9. Epub 2016 Mar 30. Acta Neuropathol. 2016. PMID: 27026413 Free PMC article.
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, Van Cauwenberghe C, Vermeulen S, Van den Broeck M, Laureys A, Peeters K, Mattheijssens M, Vandenbulcke M, Vandenberghe R, Martin JJ, De Deyn PP, Cras P, Van Broeckhoven C; Belgian Neurology Consortium. Van den Bossche T, et al. Among authors: cras p. Neurology. 2016 Jun 7;86(23):2126-33. doi: 10.1212/WNL.0000000000002628. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037232 Free PMC article.
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
De Roeck A, Duchateau L, Van Dongen J, Cacace R, Bjerke M, Van den Bossche T, Cras P, Vandenberghe R, De Deyn PP, Engelborghs S, Van Broeckhoven C, Sleegers K; BELNEU Consortium. De Roeck A, et al. Among authors: cras p. Acta Neuropathol. 2018 Jun;135(6):827-837. doi: 10.1007/s00401-018-1841-z. Epub 2018 Mar 27. Acta Neuropathol. 2018. PMID: 29589097 Free PMC article.
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
Cacace R, Heeman B, Van Mossevelde S, De Roeck A, Hoogmartens J, De Rijk P, Gossye H, De Vos K, De Coster W, Strazisar M, De Baets G, Schymkowitz J, Rousseau F, Geerts N, De Pooter T, Peeters K, Sieben A, Martin JJ, Engelborghs S, Salmon E, Santens P, Vandenberghe R, Cras P, P De Deyn P, C van Swieten J, M van Duijn C, van der Zee J, Sleegers K, Van Broeckhoven C; BELNEU Consortium. Cacace R, et al. Among authors: cras p, p de deyn p. Acta Neuropathol. 2019 Jun;137(6):901-918. doi: 10.1007/s00401-019-01976-3. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874922 Free PMC article.
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.
van der Zee J, Van Langenhove T, Kleinberger G, Sleegers K, Engelborghs S, Vandenberghe R, Santens P, Van den Broeck M, Joris G, Brys J, Mattheijssens M, Peeters K, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C. van der Zee J, et al. Among authors: cras p. Brain. 2011 Mar;134(Pt 3):808-15. doi: 10.1093/brain/awr007. Brain. 2011. PMID: 21354975 Free PMC article.
327 results