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Page 1
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: santens 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
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Brouwers N, et al. Among authors: santens p. Arch Neurol. 2007 Oct;64(10):1436-46. doi: 10.1001/archneur.64.10.1436. Arch Neurol. 2007. PMID: 17923627
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. van der Zee J, et al. Among authors: santens p. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22. Hum Mol Genet. 2008. PMID: 17956895
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: santens 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
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: santens p. Brain. 2011 Mar;134(Pt 3):808-15. doi: 10.1093/brain/awr007. Brain. 2011. PMID: 21354975 Free PMC article.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, S… See abstract for full author list ➔ van der Zee J, et al. Among authors: santens p. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N, Verdin H, Ghijsels J, Hellemans M, Debackere E, Bogaert E, Symoens S, Naesens L, Lecomte E, Crosiers D, Bergmans B, Verhoeven K, Poppe B, Laureys G, Herdewyn S, Van Langenhove T, Santens P, De Bleecker JL, Hemelsoet D, Dermaut B; for Program for Undiagnosed Rare Diseases (UD-PrOZA). Schuermans N, et al. Among authors: santens p. Neurol Genet. 2023 Apr 26;9(3):e200071. doi: 10.1212/NXG.0000000000200071. eCollection 2023 Jun. Neurol Genet. 2023. PMID: 37152446 Free PMC article.
187 results