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TDP-43 pathology is associated with increased tau burdens and seeding.
Tomé SO, Tsaka G, Ronisz A, Ospitalieri S, Gawor K, Gomes LA, Otto M, von Arnim CAF, Van Damme P, Van Den Bosch L, Ghebremedhin E, Laureyssen C, Sleegers K, Vandenberghe R, Rousseau F, Schymkowitz J, Thal DR. Tomé SO, et al. Among authors: vandenberghe r. Mol Neurodegener. 2023 Sep 30;18(1):71. doi: 10.1186/s13024-023-00653-0. Mol Neurodegener. 2023. PMID: 37777806 Free PMC article.
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. van der Zee J, et al. Among authors: vandenberghe r. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484. Hum Mutat. 2007. PMID: 17345602
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: vandenberghe r. 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
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K, Brouwers N, Van Damme P, Engelborghs S, Gijselinck I, van der Zee J, Peeters K, Mattheijssens M, Cruts M, Vandenberghe R, De Deyn PP, Robberecht W, Van Broeckhoven C. Sleegers K, et al. Among authors: vandenberghe r. Ann Neurol. 2009 May;65(5):603-9. doi: 10.1002/ana.21621. Ann Neurol. 2009. PMID: 19288468
Microglial upregulation of progranulin as a marker of motor neuron degeneration.
Philips T, De Muynck L, Thu HN, Weynants B, Vanacker P, Dhondt J, Sleegers K, Schelhaas HJ, Verbeek M, Vandenberghe R, Sciot R, Van Broeckhoven C, Lambrechts D, Van Leuven F, Van Den Bosch L, Robberecht W, Van Damme P. Philips T, et al. Among authors: vandenberghe r. J Neuropathol Exp Neurol. 2010 Dec;69(12):1191-200. doi: 10.1097/NEN.0b013e3181fc9aea. J Neuropathol Exp Neurol. 2010. PMID: 21107132
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: vandenberghe r. Brain. 2011 Mar;134(Pt 3):808-15. doi: 10.1093/brain/awr007. Brain. 2011. PMID: 21354975 Free PMC article.
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.
Brouwers N, Van Cauwenberghe C, Engelborghs S, Lambert JC, Bettens K, Le Bastard N, Pasquier F, Montoya AG, Peeters K, Mattheijssens M, Vandenberghe R, Deyn PP, Cruts M, Amouyel P, Sleegers K, Van Broeckhoven C. Brouwers N, et al. Among authors: vandenberghe r. Mol Psychiatry. 2012 Feb;17(2):223-33. doi: 10.1038/mp.2011.24. Epub 2011 Mar 15. Mol Psychiatry. 2012. PMID: 21403675 Free PMC article.
Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.
Zhou L, Brouwers N, Benilova I, Vandersteen A, Mercken M, Van Laere K, Van Damme P, Demedts D, Van Leuven F, Sleegers K, Broersen K, Van Broeckhoven C, Vandenberghe R, De Strooper B. Zhou L, et al. Among authors: vandenberghe r. EMBO Mol Med. 2011 May;3(5):291-302. doi: 10.1002/emmm.201100138. Epub 2011 Apr 15. EMBO Mol Med. 2011. PMID: 21500352 Free PMC article.
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.
Bettens K, Brouwers N, Engelborghs S, Lambert JC, Rogaeva E, Vandenberghe R, Le Bastard N, Pasquier F, Vermeulen S, Van Dongen J, Mattheijssens M, Peeters K, Mayeux R, St George-Hyslop P, Amouyel P, De Deyn PP, Sleegers K, Van Broeckhoven C. Bettens K, et al. Among authors: vandenberghe r. Mol Neurodegener. 2012 Jan 16;7:3. doi: 10.1186/1750-1326-7-3. Mol Neurodegener. 2012. PMID: 22248099 Free PMC article.
392 results