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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Smolders S, Philtjens S, Crosiers D, Sieben A, Hens E, Heeman B, Van Mossevelde S, Pals P, Asselbergh B, Dos Santos Dias R, Vermeiren Y, Vandenberghe R, Engelborghs S, De Deyn PP, Martin JJ, Cras P, Annaert W, Van Broeckhoven C; BELNEU consortium. Smolders S, et al. Among authors: asselbergh b. Acta Neuropathol Commun. 2021 Feb 12;9(1):25. doi: 10.1186/s40478-021-01121-w. Acta Neuropathol Commun. 2021. PMID: 33579389 Free PMC article.
Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.
Bettens K, Vermeulen S, Van Cauwenberghe C, Heeman B, Asselbergh B, Robberecht C, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Bettens K, et al. Among authors: asselbergh b. Mol Neurodegener. 2015 Jul 16;10:30. doi: 10.1186/s13024-015-0024-9. Mol Neurodegener. 2015. PMID: 26179372 Free PMC article.
Mitochondria-associated membranes as hubs for neurodegeneration.
Krols M, van Isterdael G, Asselbergh B, Kremer A, Lippens S, Timmerman V, Janssens S. Krols M, et al. Among authors: asselbergh b. Acta Neuropathol. 2016 Apr;131(4):505-23. doi: 10.1007/s00401-015-1528-7. Epub 2016 Jan 7. Acta Neuropathol. 2016. PMID: 26744348 Free PMC article. Review.
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V. Geuens T, et al. Among authors: asselbergh b. Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3. Acta Neuropathol Commun. 2017. PMID: 28077174 Free PMC article.
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. Bouhy D, et al. Among authors: asselbergh b. Acta Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0. Epub 2017 Aug 5. Acta Neuropathol. 2018. PMID: 28780615 Free PMC article.
Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease.
Gusareva ES, Twizere JC, Sleegers K, Dourlen P, Abisambra JF, Meier S, Cloyd R, Weiss B, Dermaut B, Bessonov K, van der Lee SJ, Carrasquillo MM, Katsumata Y, Cherkaoui M, Asselbergh B, Ikram MA, Mayeux R, Farrer LA, Haines JL, Pericak-Vance MA, Schellenberg GD; Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1); Alzheimer's Disease Genetics Consortium (ADGC); European Alzheimer Disease Initiative Investigators (EADI1 Consortium); Sims R, Williams J, Amouyel P, van Duijn CM, Ertekin-Taner N, Van Broeckhoven C, Dequiedt F, Fardo DW, Lambert JC, Van Steen K. Gusareva ES, et al. Among authors: asselbergh b. Neurobiol Aging. 2018 Dec;72:188.e3-188.e12. doi: 10.1016/j.neurobiolaging.2018.08.001. Epub 2018 Aug 9. Neurobiol Aging. 2018. PMID: 30201328 Free PMC article.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, Nemegeer M, Meester JAN, Afenjar A, Amaral M, Ballhausen D, Barnett S, Barth M, Asselbergh B, Spaas K, Heeman B, Bassetti J, Blackburn P, Schaer M, Blanc X, Zoete V, Casas K, Courtin T, Doummar D, Guerry F, Keren B, Pappas J, Rabin R, Begtrup A, Shinawi M, Vulto-van Silfhout AT, Kleefstra T, Wagner M, Ziegler A, Schaefer E, Gerard B, De Bie CI, Holwerda SJB, Abbot MA, Antonarakis SE, Loeys B. Meuwissen M, et al. Among authors: asselbergh b. Genet Med. 2022 Jul;24(7):1583-1591. doi: 10.1016/j.gim.2022.04.003. Epub 2022 May 2. Genet Med. 2022. PMID: 35499524 Free article.
49 results