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CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: oudakker a. Brain. 2024 Oct 26:awae330. doi: 10.1093/brain/awae330. Online ahead of print. Brain. 2024. PMID: 39460936
A human in vitro neuronal model for studying homeostatic plasticity at the network level.
Yuan X, Puvogel S, van Rhijn JR, Ciptasari U, Esteve-Codina A, Meijer M, Rouschop S, van Hugte EJH, Oudakker A, Schoenmaker C, Frega M, Schubert D, Franke B, Nadif Kasri N. Yuan X, et al. Among authors: oudakker a. Stem Cell Reports. 2023 Nov 14;18(11):2222-2239. doi: 10.1016/j.stemcr.2023.09.011. Epub 2023 Oct 19. Stem Cell Reports. 2023. PMID: 37863044 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Among authors: oudakker a. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks.
Mossink B, van Rhijn JR, Wang S, Linda K, Vitale MR, Zöller JEM, van Hugte EJH, Bak J, Verboven AHA, Selten M, Negwer M, Latour BL, van der Werf I, Keller JM, Klein Gunnewiek TM, Schoenmaker C, Oudakker A, Anania A, Jansen S, Lesch KP, Frega M, van Bokhoven H, Schubert D, Nadif Kasri N. Mossink B, et al. Among authors: oudakker a. Mol Psychiatry. 2022 Jan;27(1):1-18. doi: 10.1038/s41380-021-01117-x. Epub 2021 May 10. Mol Psychiatry. 2022. PMID: 33972691 Free PMC article.
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N. Frega M, et al. Among authors: oudakker a. Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3. Nat Commun. 2019. PMID: 31666522 Free PMC article.
ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function.
Ba W, Selten MM, van der Raadt J, van Veen H, Li LL, Benevento M, Oudakker AR, Lasabuda RSE, Letteboer SJ, Roepman R, van Wezel RJA, Courtney MJ, van Bokhoven H, Nadif Kasri N. Ba W, et al. Among authors: oudakker ar. Cell Rep. 2016 Feb 16;14(6):1355-1368. doi: 10.1016/j.celrep.2016.01.037. Epub 2016 Feb 4. Cell Rep. 2016. PMID: 26854232 Free article.
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H. Balemans MC, et al. Among authors: oudakker ar. Dev Biol. 2014 Feb 15;386(2):395-407. doi: 10.1016/j.ydbio.2013.12.016. Epub 2013 Dec 19. Dev Biol. 2014. PMID: 24362066 Free article.
30 results