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Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.
van Rhijn JR, Shi Y, Bormann M, Mossink B, Frega M, Recaioglu H, Hakobjan M, Klein Gunnewiek T, Schoenmaker C, Palmer E, Faivre L, Kittel-Schneider S, Schubert D, Brunner H, Franke B, Nadif Kasri N. van Rhijn JR, et al. Among authors: nadif kasri n. Neurobiol Dis. 2022 Feb;163:105587. doi: 10.1016/j.nbd.2021.105587. Epub 2021 Dec 16. Neurobiol Dis. 2022. PMID: 34923109 Free 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: nadif kasri n. Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3. Nat Commun. 2019. PMID: 31666522 Free PMC article.
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N. Frega M, et al. Among authors: nadif kasri n. Cell Rep. 2020 Jan 7;30(1):173-186.e6. doi: 10.1016/j.celrep.2019.12.002. Cell Rep. 2020. PMID: 31914384 Free article.
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.
Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T. Klein Gunnewiek TM, et al. Among authors: nadif kasri n. Cell Rep. 2020 Apr 21;31(3):107538. doi: 10.1016/j.celrep.2020.107538. Cell Rep. 2020. PMID: 32320658 Free article.
83 results