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Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
Epilepsy Behav. 2013 Jul;28 Suppl 1:S58-60. doi: 10.1016/j.yebeh.2012.06.034.
Epilepsy Behav. 2013.
PMID: 23756481
Review.
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B.
de Nijs L, et al. Among authors: wolkoff n.
Hum Mol Genet. 2012 Dec 1;21(23):5106-17. doi: 10.1093/hmg/dds356. Epub 2012 Aug 27.
Hum Mol Genet. 2012.
PMID: 22926142
Free PMC article.
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CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons.
Sirois CL, Guo Y, Li M, Wolkoff NE, Korabelnikov T, Sandoval S, Lee J, Shen M, Contractor A, Sousa AMM, Bhattacharyya A, Zhao X.
Sirois CL, et al. Among authors: wolkoff ne.
Cell Rep. 2024 Jun 11;43(6):114330. doi: 10.1016/j.celrep.2024.114330. Online ahead of print.
Cell Rep. 2024.
PMID: 38865241
Free article.
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Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.
Shen M, Sirois CL, Guo Y, Li M, Dong Q, Méndez-Albelo NM, Gao Y, Khullar S, Kissel L, Sandoval SO, Wolkoff NE, Huang SX, Xu Z, Bryan JE, Contractor AM, Korabelnikov T, Glass IA, Doherty D; Birth Defects Research Laboratory; Levine JE, Sousa AMM, Chang Q, Bhattacharyya A, Wang D, Werling DM, Zhao X.
Shen M, et al. Among authors: wolkoff ne.
Neuron. 2023 Dec 20;111(24):3988-4005.e11. doi: 10.1016/j.neuron.2023.09.014. Epub 2023 Oct 10.
Neuron. 2023.
PMID: 37820724
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