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Page 1
Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL. Umanah GKE, et al. Among authors: guiberson n. Sci Transl Med. 2017 Dec 13;9(420):eaah4985. doi: 10.1126/scitranslmed.aah4985. Sci Transl Med. 2017. PMID: 29237760 Free PMC article.
MiR-223 regulates the differentiation of immature neurons.
Harraz MM, Xu JC, Guiberson N, Dawson TM, Dawson VL. Harraz MM, et al. Among authors: guiberson n. Mol Cell Ther. 2014 Jun 17;2(18):18. doi: 10.1186/2052-8426-2-18. Mol Cell Ther. 2014. PMID: 25400937 Free PMC article.
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL, Black LS, Haller JE, Brukner A, Abramov D, Ahmad S, Xie YX, Sharma M, Burré J. Guiberson NGL, et al. Brain. 2024 Jun 3;147(6):2185-2202. doi: 10.1093/brain/awae019. Brain. 2024. PMID: 38242640 Free PMC article.