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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: aquilino m. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670 Free PMC article.
Spreading depolarization suppression from inter-astrocytic gap junction blockade assessed with multimodal imaging and a novel wavefront detection scheme.
Ringuette D, EbrahimAmini A, Sangphosuk W, Aquilino MS, Carroll G, Ashley M, Bazzigaluppi P, Dufour S, Droguerre M, Stefanovic B, Levi O, Charveriat M, Monnier PP, Carlen PL. Ringuette D, et al. Among authors: aquilino ms. Neurotherapeutics. 2024 Jan;21(1):e00298. doi: 10.1016/j.neurot.2023.10.008. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241157 Free PMC article.
55 results