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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Benedetti MC, D'andrea T, Colantoni A, Silachev D, de Turris V, Boussadia Z, Babenko VA, Volovikov EA, Belikova L, Bogomazova AN, Pepponi R, Whye D, Buttermore ED, Tartaglia GG, Lagarkova MA, Katanaev VL, Musayev I, Martinelli S, Fucile S, Rosa A. Benedetti MC, et al. Among authors: buttermore ed. Heliyon. 2024 Feb 21;10(5):e26656. doi: 10.1016/j.heliyon.2024.e26656. eCollection 2024 Mar 15. Heliyon. 2024. PMID: 38434323 Free PMC article.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. Li J, et al. Among authors: buttermore ed. J Med Internet Res. 2021 Mar 16;23(3):e21023. doi: 10.2196/21023. J Med Internet Res. 2021. PMID: 33724192 Free PMC article.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Saffari A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore ED, Barrett L, Borner GHH, Davies AK, Ebrahimi-Fakhari D, Sahin M. Saffari A, et al. Among authors: buttermore ed. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. Nat Commun. 2024. PMID: 38233389 Free PMC article.
23 results