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Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA. Miller KE, et al. Among authors: goldman je. Nat Genet. 2023 Nov;55(11):1920-1928. doi: 10.1038/s41588-023-01547-z. Epub 2023 Oct 23. Nat Genet. 2023. PMID: 37872450 Free PMC article.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL. Lai D, et al. Among authors: goldman je. Brain. 2022 Aug 27;145(8):2704-2720. doi: 10.1093/brain/awac117. Brain. 2022. PMID: 35441233 Free PMC article.
Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by thiamine-biotin supplementation.
Lim RG, Al-Dalahmah O, Wu J, Gold MP, Reidling JC, Tang G, Adam M, Dansu DK, Park HJ, Casaccia P, Miramontes R, Reyes-Ortiz AM, Lau A, Hickman RA, Khan F, Paryani F, Tang A, Ofori K, Miyoshi E, Michael N, McClure N, Flowers XE, Vonsattel JP, Davidson S, Menon V, Swarup V, Fraenkel E, Goldman JE, Thompson LM. Lim RG, et al. Among authors: goldman je. Nat Commun. 2022 Dec 21;13(1):7791. doi: 10.1038/s41467-022-35388-x. Nat Commun. 2022. PMID: 36543778 Free PMC article.
Reactive astrocyte nomenclature, definitions, and future directions.
Escartin C, Galea E, Lakatos A, O'Callaghan JP, Petzold GC, Serrano-Pozo A, Steinhäuser C, Volterra A, Carmignoto G, Agarwal A, Allen NJ, Araque A, Barbeito L, Barzilai A, Bergles DE, Bonvento G, Butt AM, Chen WT, Cohen-Salmon M, Cunningham C, Deneen B, De Strooper B, Díaz-Castro B, Farina C, Freeman M, Gallo V, Goldman JE, Goldman SA, Götz M, Gutiérrez A, Haydon PG, Heiland DH, Hol EM, Holt MG, Iino M, Kastanenka KV, Kettenmann H, Khakh BS, Koizumi S, Lee CJ, Liddelow SA, MacVicar BA, Magistretti P, Messing A, Mishra A, Molofsky AV, Murai KK, Norris CM, Okada S, Oliet SHR, Oliveira JF, Panatier A, Parpura V, Pekna M, Pekny M, Pellerin L, Perea G, Pérez-Nievas BG, Pfrieger FW, Poskanzer KE, Quintana FJ, Ransohoff RM, Riquelme-Perez M, Robel S, Rose CR, Rothstein JD, Rouach N, Rowitch DH, Semyanov A, Sirko S, Sontheimer H, Swanson RA, Vitorica J, Wanner IB, Wood LB, Wu J, Zheng B, Zimmer ER, Zorec R, Sofroniew MV, Verkhratsky A. Escartin C, et al. Among authors: goldman je, goldman sa. Nat Neurosci. 2021 Mar;24(3):312-325. doi: 10.1038/s41593-020-00783-4. Epub 2021 Feb 15. Nat Neurosci. 2021. PMID: 33589835 Free PMC article. Review.
218 results