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Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Schultz A, Cheng SY, Kirchner E, Costello S, Miettinen H, Chaverra M, King C, George L, Zhao X, Narasimhan J, Weetall M, Slaugenhaupt S, Morini E, Punzo C, Lefcort F. Schultz A, et al. Among authors: morini e. Sci Rep. 2023 Oct 30;13(1):18600. doi: 10.1038/s41598-023-45376-w. Sci Rep. 2023. PMID: 37903840 Free PMC article.
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
Sancisi V, Germinario E, Esposito A, Morini E, Peron S, Moggio M, Tomelleri G, Danieli-Betto D, Tupler R. Sancisi V, et al. Among authors: morini e. Am J Physiol Regul Integr Comp Physiol. 2014 Jan 15;306(2):R124-37. doi: 10.1152/ajpregu.00379.2013. Epub 2013 Dec 4. Am J Physiol Regul Integr Comp Physiol. 2014. PMID: 24305066 Free PMC article.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. Morini E, et al. Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905397 Free PMC article.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Among authors: morini e. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Morini E, et al. J Genet Genomics. 2022 Jul;49(7):654-665. doi: 10.1016/j.jgg.2021.11.011. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896608 Free PMC article.
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I, Ronzitti G, Morini E, Slaugenhaupt SA, Pagani F. Romano G, et al. Among authors: morini e. Am J Hum Genet. 2022 Aug 4;109(8):1534-1548. doi: 10.1016/j.ajhg.2022.07.004. Epub 2022 Jul 28. Am J Hum Genet. 2022. PMID: 35905737 Free PMC article.
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