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Page 1
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Morini E, Chekuri A, Logan EM, Bolduc JM, Kirchner EG, Salani M, Krauson AJ, Narasimhan J, Gabbeta V, Grover S, Dakka A, Mollin A, Jung SP, Zhao X, Zhang N, Zhang S, Arnold M, Woll MG, Naryshkin NA, Weetall M, Slaugenhaupt SA. Morini E, et al. Among authors: kirchner eg. Am J Hum Genet. 2023 Mar 2;110(3):531-547. doi: 10.1016/j.ajhg.2023.01.019. Epub 2023 Feb 20. Am J Hum Genet. 2023. PMID: 36809767 Free PMC article.
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. bioRxiv [Preprint]. 2023 May 24:2023.05.22.541535. doi: 10.1101/2023.05.22.541535. bioRxiv. 2023. Update in: Sci Rep. 2023 Oct 30;13(1):18600. doi: 10.1038/s41598-023-45376-w PMID: 37293016 Free PMC article. Updated. Preprint.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S. Harripaul R, et al. bioRxiv [Preprint]. 2023 Oct 11:2023.09.28.559870. doi: 10.1101/2023.09.28.559870. bioRxiv. 2023. Update in: Sci Rep. 2024 Jan 4;14(1):570. doi: 10.1038/s41598-023-51137-6 PMID: 37808686 Free PMC article. Updated. Preprint.
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S. Harripaul R, et al. Sci Rep. 2024 May 2;14(1):10103. doi: 10.1038/s41598-024-60576-8. Sci Rep. 2024. PMID: 38698036 Free PMC article. No abstract available.