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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: kirchner e. Sci Rep. 2023 Oct 30;13(1):18600. doi: 10.1038/s41598-023-45376-w. Sci Rep. 2023. PMID: 37903840 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. Among authors: kirchner e. bioRxiv [Preprint]. 2023 May 24:2023.05.22.541535. doi: 10.1101/2023.05.22.541535. bioRxiv. 2023. PMID: 37293016 Free PMC article. Updated. Preprint.
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.
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. Among authors: kirchner e. Sci Rep. 2024 Jan 4;14(1):570. doi: 10.1038/s41598-023-51137-6. Sci Rep. 2024. PMID: 38177237 Free PMC article.
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. Among authors: kirchner e. 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.
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. Among authors: kirchner e. bioRxiv [Preprint]. 2023 Oct 11:2023.09.28.559870. doi: 10.1101/2023.09.28.559870. bioRxiv. 2023. PMID: 37808686 Free PMC article. Updated. Preprint.