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Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
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.
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.
Chekuri A, Logan EM, Krauson AJ, Salani M, Ackerman S, Kirchner EG, Bolduc JM, Wang X, Dietrich P, Dragatsis I, Vandenberghe LH, Slaugenhaupt SA, Morini E.
Chekuri A, et al. Among authors: kirchner eg.
Hum Mol Genet. 2022 Jun 4;31(11):1776-1787. doi: 10.1093/hmg/ddab359.
Hum Mol Genet. 2022.
PMID: 34908112
Free PMC article.
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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.
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.
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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.
PMID: 37808686
Free PMC article.
Updated.
Preprint.
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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.
Sci Rep. 2023 Oct 30;13(1):18600. doi: 10.1038/s41598-023-45376-w.
Sci Rep. 2023.
PMID: 37903840
Free PMC article.
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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 Jan 4;14(1):570. doi: 10.1038/s41598-023-51137-6.
Sci Rep. 2024.
PMID: 38177237
Free PMC article.
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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.
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