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名词信息
中 文 名:
显性遗传性视神经萎缩
英 文 名:
dominant hereditary optic atrophy
中文又称:
显性遗传性视神经病变
中文曾称:
名词来源:
所属专业:
眼科
所属类别:
疾病诊断名词
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Pubmed相关的文献
dominant hereditary optic atrophy
相关文献:
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B.
Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17.
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Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P.
Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5.
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Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.
Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
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Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.
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Semin Pediatr Neurol. 2017 May;24(2):129-134. doi: 10.1016/j.spen.2017.06.001. Epub 2017 Jun 30.
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Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM.
Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9.
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[Hereditary Optic Neuropathies].
Rüther K.
Klin Monbl Augenheilkd. 2018 Jun;235(6):747-763. doi: 10.1055/a-0583-6290. Epub 2018 Feb 28.
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Hereditary optic neuropathies.
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Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.
PMID:15534600
Mitochondrial Retinopathies.
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Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210.
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Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y, Wang P, Li S, Long Y, Jiang Y, Guo D, Jia X, Liu M, Zeng Y, Xiao X, Hejtmancik JF, Zhang Q, Sun W.
Brain. 2025 May 13;148(5):1604-1620. doi: 10.1093/brain/awae324.
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Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
Wang C, Zhang L, Nie Z, Liang M, Liu H, Yi Q, Wang C, Ai C, Zhang J, Gao Y, Ji Y, Guan MX.
JCI Insight. 2024 Nov 19;10(1):e182209. doi: 10.1172/jci.insight.182209.
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