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名词信息
中 文 名:
家族遗传性视神经萎缩
英 文 名:
family hereditary optic atrophy
中文又称:
中文曾称:
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眼科
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疾病诊断名词
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Pubmed相关的文献
family hereditary optic atrophy
相关文献:
Hereditary optic neuropathies.
Newman NJ, Biousse V.
Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.
PMID:15534600
Hereditary optic neuropathies.
Biousse V, Newman NJ.
Ophthalmol Clin North Am. 2001 Sep;14(3):547-68. doi: 10.1016/s0896-1549(05)70252-2.
PMID:11705154
[Hereditary Optic Neuropathies].
Rüther K.
Klin Monbl Augenheilkd. 2018 Jun;235(6):747-763. doi: 10.1055/a-0583-6290. Epub 2018 Feb 28.
PMID:29490390
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.
PMID:39561005
Family and genetic counseling in Leber hereditary optic neuropathy.
Mackey DA, Staffieri SE, Lopez Sanchez MIG, Kearns LS.
Ophthalmic Genet. 2025 Apr;46(2):101-109. doi: 10.1080/13816810.2025.2451175. Epub 2025 Jan 20.
PMID:39833125
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.
PMID:39423307
Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.
Petrović Pajić S, Suštar Habjan M, Brecelj J, Fakin A, Volk M, Maver A, Jezernik G, Peterlin B, Glavač D, Hawlina M, Jarc-Vidmar M.
J Neuroophthalmol. 2023 Sep 1;43(3):341-347. doi: 10.1097/WNO.0000000000001820. Epub 2023 Mar 10.
PMID:36897664
Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.
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Clin Exp Ophthalmol. 2025 Apr;53(3):292-301. doi: 10.1111/ceo.14493. Epub 2025 Feb 2.
PMID:39895156
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.
Yu J, Liang X, Ji Y, Ai C, Liu J, Zhu L, Nie Z, Jin X, Wang C, Zhang J, Zhao F, Mei S, Zhao X, Zhou X, Zhang M, Wang M, Huang T, Jiang P, Guan MX.
J Clin Invest. 2020 Sep 1;130(9):4935-4946. doi: 10.1172/JCI134965.
PMID:32516135
Hereditary optic atrophy in family with keratodermia palmaris et plantaris (tylosis).
DIMSDALE H.
Proc R Soc Med. 1949 Oct;42(10):796. doi: 10.1177/003591574904201010.
PMID:15393222
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