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dominant hereditary optic atrophy 相关文献:
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.
PMID:22776096
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.
PMID:36813316
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.
Chun BY, Rizzo JF 3rd.
Semin Pediatr Neurol. 2017 May;24(2):129-134. doi: 10.1016/j.spen.2017.06.001. Epub 2017 Jun 30.
PMID:28941528
[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
Hereditary optic neuropathies.
Newman NJ, Biousse V.
Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.
PMID:15534600
Mitochondrial Retinopathies.
Zeviani M, Carelli V.
Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210.
PMID:35008635
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
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C.
Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24.
PMID:38278202
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.
PMID:33340656
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.
PMID:36764396
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