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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. Lenaers G, et al. Among authors: kim us. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: kim us. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
Optic neuropathy associated with Castleman disease.
Kim U, Hwang JM. Kim U, et al. Korean J Ophthalmol. 2010 Aug;24(4):256-9. doi: 10.3341/kjo.2010.24.4.256. Epub 2010 Aug 3. Korean J Ophthalmol. 2010. PMID: 20714393 Free PMC article.
139 results