These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Barboni P; Savini G; Cascavilla ML; Caporali L; Milesi J; Borrelli E; La Morgia C; Valentino ML; Triolo G; Lembo A; Carta A; De Negri A; Sadun F; Rizzo G; Parisi V; Pierro L; Bianchi Marzoli S; Zeviani M; Sadun AA; Bandello F; Carelli V Am J Ophthalmol; 2014 Sep; 158(3):628-36.e3. PubMed ID: 24907432 [TBL] [Abstract][Full Text] [Related]
9. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Puomila A; Huoponen K; Mäntyjärvi M; Hämäläinen P; Paananen R; Sankila EM; Savontaus ML; Somer M; Nikoskelainen E Acta Ophthalmol Scand; 2005 Jun; 83(3):337-46. PubMed ID: 15948788 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 38278202 [TBL] [Abstract][Full Text] [Related]
11. Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. Chen Y; Jia X; Wang P; Xiao X; Li S; Guo X; Zhang Q Mol Vis; 2013; 19():292-302. PubMed ID: 23401657 [TBL] [Abstract][Full Text] [Related]
12. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. Yen MY; Wang AG; Lin YC; Fann MJ; Hsiao KJ Ophthalmology; 2010 Feb; 117(2):392-6.e1. PubMed ID: 19969356 [TBL] [Abstract][Full Text] [Related]
13. The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy. Inoue M; Himori N; Kunikata H; Takeshita T; Aizawa N; Shiga Y; Omodaka K; Nishiguchi KM; Takahashi H; Nakazawa T Acta Ophthalmol; 2016 Nov; 94(7):e580-e585. PubMed ID: 26936288 [TBL] [Abstract][Full Text] [Related]
14. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Thiselton DL; Alexander C; Morris A; Brooks S; Rosenberg T; Eiberg H; Kjer B; Kjer P; Bhattacharya SS; Votruba M Hum Genet; 2001 Nov; 109(5):498-502. PubMed ID: 11735024 [TBL] [Abstract][Full Text] [Related]
19. First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report. Weisschuh N; Mazzola P; Heinrich T; Haack T; Wissinger B; Tonagel F; Kelbsch C BMC Med Genet; 2020 Nov; 21(1):236. PubMed ID: 33243194 [TBL] [Abstract][Full Text] [Related]
20. Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. Rocca MA; Bianchi-Marzoli S; Messina R; Cascavilla ML; Zeviani M; Lamperti C; Milesi J; Carta A; Cammarata G; Leocani L; Lamantea E; Bandello F; Comi G; Falini A; Filippi M J Neurol; 2015 May; 262(5):1216-27. PubMed ID: 25794858 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]