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3. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Ham M; Han J; Osann K; Smith M; Kimonis V Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240 [TBL] [Abstract][Full Text] [Related]
4. First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation. Kamakari S; Koutsodontis G; Tsilimbaris M; Fitsios A; Chrousos G Mol Vis; 2014; 20():691-703. PubMed ID: 24883014 [TBL] [Abstract][Full Text] [Related]
5. Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation. Russo A; Delcassi L; Marchina E; Semeraro F Ophthalmic Genet; 2013; 34(1-2):69-74. PubMed ID: 22779427 [TBL] [Abstract][Full Text] [Related]
6. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. Ito Y; Nakamura M; Yamakoshi T; Lin J; Yatsuya H; Terasaki H Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4079-86. PubMed ID: 17724190 [TBL] [Abstract][Full Text] [Related]
7. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970 [TBL] [Abstract][Full Text] [Related]
8. The natural history of OPA1-related autosomal dominant optic atrophy. Cohn AC; Toomes C; Hewitt AW; Kearns LS; Inglehearn CF; Craig JE; Mackey DA Br J Ophthalmol; 2008 Oct; 92(10):1333-6. PubMed ID: 18653586 [TBL] [Abstract][Full Text] [Related]
9. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. Fuhrmann N; Alavi MV; Bitoun P; Woernle S; Auburger G; Leo-Kottler B; Yu-Wai-Man P; Chinnery P; Wissinger B J Med Genet; 2009 Feb; 46(2):136-44. PubMed ID: 19181907 [TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy. Rönnbäck C; Nissen C; Almind GJ; Grønskov K; Milea D; Larsen M Acta Ophthalmol; 2015 Dec; 93(8):762-6. PubMed ID: 26385429 [TBL] [Abstract][Full Text] [Related]
11. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754 [TBL] [Abstract][Full Text] [Related]
12. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. Almind GJ; Grønskov K; Milea D; Larsen M; Brøndum-Nielsen K; Ek J BMC Med Genet; 2011 Apr; 12():49. PubMed ID: 21457585 [TBL] [Abstract][Full Text] [Related]
13. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104 [TBL] [Abstract][Full Text] [Related]
14. The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Aung T; Okada K; Poinoosawmy D; Membrey L; Brice G; Child AH; Bhattacharya SS; Lehmann OJ; Garway-Heath DF; Hitchings RA Br J Ophthalmol; 2003 Feb; 87(2):149-52. PubMed ID: 12543739 [TBL] [Abstract][Full Text] [Related]
15. Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects. Rönnbäck C; Grønskov K; Larsen M Acta Ophthalmol; 2014 Nov; 92(7):670-4. PubMed ID: 24612963 [TBL] [Abstract][Full Text] [Related]
16. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. Hayashi T; Sasano H; Katagiri S; Tsunoda K; Kameya S; Nakazawa M; Iwata T; Tsuneoka H Jpn J Ophthalmol; 2017 Sep; 61(5):395-401. PubMed ID: 28668999 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Alavi MV; Bette S; Schimpf S; Schuettauf F; Schraermeyer U; Wehrl HF; Ruttiger L; Beck SC; Tonagel F; Pichler BJ; Knipper M; Peters T; Laufs J; Wissinger B Brain; 2007 Apr; 130(Pt 4):1029-42. PubMed ID: 17314202 [TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. Li H; Jones EM; Li H; Yang L; Sun Z; Yuan Z; Chen R; Dong F; Sui R Ophthalmic Genet; 2018 Oct; 39(5):569-576. PubMed ID: 29952689 [TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families. Pretegiani E; Rosini F; Rufa A; Gallus GN; Cardaioli E; Da Pozzo P; Bianchi S; Serchi V; Collura M; Franceschini R; Bianchi Marzoli S; Dotti MT; Federico A J Neurol Sci; 2017 Nov; 382():29-35. PubMed ID: 29111013 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]