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    Results: 1 to 20 of 303

    1.

    Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

    Votruba M, Thiselton D, Bhattacharya SS.

    Br J Ophthalmol. 2003 Jan;87(1):48-53.PMID: 12488262 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma.

    Fournier AV, Damji KF, Epstein DL, Pollock SC.

    Ophthalmology. 2001 Sep;108(9):1595-602.PMID: 11535456 [PubMed - indexed for MEDLINE]Related articles

    3.

    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.PMID: 12036970 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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. Epub 2008 Jul 24.PMID: 18653586 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.PMID: 17724190 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

    Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H.

    Ophthalmology. 2006 Mar;113(3):483-488.e1.PMID: 16513463 [PubMed - indexed for MEDLINE]Related articles

    7.

    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.PMID: 19181907 [PubMed - indexed for MEDLINE]Related articles

    8.

    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. Epub 2007 Feb 15.PMID: 17306754 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.PMID: 12543739 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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.PMID: 15948788 [PubMed - indexed for MEDLINE]Related articles

    11.

    Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

    Li Y, Deng T, Tong Y, Peng S, Dong B, He D.

    Mol Vis. 2008;14:2451-7. Epub 2008 Dec 29.PMID: 19112530 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

    Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM.

    Arch Ophthalmol. 1997 Jan;115(1):95-9. Erratum in: Arch Ophthalmol 1997 May;115(5):663. PMID: 9006432 [PubMed - indexed for MEDLINE]Related articles

    13.

    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. Epub 2007 Feb 21.PMID: 17314202 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

    Kim JY, Hwang JM, Ko HS, Seong MW, Park BJ, Park SS.

    Neurology. 2005 Mar 22;64(6):966-72.PMID: 15781809 [PubMed - indexed for MEDLINE]Related articles

    15.

    Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

    Gränse L, Bergstrand I, Thiselton D, Ponjavic V, Heijl A, Votruba M, Andréasson S.

    Ophthalmic Genet. 2003 Dec;24(4):233-45.PMID: 14566653 [PubMed - indexed for MEDLINE]Related articles

    16.

    OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

    Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.

    Nat Genet. 2000 Oct;26(2):211-5.PMID: 11017080 [PubMed - indexed for MEDLINE]Related articles

    17.

    Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.

    Davies VJ, Hollins AJ, Piechota MJ, Yip W, Davies JR, White KE, Nicols PP, Boulton ME, Votruba M.

    Hum Mol Genet. 2007 Jun 1;16(11):1307-18. Epub 2007 Apr 11.PMID: 17428816 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

    Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M.

    Exp Eye Res. 2006 Sep;83(3):702-6. Epub 2006 May 12.PMID: 16698014 [PubMed - indexed for MEDLINE]Related articles

    19.

    The cupped disc. Who needs neuroimaging?

    Greenfield DS, Siatkowski RM, Glaser JS, Schatz NJ, Parrish RK 2nd.

    Ophthalmology. 1998 Oct;105(10):1866-74.PMID: 9787356 [PubMed - indexed for MEDLINE]Related articles

    20.

    Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations.

    Miyata K, Nakamura M, Kondo M, Lin J, Ueno S, Miyake Y, Terasaki H.

    Invest Ophthalmol Vis Sci. 2007 Feb;48(2):820-4.PMID: 17251483 [PubMed - indexed for MEDLINE]Related articlesFree article

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