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    Results: 1 to 20 of 297

    1.

    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

    2.

    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

    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.

    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

    5.

    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

    6.

    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

    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.

    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

    9.

    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

    10.

    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

    11.

    OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

    Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.

    Hum Mol Genet. 2001 Jun 15;10(13):1359-68.PMID: 11440988 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    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

    13.

    A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

    Chen S, Zhang Y, Wang Y, Li W, Huang S, Chu X, Wang L, Zhang M, Liu Z.

    Am J Ophthalmol. 2007 Jan;143(1):186-188.PMID: 17188070 [PubMed - indexed for MEDLINE]Related articles

    14.

    Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

    Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.

    Hum Mutat. 2003 Jun;21(6):656.PMID: 14961560 [PubMed - indexed for MEDLINE]Related articles

    15.

    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

    16.

    eOPA1: an online database for OPA1 mutations.

    Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P.

    Hum Mutat. 2005 May;25(5):423-8.PMID: 15832306 [PubMed - indexed for MEDLINE]Related articles

    17.

    Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.

    Mayorov VI, Lowrey AJ, Biousse V, Newman NJ, Cline SD, Brown MD.

    BMC Biochem. 2008 Sep 10;9:22.PMID: 18783614 [PubMed - indexed for MEDLINE]Related articlesFree article

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

    19.

    OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

    Pierron D, Ferré M, Rocher C, Chevrollier A, Murail P, Thoraval D, Amati-Bonneau P, Reynier P, Letellier T.

    BMC Med Genet. 2009 Jul 20;10:70.PMID: 19619285 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

    Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI.

    Am J Med Genet A. 2005 Oct 15;138A(3):208-11.PMID: 16158427 [PubMed - indexed for MEDLINE]Related articles

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