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135 related items for PubMed ID: 20141358

  • 1. Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
    Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA.
    Ophthalmic Genet; 2010 Mar; 31(1):44-6. PubMed ID: 20141358
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
    Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P.
    Hum Mutat; 2009 Jul; 30(7):E692-705. PubMed ID: 19319978
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 17724190
    [Abstract] [Full Text] [Related]

  • 6. 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. PubMed ID: 17251483
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 15781809
    [Abstract] [Full Text] [Related]

  • 8. 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 22; 43(6):1715-24. PubMed ID: 12036970
    [Abstract] [Full Text] [Related]

  • 9. Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.
    Skidd PM, Lessell S, Cestari DM.
    Semin Ophthalmol; 2013 Jun 22; 28(5-6):422-6. PubMed ID: 24138050
    [Abstract] [Full Text] [Related]

  • 10. [Genetic basis of hereditary optic atrophies].
    Wawrocka A, Krawczyński MR.
    Klin Oczna; 2007 Jun 22; 109(10-12):470-4. PubMed ID: 18488399
    [Abstract] [Full Text] [Related]

  • 11. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
    Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.
    Am J Ophthalmol; 2004 Nov 22; 138(5):749-55. PubMed ID: 15531309
    [Abstract] [Full Text] [Related]

  • 12. Hereditary optic neuropathies share a common mitochondrial coupling defect.
    Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.
    Ann Neurol; 2008 Jun 22; 63(6):794-8. PubMed ID: 18496845
    [Abstract] [Full Text] [Related]

  • 13. 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 22; 83(3):337-46. PubMed ID: 15948788
    [Abstract] [Full Text] [Related]

  • 14. eOPA1: an online database for OPA1 mutations.
    Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P.
    Hum Mutat; 2005 May 22; 25(5):423-8. PubMed ID: 15832306
    [Abstract] [Full Text] [Related]

  • 15. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
    Ke T, Nie SW, Yang QB, Liu JP, Zhou LN, Ren X, Liu JY, Wang Q, Liu MG.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct 22; 23(5):481-5. PubMed ID: 17029191
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 83(3):702-6. PubMed ID: 16698014
    [Abstract] [Full Text] [Related]

  • 17. 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 22; 92(7):670-4. PubMed ID: 24612963
    [Abstract] [Full Text] [Related]

  • 18. 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 22; 21(6):656. PubMed ID: 14961560
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 109(5):498-502. PubMed ID: 11735024
    [Abstract] [Full Text] [Related]

  • 20. OPA1-associated disorders: phenotypes and pathophysiology.
    Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P.
    Int J Biochem Cell Biol; 2009 Oct 22; 41(10):1855-65. PubMed ID: 19389487
    [Abstract] [Full Text] [Related]

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