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Journal Abstract Search

211 related items for PubMed ID: 15832306

  • 1. 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. PubMed ID: 15832306
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
    Ferré M, Caignard A, Milea D, Leruez S, Cassereau J, Chevrollier A, Amati-Bonneau P, Verny C, Bonneau D, Procaccio V, Reynier P.
    Hum Mutat; 2015 Jan; 36(1):20-5. PubMed ID: 25243597
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  • 4. 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
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  • 5. 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
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  • 6. 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. PubMed ID: 14961560
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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. PubMed ID: 16698014
    [Abstract] [Full Text] [Related]

  • 9. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
    Schimpf S, Fuhrmann N, Schaich S, Wissinger B.
    Hum Mutat; 2008 Jan; 29(1):106-12. PubMed ID: 17722006
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  • 11. 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; 41(10):1855-65. PubMed ID: 19389487
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  • 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. PubMed ID: 15781809
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  • 16. 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
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  • 20. [Genetic basis of hereditary optic atrophies].
    Wawrocka A, Krawczyński MR.
    Klin Oczna; 2007 Oct 22; 109(10-12):470-4. PubMed ID: 18488399
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