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Journal Abstract Search

132 related items for PubMed ID: 24138050

  • 1. 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; 28(5-6):422-6. PubMed ID: 24138050
    [Abstract] [Full Text] [Related]

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

  • 3. 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]

  • 4. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
    Formichi P, Radi E, Giorgi E, Gallus GN, Brunetti J, Battisti C, Rufa A, Dotti MT, Franceschini R, Bracci L, Federico A.
    J Neurol Sci; 2015 Apr 15; 351(1-2):99-108. PubMed ID: 25796301
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 48(2):820-4. PubMed ID: 17251483
    [Abstract] [Full Text] [Related]

  • 12. Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.
    Mozo-Cuadrado M, Tabuenca-Del Barrio L, Belzunce-Manterola A, Rodríguez-Ulecia I, Morales Garófalo LM.
    J Fr Ophtalmol; 2020 Mar 15; 43(3):e107-e108. PubMed ID: 31973973
    [No Abstract] [Full Text] [Related]

  • 13. 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 15; 143(4):656-62. PubMed ID: 17306754
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 94(7):e580-e585. PubMed ID: 26936288
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 382():29-35. PubMed ID: 29111013
    [Abstract] [Full Text] [Related]

  • 16. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
    Votruba M, Thiselton D, Bhattacharya SS.
    Br J Ophthalmol; 2003 Jan 15; 87(1):48-53. PubMed ID: 12488262
    [Abstract] [Full Text] [Related]

  • 17. Optic disc evaluation in optic neuropathies: the optic disc assessment project.
    O'Neill EC, Danesh-Meyer HV, Kong GX, Hewitt AW, Coote MA, Mackey DA, Crowston JG, Optic Nerve Study Group.
    Ophthalmology; 2011 May 15; 118(5):964-70. PubMed ID: 21126771
    [Abstract] [Full Text] [Related]

  • 18. Macular sensitivity and fixation patterns in patients with autosomal dominant optic atrophy.
    Rönnbäck C, Larsen M.
    Dan Med J; 2014 Sep 15; 61(9):A4888. PubMed ID: 25186535
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 43(6):1715-24. PubMed ID: 12036970
    [Abstract] [Full Text] [Related]

  • 20. [Genetic basis of hereditary optic atrophies].
    Wawrocka A, Krawczyński MR.
    Klin Oczna; 2007 Jun 15; 109(10-12):470-4. PubMed ID: 18488399
    [Abstract] [Full Text] [Related]

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