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Journal Abstract Search

159 related items for PubMed ID: 37498569

  • 21. 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. PubMed ID: 17314202
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  • 27. 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 01; 16(11):1307-18. PubMed ID: 17428816
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  • 28. Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.
    Lei Q, Xiang K, Cheng L, Xiang M.
    Stem Cell Reports; 2024 Jan 09; 19(1):68-83. PubMed ID: 38101398
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  • 30. Optical coherence tomography shows early loss of the inferior temporal quadrant retinal nerve fiber layer in autosomal dominant optic atrophy.
    Park SW, Hwang JM.
    Graefes Arch Clin Exp Ophthalmol; 2015 Jan 09; 253(1):135-41. PubMed ID: 25408424
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  • 31. 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. PubMed ID: 18783614
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  • 32. 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 10; 41(10):1855-65. PubMed ID: 19389487
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  • 33. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
    Votruba M, Thiselton D, Bhattacharya SS.
    Br J Ophthalmol; 2003 Jan 10; 87(1):48-53. PubMed ID: 12488262
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  • 35. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.
    White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M.
    Invest Ophthalmol Vis Sci; 2009 Jun 10; 50(6):2567-71. PubMed ID: 19234344
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  • 36. Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.
    Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV.
    Invest Ophthalmol Vis Sci; 2010 Mar 10; 51(3):1424-31. PubMed ID: 19834041
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  • 38. Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.
    Jin X, Chen YH, Liu Z, Deng Y, Li NN, Huang H, Qi M, Yi X, Zhu J.
    Genet Mol Res; 2015 Sep 21; 14(3):10961-72. PubMed ID: 26400325
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  • 40. 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 21; 43(6):1715-24. PubMed ID: 12036970
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