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Journal Abstract Search

176 related items for PubMed ID: 22042570

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  • 4. First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.
    Kamakari S, Koutsodontis G, Tsilimbaris M, Fitsios A, Chrousos G.
    Mol Vis; 2014; 20():691-703. PubMed ID: 24883014
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  • 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; 43(6):1715-24. PubMed ID: 12036970
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  • 11. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
    Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R.
    Ophthalmic Genet; 2018 Oct; 39(5):569-576. PubMed ID: 29952689
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  • 14. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
    Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N.
    Am J Ophthalmol; 2003 Feb; 135(2):256-7. PubMed ID: 12566046
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  • 15. 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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