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Journal Abstract Search


299 related items for PubMed ID: 32969847

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  • 9. Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation.
    Mashima Y, Kigasawa K, Shinoda K, Wakakura M, Oguchi Y.
    BMC Ophthalmol; 2017 Oct 18; 17(1):192. PubMed ID: 29047345
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  • 10. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX.
    Hum Mol Genet; 2016 Feb 01; 25(3):584-96. PubMed ID: 26647310
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  • 13. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S.
    Graefes Arch Clin Exp Ophthalmol; 2002 Sep 01; 240(9):758-64. PubMed ID: 12271374
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  • 15. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
    Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
    Mitochondrion; 2017 Sep 01; 36():15-20. PubMed ID: 27721048
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  • 16. Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.
    Nie Z, Wang C, Chen J, Ji Y, Zhang H, Zhao F, Zhou X, Guan MX.
    Hum Mol Genet; 2023 Jan 06; 32(2):231-243. PubMed ID: 35947995
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  • 20. Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.
    McDonald HM, Sadikovic B, Sheldon CA, Bursztyn LLCD.
    Can J Neurol Sci; 2023 Sep 06; 50(5):738-744. PubMed ID: 35892476
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