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Journal Abstract Search

350 related items for PubMed ID: 31605306

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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Yu-Wai-Man P, Chinnery PF.
    ; 1993. PubMed ID: 20301353
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  • 4. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
    Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K.
    Invest Ophthalmol Vis Sci; 2017 Aug 01; 58(10):3923-3930. PubMed ID: 28768321
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  • 5. Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
    Yang TC, Yarmishyn AA, Yang YP, Lu PC, Chou SJ, Wang ML, Lin TC, Hwang DK, Chou YB, Chen SJ, Yu WK, Wang AG, Hsu CC, Chiou SH.
    Hum Mol Genet; 2020 Jun 03; 29(9):1454-1464. PubMed ID: 32277753
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  • 9. Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
    Peron C, Mauceri R, Cabassi T, Segnali A, Maresca A, Iannielli A, Rizzo A, Sciacca FL, Broccoli V, Carelli V, Tiranti V.
    Stem Cell Res; 2020 Oct 03; 48():101939. PubMed ID: 32771908
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  • 12. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX.
    Hum Mol Genet; 2016 Aug 15; 25(16):3613-3625. PubMed ID: 27427386
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  • 15. DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy.
    Wiggs JL.
    J Clin Invest; 2021 Mar 15; 131(6):. PubMed ID: 33720041
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  • 16. [Medical treatments in Leber's hereditary optic neuropathy].
    Hage R.
    J Fr Ophtalmol; 2022 Nov 15; 45(8S1):S24-S31. PubMed ID: 36529474
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  • 19. Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
    Liang M, Ji Y, Zhang L, Wang X, Hu C, Zhang J, Zhu Y, Mo JQ, Guan MX.
    Hum Mol Genet; 2022 Sep 29; 31(19):3299-3312. PubMed ID: 35567411
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