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Journal Abstract Search

368 related items for PubMed ID: 33858285

  • 1. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
    Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J.
    Ophthalmic Genet; 2021 Aug; 42(4):440-445. PubMed ID: 33858285
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  • 2. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
    Jin X, Wang L, Gong Y, Chen B, Wang Y, Chen T, Wei S.
    Ophthalmic Genet; 2015 Aug; 36(4):291-8. PubMed ID: 24417559
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  • 5. [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation].
    Sun Y, Lei K, Xu ZL, Geng Y.
    Zhonghua Yan Ke Za Zhi; 2018 Jul 11; 54(7):526-534. PubMed ID: 29996615
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Yu-Wai-Man P, Chinnery PF.
    ; 1993 Jul 11. PubMed ID: 20301353
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  • 9. Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
    Berardo A, Emmanuele V, Vargas W, Tanji K, Naini A, Hirano M.
    J Neurol; 2020 Mar 11; 267(3):823-829. PubMed ID: 31776719
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  • 10. 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 11; 36():15-20. PubMed ID: 27721048
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  • 15. Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.
    Korkiamäki P, Kervinen M, Karjalainen K, Majamaa K, Uusimaa J, Remes AM.
    Acta Ophthalmol; 2013 Nov 11; 91(7):630-4. PubMed ID: 22970697
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  • 16. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
    Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H.
    Brain; 2024 Jun 03; 147(6):1967-1974. PubMed ID: 38478578
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  • 17. Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.
    Amaral-Fernandes MS, Marcondes AM, do Amor Divino Miranda PM, Maciel-Guerra AT, Sartorato EL.
    Mol Vis; 2011 Jun 03; 17():3175-9. PubMed ID: 22194643
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  • 19. Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.
    Yum HR, Chae H, Shin SY, Kim Y, Kim M, Park SH.
    Invest Ophthalmol Vis Sci; 2014 Oct 23; 55(12):8095-101. PubMed ID: 25342614
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