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Journal Abstract Search

268 related items for PubMed ID: 36287157

  • 1. [Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].
    Andreeva NA, Murakhovskaya YK, Tsygankova PG, Krilova TD, Sheremet NL.
    Vestn Oftalmol; 2022; 138(5. Vyp. 2):208-214. PubMed ID: 36287157
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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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  • 5. Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.
    Ahn YJ, Park Y, Shin SY, Chae H, Kim M, Park SH.
    Graefes Arch Clin Exp Ophthalmol; 2020 Oct; 258(10):2283-2290. PubMed ID: 32506279
    [Abstract] [Full Text] [Related]

  • 6. [Past, present, and future in Leber's hereditary optic neuropathy].
    Oguchi Y.
    Nippon Ganka Gakkai Zasshi; 2001 Dec; 105(12):809-27. PubMed ID: 11802455
    [Abstract] [Full Text] [Related]

  • 7. [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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  • 10. 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 Jul 11; 36(4):291-8. PubMed ID: 24417559
    [Abstract] [Full Text] [Related]

  • 11. A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy.
    Iorga RE, Munteanu-Dănulescu RS, Danielescu C.
    Rom J Ophthalmol; 2024 Jul 11; 68(1):65-71. PubMed ID: 38617721
    [Abstract] [Full Text] [Related]

  • 12. Leber's hereditary optic neuropathy with childhood onset.
    Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V.
    Invest Ophthalmol Vis Sci; 2006 Dec 11; 47(12):5303-9. PubMed ID: 17122117
    [Abstract] [Full Text] [Related]

  • 13. Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
    Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX.
    Ophthalmology; 2011 May 11; 118(5):978-85. PubMed ID: 21131053
    [Abstract] [Full Text] [Related]

  • 14. ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.
    Behbehani R, Melhem M, Alghanim G, Behbehani K, Alsmadi O.
    Br J Ophthalmol; 2014 Jun 11; 98(6):826-31. PubMed ID: 24568867
    [Abstract] [Full Text] [Related]

  • 15. [Sudden blindness: consider Leber's hereditary optic neuropathy].
    Schieving JH, de Vries BB, Hol F, Stroink H.
    Ned Tijdschr Geneeskd; 2008 Oct 25; 152(43):2313-6. PubMed ID: 19024058
    [Abstract] [Full Text] [Related]

  • 16. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.
    Ramos Cdo V, Bellusci C, Savini G, Carbonelli M, Berezovsky A, Tamaki C, Cinoto R, Sacai PY, Moraes-Filho MN, Miura HM, Valentino ML, Iommarini L, De Negri AM, Sadun F, Cortelli P, Montagna P, Salomao SR, Sadun AA, Carelli V, Barboni P.
    Invest Ophthalmol Vis Sci; 2009 Apr 25; 50(4):1666-74. PubMed ID: 19098324
    [Abstract] [Full Text] [Related]

  • 17. [Long-term changes in morphological and functional parameters of the optic nerve in patients with various genetic variants of hereditary optic neuropathies].
    Murakhovskaya YK, Andreeva NA, Tsygankova PG, Krylova TD, Sheremet NL.
    Vestn Oftalmol; 2023 Apr 25; 139(6):77-86. PubMed ID: 38235633
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 42(4):440-445. PubMed ID: 33858285
    [Abstract] [Full Text] [Related]

  • 19. Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
    Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V.
    BMC Med Genet; 2018 Jul 27; 19(1):129. PubMed ID: 30053855
    [Abstract] [Full Text] [Related]

  • 20. 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 27; 36():15-20. PubMed ID: 27721048
    [Abstract] [Full Text] [Related]

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