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196 related items for PubMed ID: 23748049

  • 1. Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.
    Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczyński MR.
    Mitochondrion; 2013 Nov; 13(6):831-4. PubMed ID: 23748049
    [Abstract] [Full Text] [Related]

  • 2. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.
    Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR.
    Eur J Paediatr Neurol; 2007 Mar; 11(2):115-8. PubMed ID: 17254817
    [Abstract] [Full Text] [Related]

  • 3. [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]

  • 4. Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.
    Seo JH, Hwang JM, Park SS.
    Eye (Lond); 2010 Jan 25; 24(1):107-11. PubMed ID: 19247386
    [Abstract] [Full Text] [Related]

  • 5. [A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].
    Tong Y, Wang Y, Jiang F, Liu B, Zhang S, Yang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct 25; 25(5):531-3. PubMed ID: 18841565
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.
    Quiros PA, Torres RJ, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, De Negri A, Belfort R, Sadun AA.
    Br J Ophthalmol; 2006 Feb 15; 90(2):150-3. PubMed ID: 16424523
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 36():15-20. PubMed ID: 27721048
    [Abstract] [Full Text] [Related]

  • 9. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
    Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX.
    Invest Ophthalmol Vis Sci; 2014 Mar 06; 55(3):1321-31. PubMed ID: 24398099
    [Abstract] [Full Text] [Related]

  • 10. Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.
    Hwang JM, Kim J, Park SS.
    J Neurol; 2003 Jan 06; 250(1):87-9. PubMed ID: 12527998
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
    Chuenkongkaew W, Lertrit P, Suphavilai R.
    Southeast Asian J Trop Med Public Health; 2004 Mar 01; 35(1):167-8. PubMed ID: 15272763
    [Abstract] [Full Text] [Related]

  • 13. [The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].
    Mao YJ, Qu J, Guan MX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb 01; 25(1):45-9. PubMed ID: 18247303
    [Abstract] [Full Text] [Related]

  • 14. [Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy].
    Feng X, Pu W, Gao D.
    Zhonghua Yan Ke Za Zhi; 2001 May 01; 37(3):174-7. PubMed ID: 11864415
    [Abstract] [Full Text] [Related]

  • 15. Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.
    Piotrowska A, Korwin M, Bartnik E, Tońska K.
    Gene; 2015 Jan 15; 555(1):41-9. PubMed ID: 25261848
    [Abstract] [Full Text] [Related]

  • 16. Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy.
    Saikia BB, Dubey SK, Shanmugam MK, Sundaresan P.
    Mitochondrion; 2017 Sep 15; 36():21-28. PubMed ID: 27989883
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
    Hwang JM, Chang BL, Koh HJ, Kim JY, Park SS.
    J Korean Med Sci; 2002 Apr 27; 17(2):283-6. PubMed ID: 11961321
    [Abstract] [Full Text] [Related]

  • 19. A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy.
    Shiraishi W, Hayashi S, Kamada T, Isobe N, Yamasaki R, Murai H, Ohyagi Y, Kira J.
    Mult Scler; 2014 Feb 27; 20(2):258-60. PubMed ID: 24263387
    [Abstract] [Full Text] [Related]

  • 20. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.
    Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2002 Feb 27; 6(2):121-3. PubMed ID: 11995959
    [Abstract] [Full Text] [Related]

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