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Journal Abstract Search

386 related items for PubMed ID: 11935318

  • 1. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.
    Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC.
    Hum Genet; 2002 Feb; 110(2):130-8. PubMed ID: 11935318
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  • 5. Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.
    Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K.
    Invest Ophthalmol Vis Sci; 2013 Jun 10; 54(6):3999-4005. PubMed ID: 23674761
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  • 9. Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.
    Howell N, Herrnstadt C, Shults C, Mackey DA.
    Am J Med Genet A; 2003 Jun 01; 119A(2):147-51. PubMed ID: 12749053
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  • 10. Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.
    Carelli V, Vergani L, Bernazzi B, Zampieron C, Bucchi L, Valentino M, Rengo C, Torroni A, Martinuzzi A.
    Biochim Biophys Acta; 2002 Oct 09; 1588(1):7-14. PubMed ID: 12379308
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  • 12. 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 Oct 09; 36(4):291-8. PubMed ID: 24417559
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  • 13. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
    Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V.
    PLoS Genet; 2018 Feb 09; 14(2):e1007210. PubMed ID: 29444077
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  • 15. Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.
    Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P.
    J Neuroophthalmol; 2006 Dec 09; 26(4):264-7. PubMed ID: 17204919
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  • 16. Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.
    Sudoyo H, Suryadi H, Lertrit P, Pramoonjago P, Lyrawati D, Marzuki S.
    J Hum Genet; 2002 Dec 09; 47(11):594-604. PubMed ID: 12436196
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  • 17. Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy.
    Yang HK, Seong MW, Hwang JM.
    Sci Rep; 2024 Mar 08; 14(1):5702. PubMed ID: 38459091
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  • 18. mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation.
    Ji Y, Jia X, Zhang Q, Yao YG.
    Biochem Biophys Res Commun; 2007 Dec 14; 364(2):238-42. PubMed ID: 17942074
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  • 20. 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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