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Journal Abstract Search

380 related items for PubMed ID: 12518276

  • 1.
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  • 2. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
    Howell N, Oostra RJ, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C.
    Am J Hum Genet; 2003 Jun; 72(6):1460-9. PubMed ID: 12736867
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  • 3. Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy.
    Chuenkongkaew WL, Suphavilai R, Vaeusorn L, Phasukkijwatana N, Lertrit P, Suktitipat B.
    J Neuroophthalmol; 2005 Sep; 25(3):173-5. PubMed ID: 16148621
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  • 4. Leber hereditary optic neuropathy in the population of Serbia.
    Jančić J, Dejanović I, Samardžić J, Radovanović S, Pepić A, Kosanović-Jaković N, Ćetković M, Kostić V.
    Eur J Paediatr Neurol; 2014 May; 18(3):354-9. PubMed ID: 24508359
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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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  • 7. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
    Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I.
    J Neuroophthalmol; 2002 Dec 11; 22(4):262-9. PubMed ID: 12464729
    [Abstract] [Full Text] [Related]

  • 8. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.
    Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE.
    Am J Ophthalmol; 2006 Apr 11; 141(4):676-82. PubMed ID: 16564802
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  • 10. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.
    Jia X, Li S, Xiao X, Guo X, Zhang Q.
    J Hum Genet; 2006 Apr 11; 51(10):851-856. PubMed ID: 16972023
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  • 12. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
    Puomila A, Hämäläinen P, Kivioja S, Savontaus ML, Koivumäki S, Huoponen K, Nikoskelainen E.
    Eur J Hum Genet; 2007 Oct 11; 15(10):1079-89. PubMed ID: 17406640
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  • 14. Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
    Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX.
    Biochem Biophys Res Commun; 2006 Feb 03; 340(1):69-75. PubMed ID: 16364244
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  • 15. [Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].
    Zheng ML, Zhang GL, Hua AL, Zhang YL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr 03; 21(2):166-7. PubMed ID: 15079802
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  • 17. Leber hereditary optic neuropathy: clinical and molecular genetic findings.
    Huoponen K.
    Neurogenetics; 2001 Jul 03; 3(3):119-25. PubMed ID: 11523562
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  • 18. 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
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  • 20. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.
    Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF.
    Neurology; 2013 Dec 10; 81(24):2073-81. PubMed ID: 24198293
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