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Journal Abstract Search

330 related items for PubMed ID: 17894548

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  • 6. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ.
    Arch Neurol; 2007 Jun; 64(6):890-3. PubMed ID: 17562939
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  • 8. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.
    Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC.
    Am J Med Genet; 2001 Dec 15; 104(4):331-8. PubMed ID: 11754070
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  • 11. 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 15; 11(2):115-8. PubMed ID: 17254817
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  • 12. Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme.
    Cardol P, Matagne RF, Remacle C.
    J Mol Biol; 2002 Jun 21; 319(5):1211-21. PubMed ID: 12079358
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  • 14. 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 Jun 21; 47(11):594-604. PubMed ID: 12436196
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  • 17. [Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy].
    Ma YX, Zhou YG, Zhang JP, Zhang QB, Liu WL, Ren CF, Li XY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Oct 21; 29(5):519-23. PubMed ID: 23042385
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  • 19. Partial mitochondrial complex I inhibition induces oxidative damage and perturbs glutamate transport in primary retinal cultures. Relevance to Leber Hereditary Optic Neuropathy (LHON).
    Beretta S, Wood JP, Derham B, Sala G, Tremolizzo L, Ferrarese C, Osborne NN.
    Neurobiol Dis; 2006 Nov 21; 24(2):308-17. PubMed ID: 16959493
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