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Journal Abstract Search

185 related items for PubMed ID: 9270604

  • 1. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
    Campos Y, Martín MA, Rubio JC, Solana LG, García-Benayas C, Terradas JL, Arenas J.
    Neurology; 1997 Aug; 49(2):595-7. PubMed ID: 9270604
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  • 3. A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
    Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S.
    Neurology; 1994 May; 44(5):972-4. PubMed ID: 8190310
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  • 4. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
    Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L.
    J Inherit Metab Dis; 1998 Feb; 21(1):2-8. PubMed ID: 9501263
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  • 5. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
    Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ.
    Mol Genet Metab; 2009 Feb; 96(2):59-65. PubMed ID: 19062322
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  • 6. A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
    Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I, Okada S.
    Neuromuscul Disord; 2002 Jan; 12(1):53-5. PubMed ID: 11731285
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  • 7. Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.
    Weerasinghe CAL, Bui BT, Vu TT, Nguyen HT, Phung BK, Nguyen VM, Pham VA, Cao VH, Phan TN.
    Mol Med Rep; 2018 May; 17(5):6919-6925. PubMed ID: 29512743
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  • 8. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
    Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
    Ann Neurol; 1993 Dec; 34(6):827-34. PubMed ID: 8250532
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  • 9. Maternally inherited Leigh syndrome.
    Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S.
    J Pediatr; 1993 Mar; 122(3):419-22. PubMed ID: 8095070
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  • 10. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
    Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.
    J Neurol Neurosurg Psychiatry; 1997 Jul; 63(1):16-22. PubMed ID: 9221962
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  • 11. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
    Tatuch Y, Pagon RA, Vlcek B, Roberts R, Korson M, Robinson BH.
    Eur J Hum Genet; 1994 Jul; 2(1):35-43. PubMed ID: 8044652
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  • 13. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
    Shoffner JM, Fernhoff PM, Krawiecki NS, Caplan DB, Holt PJ, Koontz DA, Takei Y, Newman NJ, Ortiz RG, Polak M.
    Neurology; 1992 Nov; 42(11):2168-74. PubMed ID: 1436530
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  • 14. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.
    van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ.
    Nucleic Acids Res; 2000 Oct 15; 28(20):E89. PubMed ID: 11024191
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  • 17. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
    Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S.
    J Child Neurol; 2000 Nov 15; 15(11):759-61. PubMed ID: 11108511
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  • 18. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
    Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.
    Biochem Biophys Res Commun; 2011 Aug 26; 412(2):245-8. PubMed ID: 21819970
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  • 19. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.
    Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.
    Mol Genet Metab; 2012 Nov 26; 107(3):389-93. PubMed ID: 22819295
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  • 20. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
    Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR.
    Neurology; 1997 Aug 26; 49(2):589-92. PubMed ID: 9270602
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