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Journal Abstract Search

324 related items for PubMed ID: 8250532

  • 1. 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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  • 2. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
    Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I.
    Acta Neuropathol; 2006 Jun; 111(6):610-6. PubMed ID: 16525806
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  • 3. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
    de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA.
    Ann Neurol; 1993 Sep; 34(3):410-2. PubMed ID: 8395787
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  • 4. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
    Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J.
    Cas Lek Cesk; 2002 Aug 30; 141(17):551-4. PubMed ID: 12404959
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  • 10. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
    Enns GM, Bai RK, Beck AE, Wong LJ.
    Mol Genet Metab; 2006 Aug 30; 88(4):364-71. PubMed ID: 16546428
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  • 11. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
    Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J.
    Cas Lek Cesk; 1999 Jun 28; 138(13):401-5. PubMed ID: 10566210
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  • 12. [Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].
    Playán A, Solano-Palacios A, González de la Rosa JB, Merino-Arribas JM, Andreu AL, López-Pérez M, Montoya J.
    Rev Neurol; 1999 Jun 28; 34(12):1124-6. PubMed ID: 12134275
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  • 15. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
    Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 1999 Jun 28; 49(5):248-50. PubMed ID: 19714555
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  • 16. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Jun 28; 45(2):69-75. PubMed ID: 10721666
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