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Journal Abstract Search

143 related items for PubMed ID: 1436530

  • 1. 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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  • 2. 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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  • 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. Clinical and molecular studies in three Portuguese mtDNA T8993G families.
    Vilarinho L, Leão E, Barbot C, Santos M, Rocha H, Santorelli FM.
    Pediatr Neurol; 2000 Jan; 22(1):29-32. PubMed ID: 10669202
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  • 5. 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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  • 14. 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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  • 15. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
    Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA.
    Hum Mutat; 2000 Jun; 15(6):522-32. PubMed ID: 10862082
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  • 16. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.
    Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M.
    Hum Mol Genet; 1995 Nov; 4(11):2017-23. PubMed ID: 8589677
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  • 17. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.
    Fryer A, Appleton R, Sweeney MG, Rosenbloom L, Harding AE.
    Arch Dis Child; 1994 Nov; 71(5):419-22. PubMed ID: 7529982
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