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Journal Abstract Search

259 related items for PubMed ID: 24375076

  • 1. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
    Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.
    J Neurol; 2014 Mar; 261(3):504-10. PubMed ID: 24375076
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  • 2. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
    Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R.
    J Neurol Neurosurg Psychiatry; 2013 Aug; 84(8):936-8. PubMed ID: 23355809
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  • 5. The phenotypic spectrum of fifty Czech m.3243A>G carriers.
    Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T.
    Mol Genet Metab; 2016 Aug; 118(4):288-95. PubMed ID: 27296531
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  • 11. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
    Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.
    Aust N Z J Med; 1994 Apr; 24(2):188-93. PubMed ID: 8042948
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  • 12. Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.
    Liu G, Shen X, Sun Y, Lv Q, Li Y, Du A.
    J Neurol Sci; 2020 Jan 15; 408():116562. PubMed ID: 31722256
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  • 14. Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.
    Fukuda M, Nagao Y.
    J Med Case Rep; 2019 Oct 21; 13(1):313. PubMed ID: 31630688
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  • 18. The heart in m.3243A>G carriers.
    Finsterer J, Zarrouk-Mahjoub S.
    Herz; 2020 Jun 21; 45(4):356-361. PubMed ID: 30128910
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  • 19. Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    Koga Y, Akita Y, Takane N, Sato Y, Kato H.
    Arch Dis Child; 2000 May 21; 82(5):407-11. PubMed ID: 10799437
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  • 20. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H.
    J Med Genet; 2010 Oct 21; 47(10):659-64. PubMed ID: 20610441
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