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Journal Abstract Search


152 related items for PubMed ID: 20806033

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  • 6. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.
    Campos Y, Gámez J, García A, Andreu AL, Rubio JC, Martín MA, del Hoyo P, Navarro C, Cervera C, Garesse R, Arenas J.
    Neuromuscul Disord; 2001 Jul; 11(5):477-80. PubMed ID: 11404120
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  • 7. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
    Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M.
    Ann Neurol; 1998 Jan; 43(1):98-101. PubMed ID: 9450773
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  • 8. A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.
    Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A.
    Biochem Biophys Res Commun; 2005 Feb 18; 327(3):675-8. PubMed ID: 15649400
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  • 12. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
    Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN.
    Nucleic Acids Res; 2008 May 18; 36(9):3065-74. PubMed ID: 18400783
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  • 18. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.
    Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P.
    Neuromuscul Disord; 2001 Jul 18; 11(5):481-4. PubMed ID: 11404121
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