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Journal Abstract Search

464 related items for PubMed ID: 9924029

  • 1. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
    Nishino I, Spinazzola A, Hirano M.
    Science; 1999 Jan 29; 283(5402):689-92. PubMed ID: 9924029
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  • 2. MNGIE: from nuclear DNA to mitochondrial DNA.
    Nishino I, Spinazzola A, Hirano M.
    Neuromuscul Disord; 2001 Jan 29; 11(1):7-10. PubMed ID: 11166160
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  • 5. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
    Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A.
    Mol Genet Metab; 2005 Apr 29; 84(4):326-31. PubMed ID: 15781193
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  • 6. Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
    Hirano M, Lagier-Tourenne C, Valentino ML, Martí R, Nishigaki Y.
    Gene; 2005 Jul 18; 354():152-6. PubMed ID: 15975738
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  • 7. Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
    Kocaefe YC, Erdem S, Ozgüç M, Tan E.
    Eur J Hum Genet; 2003 Jan 18; 11(1):102-4. PubMed ID: 12529715
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  • 10. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
    Nishigaki Y, Marti R, Hirano M.
    Hum Mol Genet; 2004 Jan 01; 13(1):91-101. PubMed ID: 14613972
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  • 15. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
    Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F.
    J Med Genet; 2004 Feb 01; 41(2):125-9. PubMed ID: 14757860
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  • 16. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
    Martí R, Verschuuren JJ, Buchman A, Hirano I, Tadesse S, van Kuilenburg AB, van Gennip AH, Poorthuis BJ, Hirano M.
    Ann Neurol; 2005 Oct 01; 58(4):649-52. PubMed ID: 16178026
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  • 17. Altered thymidine metabolism due to defects of thymidine phosphorylase.
    Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M.
    J Biol Chem; 2002 Feb 08; 277(6):4128-33. PubMed ID: 11733540
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  • 20. Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.
    Massa R, Tessa A, Margollicci M, Micheli V, Romigi A, Tozzi G, Terracciano C, Piemonte F, Bernardi G, Santorelli FM.
    Neuromuscul Disord; 2009 Dec 08; 19(12):837-40. PubMed ID: 19853446
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