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430 related items for PubMed ID: 15975738

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
    Hirano M, Nishigaki Y, Martí R.
    Neurologist; 2004 Jan 18; 10(1):8-17. PubMed ID: 14720311
    [Abstract] [Full Text] [Related]

  • 3. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.
    Giordano C, Sebastiani M, Plazzi G, Travaglini C, Sale P, Pinti M, Tancredi A, Liguori R, Montagna P, Bellan M, Valentino ML, Cossarizza A, Hirano M, d'Amati G, Carelli V.
    Gastroenterology; 2006 Mar 18; 130(3):893-901. PubMed ID: 16530527
    [Abstract] [Full Text] [Related]

  • 4. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
    Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 18; 23(8-9):1217-25. PubMed ID: 15571233
    [Abstract] [Full Text] [Related]

  • 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 18; 84(4):326-31. PubMed ID: 15781193
    [Abstract] [Full Text] [Related]

  • 6. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].
    Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, Zeman J.
    Cas Lek Cesk; 2006 Apr 18; 145(8):665-70. PubMed ID: 16995425
    [Abstract] [Full Text] [Related]

  • 7. A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Kintarak J, Liewluck T, Sangruchi T, Hirano M, Kulkantrakorn K, Muengtaweepongsa S.
    Clin Neurol Neurosurg; 2007 Sep 18; 109(7):613-6. PubMed ID: 17544574
    [Abstract] [Full Text] [Related]

  • 8. 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 18; 19(12):837-40. PubMed ID: 19853446
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
    Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R.
    Biosci Rep; 2007 Jun 18; 27(1-3):151-63. PubMed ID: 17549623
    [Abstract] [Full Text] [Related]

  • 11. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
    Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.
    Eur J Hum Genet; 2003 Jul 18; 11(7):547-9. PubMed ID: 12825077
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 58(4):649-52. PubMed ID: 16178026
    [Abstract] [Full Text] [Related]

  • 13. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.
    Laforce R, Valdmanis PN, Dupré N, Rouleau GA, Turgeon AF, Savard M.
    Clin Neurol Neurosurg; 2009 Oct 18; 111(8):691-4. PubMed ID: 19523753
    [Abstract] [Full Text] [Related]

  • 14. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
    Nishigaki Y, Martí R, Copeland WC, Hirano M.
    J Clin Invest; 2003 Jun 18; 111(12):1913-21. PubMed ID: 12813027
    [Abstract] [Full Text] [Related]

  • 15. MNGIE: from nuclear DNA to mitochondrial DNA.
    Nishino I, Spinazzola A, Hirano M.
    Neuromuscul Disord; 2001 Jan 18; 11(1):7-10. PubMed ID: 11166160
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
    Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M.
    Ann Neurol; 2000 Jun 29; 47(6):792-800. PubMed ID: 10852545
    [Abstract] [Full Text] [Related]

  • 19. Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.
    Blazquez A, Martín MA, Lara MC, Martí R, Campos Y, Cabello A, Garesse R, Bautista J, Andreu AL, Arenas J.
    Neuromuscul Disord; 2005 Nov 29; 15(11):775-8. PubMed ID: 16198108
    [Abstract] [Full Text] [Related]

  • 20. Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Suh BC, Jeong HN, Yoon BS, Park JH, Kim HJ, Park SW, Hwang JH, Choi BO, Chung KW.
    Mol Med Rep; 2013 Jul 29; 8(1):17-22. PubMed ID: 23685548
    [Abstract] [Full Text] [Related]

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