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Journal Abstract Search

304 related items for PubMed ID: 7520241

  • 1. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S.
    Biochem Biophys Res Commun; 1994 Aug 15; 202(3):1624-30. PubMed ID: 7520241
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  • 2. A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, Wachi E.
    Biochem Mol Biol Int; 1994 Aug 15; 33(6):1055-61. PubMed ID: 7804130
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  • 3. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K.
    J Biol Chem; 2000 Feb 11; 275(6):4251-7. PubMed ID: 10660592
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  • 4. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep 11; 51(9):2373-8. PubMed ID: 8411715
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  • 6. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.
    Diabetes; 1994 Jun 11; 43(6):746-51. PubMed ID: 7910800
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  • 8. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.
    Koga Y, Davidson M, Schon EA, King MP.
    Nucleic Acids Res; 1993 Feb 11; 21(3):657-62. PubMed ID: 7680123
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  • 9. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
    Goto Y, Nonaka I, Horai S.
    Nature; 1990 Dec 13; 348(6302):651-3. PubMed ID: 2102678
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  • 10. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.
    Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH.
    J Neurol Neurosurg Psychiatry; 1994 May 13; 57(5):586-9. PubMed ID: 8201329
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  • 12. Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.
    Kirino Y, Yasukawa T, Ohta S, Akira S, Ishihara K, Watanabe K, Suzuki T.
    Proc Natl Acad Sci U S A; 2004 Oct 19; 101(42):15070-5. PubMed ID: 15477592
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  • 13. A new point mutation associated with mitochondrial encephalomyopathy.
    Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J.
    Hum Mol Genet; 1993 Dec 19; 2(12):2081-7. PubMed ID: 8111377
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  • 14. 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 19; 24(2):188-93. PubMed ID: 8042948
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  • 15. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.
    Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y.
    Brain Dev; 2014 Feb 19; 36(2):180-2. PubMed ID: 23582502
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  • 17. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    Suzuki S, Hinokio Y, Hirai S, Onoda M, Matsumoto M, Ohtomo M, Kawasaki H, Satoh Y, Akai H, Abe K.
    Diabetologia; 1994 Aug 19; 37(8):818-25. PubMed ID: 7988784
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  • 18. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
    Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S.
    Am J Hum Genet; 1991 Sep 19; 49(3):590-9. PubMed ID: 1715668
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  • 19. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
    Chomyn A, Enriquez JA, Micol V, Fernandez-Silva P, Attardi G.
    J Biol Chem; 2000 Jun 23; 275(25):19198-209. PubMed ID: 10858457
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  • 20. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene.
    Koga Y, Davidson M, Schon EA, King MP.
    Muscle Nerve Suppl; 1995 Jun 23; 3():S119-23. PubMed ID: 7603512
    [Abstract] [Full Text] [Related]

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