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Journal Abstract Search

405 related items for PubMed ID: 7804130

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  • 3. Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy.
    Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T.
    Biochem Biophys Res Commun; 1996 May 15; 222(2):201-7. PubMed ID: 8670183
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  • 4. 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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  • 5. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep 13; 51(9):2373-8. PubMed ID: 8411715
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  • 6. Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.
    Hao R, Yao YN, Zheng YG, Xu MG, Wang ED.
    FEBS Lett; 2004 Dec 03; 578(1-2):135-9. PubMed ID: 15581630
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  • 7. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
    Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON.
    Biochem Biophys Res Commun; 1997 Apr 28; 233(3):637-9. PubMed ID: 9168904
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  • 9. Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region.
    Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H, Asano T, Yazaki Y, Oka Y.
    Diabet Med; 1997 Dec 28; 14(12):1032-7. PubMed ID: 9455930
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  • 10. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
    Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T.
    Proc Natl Acad Sci U S A; 2005 May 17; 102(20):7127-32. PubMed ID: 15870203
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  • 11. 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 17; 43(6):746-51. PubMed ID: 7910800
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  • 12. 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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  • 13. Quantitation of heteroplasmy of mitochondrial tRNA(Leu(UUR)) gene using PCR-SSCP.
    Tanno Y, Yoneda M, Tanaka K, Tanaka H, Yamazaki M, Nishizawa M, Wakabayashi K, Ohama E, Tsuji S.
    Muscle Nerve; 1995 Dec 15; 18(12):1390-7. PubMed ID: 7477061
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  • 14. Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.
    Becker R, Laube H, Linn T, Damian MS.
    Exp Clin Endocrinol Diabetes; 2002 Sep 15; 110(6):291-7. PubMed ID: 12373633
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  • 15. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
    Delgado-Sánchez R, Zárate-Moysen A, Monsalvo-Reyes A, Herrero MD, Ruiz-Pesini E, López-Pérez M, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2002 Sep 15; 44(1):18-22. PubMed ID: 17199225
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  • 16. 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 15; 47(10):659-64. PubMed ID: 20610441
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  • 17. Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.
    van Eijsden RG, Eijssen LM, Lindsey PJ, van den Burg CM, de Wit LE, Rubio-Gozalbo ME, de Die CE, Ayoubi T, Sluiter W, de Coo IF, Smeets HJ.
    J Med Genet; 2008 Aug 15; 45(8):525-34. PubMed ID: 18456717
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  • 18. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan 15; 63(1):71-6. PubMed ID: 10645055
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  • 19. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
    Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V.
    Cephalalgia; 2010 Aug 15; 30(8):919-27. PubMed ID: 20656703
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  • 20. 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 15; 36(2):180-2. PubMed ID: 23582502
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