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Journal Abstract Search

544 related items for PubMed ID: 8676159

  • 1. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
    Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G.
    J Neurol Neurosurg Psychiatry; 1996 Jul; 61(1):47-51. PubMed ID: 8676159
    [Abstract] [Full Text] [Related]

  • 2. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.
    Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.
    Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168
    [Abstract] [Full Text] [Related]

  • 3. 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; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 4. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
    Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.
    Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089
    [Abstract] [Full Text] [Related]

  • 5. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.
    Shoffner JM, Bialer MG, Pavlakis SG, Lott M, Kaufman A, Dixon J, Teichberg S, Wallace DC.
    Neurology; 1995 Feb; 45(2):286-92. PubMed ID: 7854527
    [Abstract] [Full Text] [Related]

  • 6. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
    Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.
    Eur J Hum Genet; 1993 Feb; 1(1):80-7. PubMed ID: 8069654
    [Abstract] [Full Text] [Related]

  • 7. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
    Liu K, Zhao H, Ji K, Yan C.
    Metab Brain Dis; 2014 Mar; 29(1):139-44. PubMed ID: 24338029
    [Abstract] [Full Text] [Related]

  • 8. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
    Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.
    Arch Neurol; 2004 Feb; 61(2):269-72. PubMed ID: 14967777
    [Abstract] [Full Text] [Related]

  • 9. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
    Mongini T, Doriguzzi C, Chiadò-Piat L, Silvestri G, Servidei S, Palmucci L.
    Clin Neuropathol; 2002 Feb; 21(2):72-6. PubMed ID: 12005255
    [Abstract] [Full Text] [Related]

  • 10. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.
    Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.
    Biosens Bioelectron; 2009 Apr 15; 24(8):2371-6. PubMed ID: 19155171
    [Abstract] [Full Text] [Related]

  • 11. The 3243 MELAS mutation in a pedigree with MERRF.
    Folgerø T, Torbergsen T, Oian P.
    Eur Neurol; 1995 Apr 15; 35(3):168-71. PubMed ID: 7628497
    [Abstract] [Full Text] [Related]

  • 12. Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).
    Helm M, Florentz C, Chomyn A, Attardi G.
    Nucleic Acids Res; 1999 Feb 01; 27(3):756-63. PubMed ID: 9889270
    [Abstract] [Full Text] [Related]

  • 13. Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.
    Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R.
    Eur J Pediatr; 2012 May 01; 171(5):859-62. PubMed ID: 22270878
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

  • 15. Inheritance and expression of mitochondrial DNA point mutations.
    Holme E, Tulinius MH, Larsson NG, Oldfors A.
    Biochim Biophys Acta; 1995 May 24; 1271(1):249-52. PubMed ID: 7599216
    [Abstract] [Full Text] [Related]

  • 16. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.
    Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J.
    Pediatr Neurol; 1995 Jul 24; 13(1):69-72. PubMed ID: 7575854
    [Abstract] [Full Text] [Related]

  • 17. [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; 1995 Jul 24; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

  • 18. mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.
    Topaloğlu H, Seyrantepe V, Kandemir N, Akçören Z, Ozgüç M.
    Pediatr Neurol; 1998 May 24; 18(5):429-31. PubMed ID: 9650685
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
    Li W, Zhang W, Li F, Wang C.
    Int J Clin Exp Pathol; 2015 May 24; 8(6):7022-7. PubMed ID: 26261593
    [Abstract] [Full Text] [Related]

  • 20. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.
    Verma A, Moraes CT, Shebert RT, Bradley WG.
    Neurology; 1996 May 24; 46(5):1334-6. PubMed ID: 8628477
    [Abstract] [Full Text] [Related]

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