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Journal Abstract Search

169 related items for PubMed ID: 7981717

  • 21. [Identification of an ideal noninvasive method to detect A3243G gene mutation in MELAS syndrome].
    Ma YN, Fang F, Yang YL, Zhang Y, Wang ST, Xu YF, Pei P, Yuan Y, Bu DF, Qi Y.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3250-3. PubMed ID: 19159547
    [Abstract] [Full Text] [Related]

  • 22. Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
    Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K.
    Brain; 2005 Aug 16; 128(Pt 8):1861-9. PubMed ID: 15857931
    [Abstract] [Full Text] [Related]

  • 23. Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS.
    Love S, Nicoll JA, Kinrade E.
    J Pathol; 1993 May 16; 170(1):9-14. PubMed ID: 8326463
    [Abstract] [Full Text] [Related]

  • 24. Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome.
    Liou CW, Huang CC, Tsai JL, Liu JY, Pang CY, Lee HC, Wang EK, Wei YH.
    Acta Neurol Scand; 2000 Jan 16; 101(1):65-9. PubMed ID: 10660156
    [Abstract] [Full Text] [Related]

  • 25. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
    Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S.
    J Clin Invest; 1993 Dec 16; 92(6):2906-15. PubMed ID: 8254046
    [Abstract] [Full Text] [Related]

  • 26. [Diagnosis and therapy of mitochondriopathies].
    Sperl W.
    Wien Klin Wochenschr; 1997 Feb 14; 109(3):93-9. PubMed ID: 9139466
    [Abstract] [Full Text] [Related]

  • 27. Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.
    Marotta R, Reardon K, McKelvie PA, Chiotis M, Chin J, Cook M, Collins SJ.
    J Clin Neurosci; 2009 Sep 14; 16(9):1223-5. PubMed ID: 19502062
    [Abstract] [Full Text] [Related]

  • 28. Update in molecular genetics: mitochondrial energy transduction disorders.
    Marzuki S, Sudoyo H, Lertrit P.
    Southeast Asian J Trop Med Public Health; 1995 Sep 14; 26 Suppl 1():155-61. PubMed ID: 8629096
    [No Abstract] [Full Text] [Related]

  • 29. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
    Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S.
    N Engl J Med; 1999 Sep 30; 341(14):1037-44. PubMed ID: 10502593
    [Abstract] [Full Text] [Related]

  • 30. [Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy].
    Zhang XA, Wu HC, Zhang BF, Yu W, Fan QS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 30; 22(1):18-21. PubMed ID: 15696472
    [Abstract] [Full Text] [Related]

  • 31. Mitochondrial defects in neurodegenerative disease.
    Wallace DC.
    Ment Retard Dev Disabil Res Rev; 2001 Feb 30; 7(3):158-66. PubMed ID: 11553931
    [Abstract] [Full Text] [Related]

  • 32. Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis.
    van Orsouw NJ, Zhang X, Wei JY, Johns DR, Vijg J.
    Genomics; 1998 Aug 15; 52(1):27-36. PubMed ID: 9740668
    [Abstract] [Full Text] [Related]

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

  • 34. Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
    Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J.
    Hum Mol Genet; 2013 May 01; 22(9):1867-72. PubMed ID: 23390135
    [Abstract] [Full Text] [Related]

  • 35. [Diseases caused by mitochondrial DNA mutations].
    Wijburg FA, van den Bogert C, de Visser M, Oostra RJ, Bakker PA, Bolhuis PA.
    Ned Tijdschr Geneeskd; 1995 Jul 01; 139(26):1322-6. PubMed ID: 7617049
    [No Abstract] [Full Text] [Related]

  • 36. [Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].
    Zhao J, Zhao DH, Zhang W, Lü H, Yuan Y, Qi Y, Wang ZX.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2835-8. PubMed ID: 23290212
    [Abstract] [Full Text] [Related]

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  • 39. 74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands.
    Poulton J, Turnbull DM.
    Neuromuscul Disord; 2000 Aug 30; 10(6):460-2. PubMed ID: 10899455
    [No Abstract] [Full Text] [Related]

  • 40. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles.
    Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E, Morris JG.
    J Neurol Sci; 1998 Nov 26; 161(1):36-9. PubMed ID: 9879679
    [Abstract] [Full Text] [Related]

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