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231 related items for PubMed ID: 9436449

  • 1. [The correlation of the heteroplasmy of mtDNA and clinicopathological findings in the patients with mitochondrial encephalomyopathies].
    Tanno Y, Tanaka K, Tsuji S.
    Nihon Rinsho; 1997 Dec; 55(12):3270-6. PubMed ID: 9436449
    [Abstract] [Full Text] [Related]

  • 2. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.
    Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH.
    Acta Neurol Scand; 2006 May; 113(5):334-41. PubMed ID: 16629770
    [Abstract] [Full Text] [Related]

  • 3. 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 May; 21(2):72-6. PubMed ID: 12005255
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
    Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J.
    Biochem Biophys Res Commun; 1995 Sep 05; 214(1):86-93. PubMed ID: 7669057
    [Abstract] [Full Text] [Related]

  • 6. [Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF].
    Goto Y.
    Nihon Rinsho; 1997 Dec 05; 55(12):3259-64. PubMed ID: 9436447
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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 15; 61(2):269-72. PubMed ID: 14967777
    [Abstract] [Full Text] [Related]

  • 9. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
    Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J.
    Cas Lek Cesk; 1999 Jun 28; 138(13):401-5. PubMed ID: 10566210
    [Abstract] [Full Text] [Related]

  • 10. Mitochondrial diseases.
    Nonaka I.
    Curr Opin Neurol Neurosurg; 1992 Oct 28; 5(5):622-32. PubMed ID: 1392136
    [Abstract] [Full Text] [Related]

  • 11. A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies.
    Seibel P, Flierl A, Kottlors M, Reichmann H.
    Biochem Biophys Res Commun; 1994 Apr 29; 200(2):938-42. PubMed ID: 8179630
    [Abstract] [Full Text] [Related]

  • 12. The molecular genetics of mitochondrial cytopathies: the Melbourne experience.
    Thyagarajan D, Byrne E, Dennet X, Marzuki S.
    Clin Exp Neurol; 1992 Apr 29; 29():172-81. PubMed ID: 1343860
    [Abstract] [Full Text] [Related]

  • 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 29; 18(12):1390-7. PubMed ID: 7477061
    [Abstract] [Full Text] [Related]

  • 14. Rapid and noninvasive screening of patients with mitochondrial myopathy.
    Kotsimbos N, Jean-Francois MJ, Huizing M, Kapsa RM, Lertrit P, Siregar NC, Marzuki S, Sue C, Byrne E.
    Hum Mutat; 1994 Dec 29; 4(2):132-5. PubMed ID: 7981717
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Investigation of common mitochondrial point mutations in Korea.
    Kwon SJ, Park SS, Kim JM, Ahn TB, Kim SH, Kim J, Lee SH, Ha CK, Ahn MY, Jeon BS.
    Ann N Y Acad Sci; 2004 Apr 01; 1011():339-44. PubMed ID: 15126311
    [Abstract] [Full Text] [Related]

  • 17. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
    Neuromuscul Disord; 2008 Jul 01; 18(7):553-6. PubMed ID: 18590963
    [Abstract] [Full Text] [Related]

  • 18. Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
    Kim DS, Jung DS, Park KH, Kim IJ, Kim CM, Lee WH, Rho SK.
    J Korean Med Sci; 2002 Feb 01; 17(1):103-12. PubMed ID: 11850598
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 128(Pt 8):1861-9. PubMed ID: 15857931
    [Abstract] [Full Text] [Related]

  • 20. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.
    Brain; 2006 May 01; 129(Pt 5):1249-59. PubMed ID: 16537564
    [Abstract] [Full Text] [Related]

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