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Journal Abstract Search

422 related items for PubMed ID: 11139730

  • 1. ["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data].
    Laforêt P, Ziegler F, Sternberg D, Rouche A, Frachon P, Fardeau M, Eymard B, Lombès A.
    Rev Neurol (Paris); 2000 Dec; 156(12):1136-47. PubMed ID: 11139730
    [Abstract] [Full Text] [Related]

  • 2. 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; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

  • 3. Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.
    Wang Z, Liu S, Yang Y, Yuan Y, Wu L, Qi Y, Chen Q.
    Chin Med J (Engl); 2002 Jul; 115(7):995-7. PubMed ID: 12150728
    [Abstract] [Full Text] [Related]

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

  • 5. Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Tokunaga M, Mita S, Sakuta R, Nonaka I, Araki S.
    Ann Neurol; 1993 Mar; 33(3):275-80. PubMed ID: 7684581
    [Abstract] [Full Text] [Related]

  • 6. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep; 51(9):2373-8. PubMed ID: 8411715
    [Abstract] [Full Text] [Related]

  • 7. Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.
    Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y.
    Mitochondrion; 2009 Apr; 9(2):115-22. PubMed ID: 19460299
    [Abstract] [Full Text] [Related]

  • 8. Clinical features of A3243G mitochondrial tRNA mutation.
    Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ.
    Brain Dev; 2004 Oct; 26(7):459-62. PubMed ID: 15351082
    [Abstract] [Full Text] [Related]

  • 9. [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].
    Zhang Y, Wang ZX, Niu SL, Xu YF, Pei P, Yuan Y, Yang YL, Qi Y.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2005 Feb; 27(1):77-80. PubMed ID: 15782498
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
    Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S.
    Biochem Biophys Res Commun; 1997 Sep 18; 238(2):326-8. PubMed ID: 9299505
    [Abstract] [Full Text] [Related]

  • 11. [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; 1997 Sep 18; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

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  • 13. Skeletal muscle gene expression profiling in mitochondrial disorders.
    Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U, Bresolin N, Comi GP.
    FASEB J; 2005 May 18; 19(7):866-8. PubMed ID: 15728662
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  • 15. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
    Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM.
    Ann Neurol; 1996 Sep 18; 40(3):459-62. PubMed ID: 8797538
    [Abstract] [Full Text] [Related]

  • 16. Mitochondrial DNA and RNA processing in MELAS.
    Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA.
    Ann Neurol; 1996 Aug 18; 40(2):172-80. PubMed ID: 8773598
    [Abstract] [Full Text] [Related]

  • 17. [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
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  • 19. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
    Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA.
    Ann Neurol; 2000 Feb 16; 47(2):179-85. PubMed ID: 10665488
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