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227 related items for PubMed ID: 16551459

  • 1. A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.
    Saneto RP, Bouldin A.
    J Child Neurol; 2006 Jan; 21(1):77-9. PubMed ID: 16551459
    [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. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.
    Pulkes T, Sweeney MG, Hanna MG.
    Lancet; 2000 Dec 16; 356(9247):2068-9. PubMed ID: 11145497
    [Abstract] [Full Text] [Related]

  • 4. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
    Morgan-Hughes JA, Sweeney MG, Cooper JM, Hammans SR, Brockington M, Schapira AH, Harding AE, Clark JB.
    Biochim Biophys Acta; 1995 May 24; 1271(1):135-40. PubMed ID: 7599199
    [Abstract] [Full Text] [Related]

  • 5. 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 24; 21(2):72-6. PubMed ID: 12005255
    [Abstract] [Full Text] [Related]

  • 6. Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes).
    Bakker A, Barthélémy C, Frachon P, Chateau D, Sternberg D, Mazat JP, Lombès A.
    Pediatr Res; 2000 Aug 24; 48(2):143-50. PubMed ID: 10926287
    [Abstract] [Full Text] [Related]

  • 7. 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 24; 36(2):180-2. PubMed ID: 23582502
    [Abstract] [Full Text] [Related]

  • 8. Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
    De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, Noher de Halac I, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E.
    Am J Med Genet; 2001 Mar 01; 99(2):83-93. PubMed ID: 11241464
    [Abstract] [Full Text] [Related]

  • 9. Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
    Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S.
    J Child Neurol; 2005 Feb 01; 20(2):142-6. PubMed ID: 15794182
    [Abstract] [Full Text] [Related]

  • 10. Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS.
    Abu-Amero KK, Ozand PT, Al-Dhalaan H.
    J Child Neurol; 2006 Nov 01; 21(11):971-2. PubMed ID: 17092464
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 115(7):995-7. PubMed ID: 12150728
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).
    Tzen CY, Thajeb P, Wu TY, Chen SC.
    Muscle Nerve; 2003 Nov 28; 28(5):575-81. PubMed ID: 14571459
    [Abstract] [Full Text] [Related]

  • 14. 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 28; 13(1):69-72. PubMed ID: 7575854
    [Abstract] [Full Text] [Related]

  • 15. Pathology of mitochondria in MELAS syndrome: an ultrastructural study.
    Felczak P, Lewandowska E, Stępniak I, Ołdak M, Pollak A, Lechowicz U, Pasennik E, Stępień T, Wierzba-Bobrowicz T.
    Pol J Pathol; 2017 Jul 28; 68(2):173-181. PubMed ID: 29025253
    [Abstract] [Full Text] [Related]

  • 16. The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
    Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S.
    J Med Genet; 1997 Jul 28; 34(7):607-9. PubMed ID: 9222976
    [Abstract] [Full Text] [Related]

  • 17. [Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children].
    Liu XL, Bao XH, Ma YN, Chang XZ, Qin J, Wu XR.
    Zhonghua Er Ke Za Zhi; 2013 Feb 28; 51(2):130-5. PubMed ID: 23527980
    [Abstract] [Full Text] [Related]

  • 18. 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 Feb 28; 8(6):7022-7. PubMed ID: 26261593
    [Abstract] [Full Text] [Related]

  • 19. [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; 2015 Feb 28; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

  • 20. [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
    Coelho-Miranda L, Playan A, Artuch R, Vilaseca MA, Colomer J, Briones P, Coll-Cantí J, Conill J, Sans A, López de Munain A, Solano A, Alcaine MJ, Montoya J, Pineda M.
    Rev Neurol; 2015 Feb 28; 31(9):804-11. PubMed ID: 11127079
    [Abstract] [Full Text] [Related]

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