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211 related items for PubMed ID: 10356136

  • 1. Infantile encephalopathy associated with the MELAS A3243G mutation.
    Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, Tsao CY, Luquette M, Paolicchi J, Shanske S, DiMauro S, De Vivo DC.
    J Pediatr; 1999 Jun; 134(6):696-700. PubMed ID: 10356136
    [Abstract] [Full Text] [Related]

  • 2. An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.
    Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.
    Pediatr Neurol; 2006 Mar; 34(3):235-8. PubMed ID: 16504796
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. [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; 51(2):130-5. PubMed ID: 23527980
    [Abstract] [Full Text] [Related]

  • 5. Clinical features of MELAS and its relation with A3243G gene point mutation.
    Zhang J, Guo J, Fang W, Jun Q, Shi K.
    Int J Clin Exp Pathol; 2015 Feb; 8(10):13411-5. PubMed ID: 26722549
    [Abstract] [Full Text] [Related]

  • 6. [Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].
    Hou Y, Zhao XT, Xie ZY, Yuan Y, Wang ZX.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct 18; 52(5):851-855. PubMed ID: 33047718
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 61(1):47-51. PubMed ID: 8676159
    [Abstract] [Full Text] [Related]

  • 8. 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 18; 47(2):179-85. PubMed ID: 10665488
    [Abstract] [Full Text] [Related]

  • 9. [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; 2000 Feb 18; 31(9):804-11. PubMed ID: 11127079
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.
    Aharoni S, Traves TA, Melamed E, Cohen S, Silver EL.
    J Neurol Sci; 2010 Sep 15; 296(1-2):101-3. PubMed ID: 20655066
    [Abstract] [Full Text] [Related]

  • 12. [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; 2010 Sep 15; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

  • 13. When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
    Lorenzoni PJ, Werneck LC, Kay CS, Silvado CE, Scola RH.
    Arq Neuropsiquiatr; 2015 Nov 15; 73(11):959-67. PubMed ID: 26517220
    [Abstract] [Full Text] [Related]

  • 14. A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
    Hsieh RH, Li JY, Pang CY, Wei YH.
    J Biomed Sci; 2001 Nov 15; 8(4):328-35. PubMed ID: 11455195
    [Abstract] [Full Text] [Related]

  • 15. Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.
    Hoptasz M, Szczuciński A, Losy J.
    Neurol Neurochir Pol; 2014 Nov 15; 48(2):150-3. PubMed ID: 24821643
    [Abstract] [Full Text] [Related]

  • 16. [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]

  • 17. 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 16; 20(2):142-6. PubMed ID: 15794182
    [Abstract] [Full Text] [Related]

  • 18. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
    Liu K, Zhao H, Ji K, Yan C.
    Metab Brain Dis; 2014 Mar 16; 29(1):139-44. PubMed ID: 24338029
    [Abstract] [Full Text] [Related]

  • 19. 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 16; 115(7):995-7. PubMed ID: 12150728
    [Abstract] [Full Text] [Related]

  • 20. [Infantile encephalopathy associated with the MELAS A3243G mutation. Case report].
    Guevara-Campos J, Gonzalez-Guevara L, Parada Y, Urbáez-Cano J.
    Invest Clin; 2007 Jun 16; 48(2):243-8. PubMed ID: 17598646
    [Abstract] [Full Text] [Related]

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