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Journal Abstract Search

172 related items for PubMed ID: 22747555

  • 1. Atypical clinical presentations of the A3243G mutation, usually associated with MELAS.
    Blum S, Robertson T, Klingberg S, Henderson RD, McCombe P.
    Intern Med J; 2011 Feb; 41(2):199-202. PubMed ID: 22747555
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  • 4. [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; 48(2):243-8. PubMed ID: 17598646
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  • 5. Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).
    Pronicki M, Sykut-Cegielska J, Mierzewska H, Tońska K, Karczmarewicz E, Iwanicka K, Bartnik E, Pronicka E.
    Med Sci Monit; 2002 Nov; 8(11):CR767-73. PubMed ID: 12444382
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  • 7. 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; 48(2):150-3. PubMed ID: 24821643
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  • 8. A study of familial MELAS: evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression.
    Chen C, Xiong N, Wang Y, Xiong J, Huang J, Zhang Z, Wang T.
    Neurol India; 2012 Nov; 60(1):86-9. PubMed ID: 22406788
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  • 9. 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
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  • 12. 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 Jan; 21(2):72-6. PubMed ID: 12005255
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  • 13. [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; 2002 Jan; 44(1):18-22. PubMed ID: 17199225
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  • 16. 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; 101(1):65-9. PubMed ID: 10660156
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  • 17. 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; 73(11):959-67. PubMed ID: 26517220
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  • 19. [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
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  • 20. Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report.
    Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK.
    J Med Case Rep; 2019 Mar 06; 13(1):63. PubMed ID: 30837005
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