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Journal Abstract Search

128 related items for PubMed ID: 7993661

  • 21. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
    Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA.
    Am J Hum Genet; 1992 May; 50(5):934-49. PubMed ID: 1315123
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  • 22. Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies.
    Inui K, Tsukamoto H, Fukushima H, Taniike M, Tanaka J, Nishigaki T, Okada S.
    J Inherit Metab Dis; 1992 May; 15(3):311-4. PubMed ID: 1405464
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  • 23. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.
    Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, Angelini C, Attardi G.
    Proc Natl Acad Sci U S A; 1992 May 15; 89(10):4221-5. PubMed ID: 1584755
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  • 26. Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.
    Houshmand M, Larsson NG, Oldfors A, Tulinius M, Holme E.
    Hum Genet; 1996 Mar 15; 97(3):269-73. PubMed ID: 8786060
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  • 29. Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Takahashi N, Shimada T, Ishibashi Y, Yoshitomi H, Oyake N, Murakami Y, Nishino I, Nonaka I, Goto Y, Kitamura J.
    Int J Cardiol; 2008 Oct 13; 129(3):e77-80. PubMed ID: 17900719
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  • 31. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
    King MP, Koga Y, Davidson M, Schon EA.
    Mol Cell Biol; 1992 Feb 13; 12(2):480-90. PubMed ID: 1732728
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  • 32. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
    Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.
    Orphanet J Rare Dis; 2013 Dec 17; 8():193. PubMed ID: 24344687
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  • 33. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
    Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.
    J Child Neurol; 2005 May 17; 20(5):449-52. PubMed ID: 15971356
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  • 35. Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
    Sequiera GL, Rockman-Greenberg C, Dhingra S.
    Stem Cell Res; 2020 Oct 17; 48():101935. PubMed ID: 32777772
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  • 38. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.
    Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S.
    Neurology; 1991 Oct 17; 41(10):1663-4. PubMed ID: 1922812
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  • 40. Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
    Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P, Mallya S, Deepha S, Ponmalar JNJ, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K.
    J Neurol; 2021 Jun 17; 268(6):2192-2207. PubMed ID: 33484326
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