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Journal Abstract Search

397 related items for PubMed ID: 33484326

  • 21. [Mitochondrial genome analysis in the probands of six Chinese families with MELAS].
    Liu L, Yuquan S, Baorong Z, Pingping J, Ailian D, Minxin G.
    Yi Chuan; 2014 Nov; 36(11):1159-67. PubMed ID: 25567874
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  • 22. The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
    Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME.
    Biochim Biophys Acta Mol Basis Dis; 2018 Sep; 1864(9 Pt B):3022-3037. PubMed ID: 29928977
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  • 24. New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.
    Endres D, Süß P, Maier SJ, Friedel E, Nickel K, Ziegler C, Fiebich BL, Glocker FX, Stock F, Egger K, Lange T, Dacko M, Venhoff N, Erny D, Doostkam S, Komlosi K, Domschke K, Tebartz van Elst L.
    Front Immunol; 2019 Sep; 10():412. PubMed ID: 30949164
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  • 27. Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).
    Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D.
    Congenit Heart Dis; 2018 Sep; 13(5):671-677. PubMed ID: 30133155
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  • 28. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.
    J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793
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  • 29. Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
    Mezuki S, Fukuda K, Matsushita T, Fukushima Y, Matsuo R, Goto YI, Yasukawa T, Uchiumi T, Kang D, Kitazono T, Ago T.
    BMC Neurol; 2017 Dec 13; 17(1):217. PubMed ID: 29237403
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  • 30. One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
    Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Rodenburg RJ, de Laat P, Smeitink JAM, Janssen MCH, Louw R.
    Metabolomics; 2021 Jan 12; 17(1):10. PubMed ID: 33438095
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  • 31. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA.
    Terauchi A, Tamagawa K, Morimatsu Y, Kobayashi M, Sano T, Yoda S.
    Brain Dev; 1996 Jan 12; 18(3):224-9. PubMed ID: 8836506
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  • 36. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep 12; 51(9):2373-8. PubMed ID: 8411715
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  • 37. Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report.
    Oyama M, Iizuka T, Nakahara J, Izawa Y.
    BMC Neurol; 2020 May 01; 20(1):167. PubMed ID: 32357846
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  • 39. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
    Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW.
    Eur J Hum Genet; 2005 May 01; 13(5):623-7. PubMed ID: 15657614
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  • 40. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
    Ganetzky RD, Falk MJ.
    Mol Genet Metab; 2018 Mar 01; 123(3):301-308. PubMed ID: 29428506
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