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Journal Abstract Search

285 related items for PubMed ID: 30128910

  • 1. The heart in m.3243A>G carriers.
    Finsterer J, Zarrouk-Mahjoub S.
    Herz; 2020 Jun; 45(4):356-361. PubMed ID: 30128910
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  • 2. 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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  • 3. 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 12; 13(5):671-677. PubMed ID: 30133155
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  • 4. Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.
    Florian A, Ludwig A, Stubbe-Dräger B, Boentert M, Young P, Waltenberger J, Rösch S, Sechtem U, Yilmaz A.
    J Cardiovasc Magn Reson; 2015 May 22; 17(1):40. PubMed ID: 26001801
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  • 8. Cardiac involvement in adults with m.3243A>G MELAS gene mutation.
    Vydt TC, de Coo RF, Soliman OI, Ten Cate FJ, van Geuns RJ, Vletter WB, Schoonderwoerd K, van den Bosch BJ, Smeets HJ, Geleijnse ML.
    Am J Cardiol; 2007 Jan 15; 99(2):264-9. PubMed ID: 17223431
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  • 12. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
    Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R.
    J Neurol Neurosurg Psychiatry; 2013 Aug 15; 84(8):936-8. PubMed ID: 23355809
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  • 13. 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 15; 1864(9 Pt B):3022-3037. PubMed ID: 29928977
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  • 14. Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.
    Hendrix CLF, van den Heuvel FMA, Rodwell L, Timmermans J, Nijveldt R, Janssen MCH, Saris CGJ.
    Mol Genet Metab; 2022 Jul 15; 136(3):219-225. PubMed ID: 35659503
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  • 17. Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.
    Fukuda M, Nagao Y.
    J Med Case Rep; 2019 Oct 21; 13(1):313. PubMed ID: 31630688
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  • 18. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects.
    Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H.
    Circulation; 1995 Feb 15; 91(4):955-61. PubMed ID: 7850981
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  • 19. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
    de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA.
    J Inherit Metab Dis; 2012 Nov 15; 35(6):1059-69. PubMed ID: 22403016
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  • 20. Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
    Mullin NK, Anfinson KR, Riker MJ, Wieland KL, Tatro NJ, Scheetz TE, Mullins RF, Stone EM, Tucker BA.
    Hum Mol Genet; 2022 Mar 03; 31(5):775-782. PubMed ID: 34590675
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