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Journal Abstract Search

250 related items for PubMed ID: 26995359

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  • 3. [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
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  • 4. The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
    Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE.
    Brain; 1993 Jun 18; 116 ( Pt 3)():617-32. PubMed ID: 8513395
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  • 6. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.
    Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.
    Neuromuscul Disord; 2014 Jun 18; 24(6):533-6. PubMed ID: 24792523
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  • 8. Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.
    Wu YT, Tay HY, Yang JT, Liao HH, Ma YS, Wei YH.
    J Biomed Sci; 2023 Aug 21; 30(1):70. PubMed ID: 37605213
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  • 10. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H.
    J Med Genet; 2010 Oct 21; 47(10):659-64. PubMed ID: 20610441
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  • 11. [Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].
    Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J.
    Rev Neurol; 2018 Apr 16; 66(8):268-270. PubMed ID: 29645070
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  • 14. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.
    Austin SA, Vriesendorp FJ, Thandroyen FT, Hecht JT, Jones OT, Johns DR.
    Neurology; 1998 Nov 16; 51(5):1447-50. PubMed ID: 9818878
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  • 15. Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.
    Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY.
    Brain Dev; 2013 Jun 16; 35(6):582-5. PubMed ID: 22981260
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  • 19. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
    Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M.
    Muscle Nerve; 2011 Sep 16; 44(3):448-51. PubMed ID: 21996807
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  • 20. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].
    Tanno Y, Yoneda M, Tanaka K, Tsuji S.
    Nihon Rinsho; 1993 Sep 16; 51(9):2379-85. PubMed ID: 8411716
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