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229 related items for PubMed ID: 10477264

  • 1. Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.
    Antonická H, Floryk D, Klement P, Stratilová L, Hermanská J, Houstková H, Kalous M, Drahota Z, Zeman J, Houstek J.
    Biochem J; 1999 Sep 15; 342 Pt 3(Pt 3):537-44. PubMed ID: 10477264
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  • 4. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
    Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J.
    Cas Lek Cesk; 1999 Jun 28; 138(13):401-5. PubMed ID: 10566210
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  • 6. Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
    Wiedemann FR, Bartels C, Kirches E, Mawrin C, Wallesch CW.
    Clin Neurol Neurosurg; 2008 Sep 28; 110(8):859-63. PubMed ID: 18657354
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  • 7. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
    Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, de la Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E.
    Acta Neuropathol; 2003 Jan 28; 105(1):69-75. PubMed ID: 12471464
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  • 8. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].
    Tanno Y, Yoneda M, Tanaka K, Tsuji S.
    Nihon Rinsho; 1993 Sep 28; 51(9):2379-85. PubMed ID: 8411716
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  • 9. The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation.
    Chen HF, Chen CY, Lin TH, Huang ZW, Chi TH, Ma YS, Wu SB, Wei YH, Hsieh M.
    FEBS J; 2012 Aug 28; 279(16):2987-3001. PubMed ID: 22742457
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  • 10. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations.
    James AM, Sheard PW, Wei YH, Murphy MP.
    Eur J Biochem; 1999 Jan 28; 259(1-2):462-9. PubMed ID: 9914528
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  • 11. MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients.
    Lorenzoni PJ, Scola RH, Kay CS, Arndt RC, Silvado CE, Werneck LC.
    Mitochondrion; 2011 May 28; 11(3):528-32. PubMed ID: 21303704
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  • 12. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.
    Graf WD, Sumi SM, Copass MK, Ojemann LM, Longstreth WT, Shanske S, Lombes A, DiMauro S.
    Ann Neurol; 1993 Jun 28; 33(6):640-5. PubMed ID: 8388680
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  • 13. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
    Horvath R, Kley RA, Lochmüller H, Vorgerd M.
    Neurology; 2007 Jan 02; 68(1):56-8. PubMed ID: 17200493
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  • 15. Immunohistochemical demonstration of spinal ventral horn cells involvement in a case of "myoclonus epilepsy with ragged red fibers" (MERRF).
    Sparaco M, Cavallaro T, Rossi G, Rizzuto N.
    Clin Neuropathol; 2000 Jan 02; 19(4):200-7. PubMed ID: 10919352
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  • 16. Hypersensitivity of A8344G MERRF mutated cybrid cells to staurosporine-induced cell death is mediated by calcium-dependent activation of calpains.
    Rommelaere G, Michel S, Malaisse J, Charlier S, Arnould T, Renard P.
    Int J Biochem Cell Biol; 2012 Jan 02; 44(1):139-49. PubMed ID: 22037425
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  • 17. Cyclosporin A increases resting mitochondrial membrane potential in SY5Y cells and reverses the depressed mitochondrial membrane potential of Alzheimer's disease cybrids.
    Cassarino DS, Swerdlow RH, Parks JK, Parker WD, Bennett JP.
    Biochem Biophys Res Commun; 1998 Jul 09; 248(1):168-73. PubMed ID: 9675105
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  • 18. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome.
    Wu SB, Ma YS, Wu YT, Chen YC, Wei YH.
    Mol Neurobiol; 2010 Jun 09; 41(2-3):256-66. PubMed ID: 20411357
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  • 19. Fibrous dysplasia in a child with mitochondrial A8344G mutation.
    Chen ST, Fan PC, Hwu WL, Wu MH.
    J Child Neurol; 2008 Dec 09; 23(12):1447-50. PubMed ID: 18772492
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  • 20. MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).
    Hahn A, Schänzer A, Neubauer BA, Gizewski E, Ahting U, Rolinski B.
    Neuropediatrics; 2011 Aug 09; 42(4):148-51. PubMed ID: 21766266
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