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645 related items for PubMed ID: 14967777

  • 1. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
    Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.
    Arch Neurol; 2004 Feb; 61(2):269-72. PubMed ID: 14967777
    [Abstract] [Full Text] [Related]

  • 2. 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; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 3. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
    Mongini T, Doriguzzi C, Chiadò-Piat L, Silvestri G, Servidei S, Palmucci L.
    Clin Neuropathol; 2002 Oct; 21(2):72-6. PubMed ID: 12005255
    [Abstract] [Full Text] [Related]

  • 4. 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; 110(8):859-63. PubMed ID: 18657354
    [Abstract] [Full Text] [Related]

  • 5. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
    Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S.
    Arch Neurol; 2005 Mar; 62(3):473-6. PubMed ID: 15767514
    [Abstract] [Full Text] [Related]

  • 6. New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).
    Calvaruso MA, Willemsen MA, Rodenburg RJ, van den Brand M, Smeitink JA, Nijtmans L.
    Mitochondrion; 2011 Sep; 11(5):778-82. PubMed ID: 21704194
    [Abstract] [Full Text] [Related]

  • 7. 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; 33(6):640-5. PubMed ID: 8388680
    [Abstract] [Full Text] [Related]

  • 8. Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Tokunaga M, Mita S, Sakuta R, Nonaka I, Araki S.
    Ann Neurol; 1993 Mar; 33(3):275-80. PubMed ID: 7684581
    [Abstract] [Full Text] [Related]

  • 9. An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.
    Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.
    Pediatr Neurol; 2006 Mar; 34(3):235-8. PubMed ID: 16504796
    [Abstract] [Full Text] [Related]

  • 10. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.
    Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH.
    Acta Neurol Scand; 2006 May; 113(5):334-41. PubMed ID: 16629770
    [Abstract] [Full Text] [Related]

  • 11. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
    Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G.
    J Neurol Neurosurg Psychiatry; 1996 Jul; 61(1):47-51. PubMed ID: 8676159
    [Abstract] [Full Text] [Related]

  • 12. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.
    Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.
    Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168
    [Abstract] [Full Text] [Related]

  • 13. Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
    Kim DS, Jung DS, Park KH, Kim IJ, Kim CM, Lee WH, Rho SK.
    J Korean Med Sci; 2002 Feb; 17(1):103-12. PubMed ID: 11850598
    [Abstract] [Full Text] [Related]

  • 14. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.
    Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.
    Biosens Bioelectron; 2009 Apr 15; 24(8):2371-6. PubMed ID: 19155171
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan 15; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

  • 16. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report.
    Prayson RA, Wang N.
    Arch Pathol Lab Med; 1998 Nov 15; 122(11):978-81. PubMed ID: 9822126
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 42(4):148-51. PubMed ID: 21766266
    [Abstract] [Full Text] [Related]

  • 18. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
    Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA.
    Biochem Biophys Res Commun; 2010 Nov 12; 402(2):443-7. PubMed ID: 20965148
    [Abstract] [Full Text] [Related]

  • 19. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
    Liu K, Zhao H, Ji K, Yan C.
    Metab Brain Dis; 2014 Mar 12; 29(1):139-44. PubMed ID: 24338029
    [Abstract] [Full Text] [Related]

  • 20. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
    Neuromuscul Disord; 2008 Jul 12; 18(7):553-6. PubMed ID: 18590963
    [Abstract] [Full Text] [Related]

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