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Journal Abstract Search

200 related items for PubMed ID: 11160915

  • 21. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
    Holme E, Larsson NG, Oldfors A, Tulinius M, Sahlin P, Stenman G.
    Am J Hum Genet; 1993 Mar; 52(3):551-6. PubMed ID: 8447321
    [Abstract] [Full Text] [Related]

  • 22. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.
    Ozawa M, Nishino I, Horai S, Nonaka I, Goto YI.
    Muscle Nerve; 1997 Mar; 20(3):271-8. PubMed ID: 9052804
    [Abstract] [Full Text] [Related]

  • 23. Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.
    Piccolo G, Focher F, Verri A, Spadari S, Banfi P, Gerosa E, Mazzarello P.
    Acta Neurol Scand; 1993 Dec; 88(6):406-9. PubMed ID: 8116340
    [Abstract] [Full Text] [Related]

  • 24. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
    Masucci JP, Davidson M, Koga Y, Schon EA, King MP.
    Mol Cell Biol; 1995 May; 15(5):2872-81. PubMed ID: 7739567
    [Abstract] [Full Text] [Related]

  • 25. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
    Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, Zeviani M, Berardinelli A, Lanzi G.
    J Child Neurol; 2006 Jan; 21(1):79-82. PubMed ID: 16551460
    [Abstract] [Full Text] [Related]

  • 26. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.
    Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA.
    J Neurol Sci; 1992 Sep; 111(2):222-6. PubMed ID: 1431990
    [Abstract] [Full Text] [Related]

  • 27. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
    Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.
    Neurology; 2004 Jun 08; 62(11):2119-21. PubMed ID: 15184630
    [Abstract] [Full Text] [Related]

  • 28. 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 08; 11(3):528-32. PubMed ID: 21303704
    [Abstract] [Full Text] [Related]

  • 29. 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 08; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 30. Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.
    White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NC.
    Genet Test; 2005 Oct 08; 9(3):190-9. PubMed ID: 16225398
    [Abstract] [Full Text] [Related]

  • 31. Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.
    Moslemi AR, Tulinius M, Holme E, Oldfors A.
    Neuromuscul Disord; 1998 Jun 08; 8(5):345-9. PubMed ID: 9673990
    [Abstract] [Full Text] [Related]

  • 32. Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.
    Villanueva-Paz M, Povea-Cabello S, Villalón-García I, Suárez-Rivero JM, Álvarez-Córdoba M, de la Mata M, Talaverón-Rey M, Jackson S, Sánchez-Alcázar JA.
    Biochim Biophys Acta Mol Cell Res; 2019 May 08; 1866(5):861-881. PubMed ID: 30797798
    [Abstract] [Full Text] [Related]

  • 33. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.
    Tanno Y, Yoneda M, Tanaka K, Kondo R, Hozumi I, Wakabayashi K, Yamada M, Fukuhara N, Ikuta F, Tsuji S.
    Neurology; 1993 Jun 08; 43(6):1198-200. PubMed ID: 8170566
    [Abstract] [Full Text] [Related]

  • 34. 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 08; 110(8):859-63. PubMed ID: 18657354
    [Abstract] [Full Text] [Related]

  • 35. Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
    Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J.
    Hum Mol Genet; 2013 May 01; 22(9):1867-72. PubMed ID: 23390135
    [Abstract] [Full Text] [Related]

  • 36. Fibrous dysplasia in a child with mitochondrial A8344G mutation.
    Chen ST, Fan PC, Hwu WL, Wu MH.
    J Child Neurol; 2008 Dec 01; 23(12):1447-50. PubMed ID: 18772492
    [Abstract] [Full Text] [Related]

  • 37. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
    Chinnery PF, Howell N, Lightowlers RN, Turnbull DM.
    Brain; 1997 Oct 01; 120 ( Pt 10)():1713-21. PubMed ID: 9365365
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 17(1):103-12. PubMed ID: 11850598
    [Abstract] [Full Text] [Related]

  • 39. Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome.
    Chou SJ, Tseng WL, Chen CT, Lai YF, Chien CS, Chang YL, Lee HC, Wei YH, Chiou SH.
    Sci Rep; 2016 Mar 30; 6():23661. PubMed ID: 27025901
    [Abstract] [Full Text] [Related]

  • 40. Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.
    Huang CC, Chu NS, Shih KD, Pang CY, Wei YH.
    J Formos Med Assoc; 1995 Apr 30; 94(4):159-63. PubMed ID: 7606176
    [Abstract] [Full Text] [Related]

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