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171 related items for PubMed ID: 8170566

  • 1. 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; 43(6):1198-200. PubMed ID: 8170566
    [Abstract] [Full Text] [Related]

  • 2. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].
    Tanno Y, Yoneda M, Tanaka K, Tsuji S.
    Nihon Rinsho; 1993 Sep; 51(9):2379-85. PubMed ID: 8411716
    [Abstract] [Full Text] [Related]

  • 3. 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; 94(4):159-63. PubMed ID: 7606176
    [Abstract] [Full Text] [Related]

  • 4. Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.
    Suomalainen A, Kollmann P, Octave JN, Söderlund H, Syvänen AC.
    Eur J Hum Genet; 1993 Apr; 1(1):88-95. PubMed ID: 8069655
    [Abstract] [Full Text] [Related]

  • 5. 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; 116 ( Pt 3)():617-32. PubMed ID: 8513395
    [Abstract] [Full Text] [Related]

  • 6. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.
    Larsson NG, Tulinius MH, Holme E, Oldfors A.
    Muscle Nerve Suppl; 1995 Jun; 3():S102-6. PubMed ID: 7603509
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.
    Chomyn A, Lai ST, Shakeley R, Bresolin N, Scarlato G, Attardi G.
    Am J Hum Genet; 1994 Jun; 54(6):966-74. PubMed ID: 8198140
    [Abstract] [Full Text] [Related]

  • 10. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
    Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.
    Eur J Hum Genet; 1993 Jun; 1(1):80-7. PubMed ID: 8069654
    [Abstract] [Full Text] [Related]

  • 11. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.
    Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R.
    Neurology; 1999 Jan 15; 52(2):377-82. PubMed ID: 9932960
    [Abstract] [Full Text] [Related]

  • 12. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.
    Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH.
    Muscle Nerve; 1994 Jan 15; 17(1):52-7. PubMed ID: 8264702
    [Abstract] [Full Text] [Related]

  • 13. The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
    Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE.
    Ann Neurol; 2003 Dec 15; 54(6):820-3. PubMed ID: 14681892
    [Abstract] [Full Text] [Related]

  • 14. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.
    Yasukawa T, Suzuki T, Ishii N, Ueda T, Ohta S, Watanabe K.
    FEBS Lett; 2000 Feb 11; 467(2-3):175-8. PubMed ID: 10675533
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 16. Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome.
    Remes AM, Kärppä M, Moilanen JS, Rusanen H, Hassinen IE, Majamaa K, Uimonen S, Sorri M, Salmela PI, Karvonen SL, Karvonen SL.
    J Neurol Neurosurg Psychiatry; 2003 Aug 11; 74(8):1158-9. PubMed ID: 12876264
    [No Abstract] [Full Text] [Related]

  • 17. 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 11; 15(5):2872-81. PubMed ID: 7739567
    [Abstract] [Full Text] [Related]

  • 18. Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.
    Yoneda M, Miyatake T, Attardi G.
    Muscle Nerve Suppl; 1995 May 11; 3():S95-101. PubMed ID: 7603536
    [Abstract] [Full Text] [Related]

  • 19. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
    Larsson NG, Tulinius MH, Holme E, Oldfors A, Andersen O, Wahlström J, Aasly J.
    Am J Hum Genet; 1992 Dec 11; 51(6):1201-12. PubMed ID: 1463006
    [Abstract] [Full Text] [Related]

  • 20. [MERRF (myoclonus epilepsy associated with ragged-red fibers)].
    Goto Y.
    Ryoikibetsu Shokogun Shirizu; 2001 Dec 11; (36):150-2. PubMed ID: 11596350
    [No Abstract] [Full Text] [Related]

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