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199 related items for PubMed ID: 7606176

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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; 51(6):1201-12. PubMed ID: 1463006
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. 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 Sep; 1(1):80-7. PubMed ID: 8069654
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  • 8. 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
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  • 10. 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 Oct; 1(1):88-95. PubMed ID: 8069655
    [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. 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 15; 54(6):966-74. PubMed ID: 8198140
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
    Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP.
    J Neurol Sci; 2009 Jun 15; 281(1-2):85-92. PubMed ID: 19278689
    [Abstract] [Full Text] [Related]

  • 15. High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome.
    Liu CS, Cheng WL, Chen YY, Ma YS, Pang CY, Wei YH.
    Ann N Y Acad Sci; 2005 May 15; 1042():82-7. PubMed ID: 15965049
    [Abstract] [Full Text] [Related]

  • 16. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
    Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S.
    Am J Hum Genet; 1992 Dec 15; 51(6):1213-7. PubMed ID: 1361099
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 33(6):640-5. PubMed ID: 8388680
    [Abstract] [Full Text] [Related]

  • 18. Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).
    Seibel P, Degoul F, Bonne G, Romero N, François D, Paturneau-Jouas M, Ziegler F, Eymard B, Fardeau M, Marsac C.
    J Neurol Sci; 1991 Oct 15; 105(2):217-24. PubMed ID: 1661776
    [Abstract] [Full Text] [Related]

  • 19. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
    Boulet L, Karpati G, Shoubridge EA.
    Am J Hum Genet; 1992 Dec 15; 51(6):1187-200. PubMed ID: 1334369
    [Abstract] [Full Text] [Related]

  • 20. Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.
    Yoneda M, Miyatake T, Attardi G.
    Muscle Nerve Suppl; 1995 Dec 15; 3():S95-101. PubMed ID: 7603536
    [Abstract] [Full Text] [Related]

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