In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNA^Lys Gene: Two Genotypes Produce Similar Phenotypes

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1992 • 1,721 citations

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

1990 • 1,456 citations

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1990 • 1,390 citations

Rat Insulin Genes: Construction of Plasmids Containing the Coding Sequences

1977 • 1,252 citations

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Defects in Mitochondrial Protein Synthesis and Respiratory Chain Activity Segregate with the tRNA^Leu(UUR) Mutation Associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes

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Errors and alternatives in reading the universal genetic code

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

1992 • 336 citations

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

1992 • 330 citations

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1990 • 302 citations

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A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

1992 • 226 citations

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Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)

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Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

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A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

1990 • 105 citations

Ribosomal Frameshifting from -2 to +50 Nucleotides

1990 • 103 citations

Translational frameshifting: Where will it stop?

1987 • 103 citations

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

1989 • 99 citations

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

1991 • 85 citations

Cytochrome c oxidase deficiency in Leigh's syndrome

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The where, what and how of ribosomal frameshifting in retroviral protein synthesis

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The nucleic acid-binding zinc finger protein of potato virus M is translated by internal initiation as well as by ribosomal frameshifting involving a shifty stop codon and a novel mechanism of P-site slippage

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1983 • 52 citations

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

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Aminoacyl RNA domain of turnip yellow mosaic virus Val-RNA interacting with elongation factor Tu

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Leftward ribosome frameshifting at a hungry codon

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Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged‐red fiber disease point mutation in mitochondrial DNA

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Crosslinking of elongation factor Tm to tRNA^Pheby trans-diamminedichloroplatinum (II). Characterization of two crosslinking sites in the tRNA

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Regulation of mitochondrial ribosomal RNA synthesis in yeast

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Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies

1990 • 7 citations