The correlation between pathology, biochemistry and molecular genetics in mitochondrial encephalomyopathies

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1990 • 2,006 citations

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

1990 • 1,456 citations

A MICROSPECTROPHOTOMETRIC METHOD FOR THE DETERMINATION OF CYTOCHROME OXIDASE

1951 • 1,369 citations

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

1989 • 1,009 citations

NONDROPLET ULTRASTRUCTURAL DEMONSTRATION OF CYTOCHROME OXIDASE ACTIVITY WITH A POLYMERIZING OSMIOPHILIC REAGENT, DIAMINOBENZIDINE (DAB)

1968 • 892 citations

A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA

1989 • 566 citations

Differential investigation of the capacity of succinate oxidation in human skeletal muscle

1985 • 458 citations

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms

1989 • 102 citations

Progressive cytochrome c oxidase deficiency in a case of earns‐sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

1987 • 95 citations

Steady-state kinetics of high molecular weight (type-I) NADH dehydrogenase

1976 • 89 citations

Mitochondria and muscular diseases

1982 • 73 citations

Mitochondria and Muscular Diseases

1982 • 69 citations

Cytochromec oxidase deficiency in infancy

1989 • 40 citations