Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Muscle Fiber Types: How Many and What Kind?

1970 • 2,152 citations

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

1990 • 2,006 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

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

1990 • 1,456 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

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

1992 • 476 citations

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

1990 • 248 citations

Leigh's Encephalomyelopathy in a Patient With Cytochrome c Oxidase Deficiency in Muscle Tissue

1977 • 237 citations

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1983 • 231 citations

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

1989 • 212 citations

Methods of microphotometric assay of succinate dehydrogenase and cytochromec oxidase activities for use on human skeletal muscle

1989 • 187 citations

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1991 • 182 citations

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia

1983 • 181 citations

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

1977 • 177 citations

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

1987 • 112 citations

Efficacy of alprazolam for essential tremor

1988 • 99 citations

Methods for Study of Normal and Abnormal Skeletal Muscle Mitochondria

1988 • 92 citations

Cytochrome c oxidase deficiency in Leigh's syndrome

1989 • 81 citations

Microphotometric measurement of initial maximum reaction rates in quantitative enzyme histochemistryin situ

1981 • 79 citations

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

1985 • 78 citations

On the nature of the ‘nothing dehydrogenase’ reaction

1985 • 66 citations

Enzyme activity measured in single muscle fibers in partial cytochrome c oxidase deficiency

1988 • 34 citations

Comparison of kinetic and end-point microdensitometry for the direct quantitative histochemical assessment of cytochrome oxidase activity

1979 • 19 citations

Defects of Complex I and Complex IV in Skeletal Muscle from Patients with Chronic Progressive External Ophthalmoplegia

1986 • 10 citations

MITOCHONDRIAL OXIDATIVE ENZYME ACTIVITY IN INDIVIDUAL FIBRE TYPES IN HYPO‐ AND HYPERTHYROID RAT SKELETAL MUSCLES

1984 • 8 citations

Cytochemical and Immunocytochemical Studies of Human Mitochondrial Myopathies

1989 • 3 citations

Cytochemical and immunocytochemical investigation of respiratory complexes in individual fibres of human skeletal muscle

1991 • 2 citations

Mutations of mitochondrial DNA: the molecular basis of mitochondrial encephalo-myopathies and ageing

1991 • 1 citations