Chronic progressive external ophthalmoplegia: A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

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

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

Muscle Biopsy: A Practical Approach

2020 • 1,357 citations

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

1989 • 1,009 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 730 citations

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1989 • 637 citations

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

1989 • 566 citations

Muscle Biopsy: A Practical Approach

1986 • 556 citations

VISUALIZATION OF PEROXISOMES (MICROBODIES) AND MITOCHONDRIA WITH DIAMINOBENZIDINE

1969 • 542 citations

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

1989 • 504 citations

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1989 • 303 citations

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

1989 • 212 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

Cloning of human mitochondrial DNA in Escherichia coli

1980 • 189 citations

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

1983 • 181 citations

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

1988 • 137 citations

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

1989 • 102 citations

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome

1990 • 95 citations

Mitochondrial DNA polymorphism in Japanese

1984 • 93 citations

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia

1983 • 83 citations

Selection of specific wheat germ agglutinin-resistant (WgaR) phenotypes from Chinese hamster ovary cell populations containing numerous lecR genotypes.

1981 • 75 citations

Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia

1985 • 58 citations

Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers

1988 • 49 citations

Assignment of the chloramphenicol resistance gene to mitochondrial deoxyribonucleic acid and analysis of its expression in cultured human cells.

1981 • 46 citations

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

1988 • 41 citations