mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

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

1988 • 17,059 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

Sequence and gene organization of mouse mitochondrial DNA

1981 • 1,712 citations

Complete sequence of bovine mitochondrial DNA conserved features of the mammalian mitochondrial genome

1982 • 1,491 citations

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

1990 • 1,456 citations

Biogenesis of Mitochondria

1988 • 1,396 citations

Replication of animal mitochondrial DNA

1982 • 1,221 citations

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

1989 • 1,009 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 730 citations

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

1988 • 637 citations

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

1989 • 637 citations

Rapid examination of muscle tissue

1963 • 582 citations

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

1989 • 566 citations

The Number of Mitochondrial Deoxyribonucleic Acid Genomes in Mouse L and Human HeLa Cells

1974 • 520 citations

Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos

1987 • 435 citations

Cytochrome c oxidase deficiency in leigh syndrome

1987 • 368 citations

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

1990 • 341 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

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

1989 • 303 citations

Number of mitochondria and some properties of mitochondrial DNA in the mouse egg

1976 • 237 citations

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

1989 • 212 citations

Mitochondrial DNA copy number in bovine oocytes and somatic cells

1982 • 208 citations

Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate

1989 • 206 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

Mitochondrial DNA in mortal and immortal human cells. Genome number, integrity, and methylation.

1983 • 197 citations

Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

1990 • 152 citations

Synthesis of macromolecules in early mouse embryos cultured in vitro: RNA, DNA, and a polysaccharide component

1970 • 141 citations

Molecular analysis of cloned human 18S ribosomal DNA segments.

1978 • 124 citations

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin

1983 • 112 citations

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1990 • 97 citations

Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA

1985 • 89 citations

On the number of ribosomal RNA Genes in man

1972 • 75 citations

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

1989 • 73 citations

An established avian fibroblast cell line without mitochondrial DNA

1986 • 70 citations

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

1989 • 65 citations

Quantitation of Human Ribosomal DNA: Hybridization of Human DNA with Ribosomal RNA for Quantitation and Fractionation

1973 • 65 citations

Characterization and Localization of the Human Genes for Ribosomal Ribonucleic Acid

1977 • 32 citations

A new estimate of human ribosomal gene number

1976 • 30 citations

Program of early development in the mammal: Synthesis of mitochondrial proteins during oogenesis and early embryogenesis in the mouse

1981 • 26 citations