Human Aging is Associated with Various Point Mutations in tRNA Genes of Mitochondrial DNA

‘Touchdown’ PCR to circumvent spurious priming during gene amplification

1991 • 2,630 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

Detection of a specific mitochondrial DNA deletion in tissues of older humans

1990 • 784 citations

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

1989 • 637 citations

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

1991 • 548 citations

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

1992 • 490 citations

Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence

1990 • 345 citations

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: An age-related alteration

1990 • 276 citations

Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly

1993 • 171 citations

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

1991 • 93 citations

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1991 • 72 citations

Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle

1986 • 64 citations

Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplification

1989 • 61 citations

Mutations In mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaa

1992 • 56 citations

Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies

1988 • 52 citations