A novel point mutation in the mitochondrial tRNA^Leu(UUR) gene in a family with mitochondrial myopathy

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

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

1990 • 2,006 citations

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

1988 • 1,582 citations

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

1992 • 390 citations

Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination

1989 • 289 citations

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1991 • 234 citations

Strongly succinate dehydrogenase–reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes

1991 • 182 citations

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

1990 • 101 citations

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

1988 • 101 citations

Deficiency of subunits of complex I and mitochondrial encephalomyopathy

1988 • 90 citations

[A case of complex I deficiency with episodic respiratory distress].

1990 • 2 citations