A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1992 • 1,103 citations

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1992 • 612 citations

The complete nucleotide sequence of theRattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates

1989 • 523 citations

Defects in Mitochondrial Protein Synthesis and Respiratory Chain Activity Segregate with the tRNA^Leu(UUR) Mutation Associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes

1992 • 426 citations

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1992 • 408 citations

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

1992 • 336 citations

tRNA IDENTITY

1989 • 240 citations

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

1993 • 167 citations

Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.

1991 • 164 citations

Mitochondrial diseases: genotype versus phenotype

1993 • 130 citations

Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

1992 • 101 citations

Epigenetic inheritance in mammals

1993 • 79 citations

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

1992 • 71 citations

The T-loop region of animal mitochondrial tRNA^Ser(AGY) is a main recognition site for homologous seryl-tRNA synthetase

1992 • 50 citations

Audiologic findings in a family with mitochondrial disorder.

1991 • 34 citations

Biochemical characterization of a pedigree with mitochondrially inherited deafness

1992 • 30 citations

A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: Evidence from pedigree segregation analysis

1993 • 22 citations

Hearing impairment and the Kearns-Sayre syndrome

1988 • 19 citations