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

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

1988 • 20,341 citations

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

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

1990 • 2,006 citations

Compilation of tRNA sequences and sequences of tRNA genes

2004 • 1,921 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

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

1990 • 1,456 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

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1991 • 389 citations

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1991 • 384 citations

Optimal conditions for directly sequencing double-stranded PCR products with Sequenase

1990 • 357 citations

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

1990 • 345 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.

1991 • 297 citations

Ageing-associated 5 kb deletion in human liver mitochondrial DNA

1991 • 247 citations

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1991 • 241 citations

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

1991 • 236 citations

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

1991 • 234 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1991 • 125 citations

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1991 • 123 citations

Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy

1991 • 107 citations

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

1977 • 105 citations

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

1991 • 93 citations

Mitochondrial tRNAthr mutation in fatal infantile respiratory enzyme deficiency

1991 • 81 citations

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria

1991 • 76 citations