MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS

On the Origin of Cancer Cells

1956 • 12,141 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 CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDY

1962 • 943 citations

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

1992 • 878 citations

Mitochondrial Myopathy Caused by Long-Term Zidovudine Therapy

1990 • 845 citations

Activation of the human mitochondrial transcriptionfactor A gene by nuclear respiratory factors: a potential regulatory linkbetween nuclear and mitochondrial gene expression in organellebiogenesis.

1994 • 765 citations

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1989 • 722 citations

Replication and Transcription of Vertebrate Mitochondrial DNA

1991 • 629 citations

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

1991 • 548 citations

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

1990 • 456 citations

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

1991 • 398 citations

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

1991 • 389 citations

Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA

1987 • 381 citations

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

1991 • 324 citations

A mammalian Mitochondrial RNA Processing Activity Contains Nucleus-Encoded RNA

1987 • 314 citations

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.

1994 • 312 citations

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

1992 • 298 citations

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

1991 • 297 citations

Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA

1988 • 275 citations

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1993 • 262 citations

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1993 • 259 citations

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

1991 • 241 citations

An autosomal locus predisposing to deletions of mitochondrial DNA

1995 • 240 citations

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

1992 • 226 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

Mitochondrial tRNAlle mutation in fatal cardiomyopathy

1992 • 167 citations

Maternal inheritance of the mouse mitochondrial genome is not mediated by a loss or gross alteration of the paternal mitochondrial DNA or by methylation of the oocyte mitochondrial DNA

1984 • 156 citations

Reference charts for respiratory chain activities in human tissues

1994 • 134 citations

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

1994 • 127 citations

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

1991 • 123 citations

A mitochondrial tRNA anticodon swap associated with a muscle disease

1993 • 120 citations

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1994 • 120 citations

Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. Functional integrity of mitochondrial DNA from aged subjects.

1994 • 116 citations

In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNA^Lys Gene: Two Genotypes Produce Similar Phenotypes

1995 • 111 citations

Transcribed heteroplasmic repeated sequences in the porcine mitochondrial DNA D-loop region

1993 • 105 citations

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

1991 • 101 citations

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

1993 • 100 citations

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

1993 • 98 citations

Complex Mitochondrial DNA

1968 • 95 citations

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

1991 • 93 citations

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

1985 • 89 citations

Mitochondrial tRNAthr mutation in fatal infantile respiratory enzyme deficiency

1991 • 81 citations

Occurrence of Complex Mitochondrial DNA in Normal Tissues

1968 • 78 citations

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

1992 • 76 citations

Efficient Incorporation of Anti-HIV Deoxynucleotides by Recombinant Yeast Mitochondrial DNA Polymerase

1995 • 73 citations

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

1992 • 62 citations

A MOLECULAR GENETIC STUDY OF FOCAL HISTOCHEMICAL DEFECTS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

1992 • 56 citations

Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child.

1992 • 50 citations

Energy, oxidative damage, and Alzheimer's disease: Clues to the underlying puzzle

1994 • 39 citations

7 Transfer RNA: An RNA for All Seasons

1993 • 30 citations