Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

The mitochondrial genome: structure, transcription, translation and replication

1999 • 1,492 citations

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

1996 • 736 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

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1995 • 471 citations

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

1997 • 375 citations

OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

1992 • 373 citations

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows.

1982 • 370 citations

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

1994 • 308 citations

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1989 • 303 citations

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

1991 • 241 citations

Eco-Doppler arterial de miembros inferiores: la paradoja de la información cuantitativa y cualitativa

2005 • 229 citations

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

1992 • 223 citations

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

1996 • 186 citations

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

1991 • 182 citations

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form

1993 • 162 citations

Late‐onset mitochondrial myopathy

1995 • 148 citations

The mitochondrial DNA transfer RNA^LysA→G^[8344] mutation and the syndrome of myoclonic epilepsy with ragged red fibres [MERRF]

1993 • 143 citations

Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis

1998 • 137 citations

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring

1998 • 110 citations

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

1998 • 75 citations

Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic?

1997 • 71 citations

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

1999 • 70 citations

Treatment of mitochondrial disease.

1997 • 66 citations

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

1996 • 49 citations

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome

1995 • 48 citations

Antibodies to human optic nerve in Leber's hereditary optic neuropathy

1995 • 29 citations

The treatment of congenital lactic acidoses

1996 • 19 citations

Bottlenecks and beyond: mitochondrial DNA segregation in health and disease

1997 • 17 citations

HLA class II genotypes in Leber's hereditary optic neuropathy

1994 • 12 citations

HLA class I genotypes in Leber's hereditary optic neuropathy

1996 • 11 citations

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

1998 • 10 citations