Leber's hereditary optic neuropathy and complex I deficiency in muscle

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

Regulatory Functions of the Vascular Endothelium

1990 • 1,899 citations

Macrophage oxidation of L-arginine to nitrite and nitrate: nitric oxide is an intermediate

1988 • 1,622 citations

THE MITOCHONDRIAL ELECTRON TRANSPORT AND OXIDATIVE PHOSPHORYLATION SYSTEM

1985 • 1,599 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

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1990 • 1,390 citations

Biosynthesis and Metabolism of Endothelium-Derived Nitric Oxide

1990 • 1,284 citations

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

1989 • 1,009 citations

Mitochondrial myopathies

1985 • 682 citations

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1983 • 662 citations

Evidence for the inhibitory role of guanosine 3', 5'-monophosphate in ADP-induced human platelet aggregation in the presence of nitric oxide and related vasodilators

1981 • 629 citations

Differentiation of murine macrophages to express nonspecific cytotoxicity for tumor cells results in L-arginine-dependent inhibition of mitochondrial iron-sulfur enzymes in the macrophage effector cells.

1988 • 592 citations

Murine cytotoxic activated macrophages inhibit aconitase in tumor cells. Inhibition involves the iron-sulfur prosthetic group and is reversible.

1986 • 421 citations

Sites of inhibition of mitochondrial electron transport in macrophage-injured neoplastic cells.

1982 • 349 citations

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

1990 • 311 citations

Generation of nitric oxide by human neutrophils

1989 • 298 citations

IFN-γ-activated macrophages: Detection by electron paramagnetic resonance of complexes between L-Arginine-derived nitric oxide and non-heme iron proteins

1990 • 185 citations

Leber's Hereditary Optic Neuroretinopathy, a Maternally Inherited Disease

1987 • 164 citations

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

1989 • 161 citations

Leber's disease and dystonia

1986 • 153 citations

L-Arginine is a precursor for nitrate biosynthesis in humans

1989 • 133 citations

Variable Genotype of Leber's Hereditary Optic Neuropathy Patients

1990 • 115 citations

A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy

1989 • 114 citations

A NEW MANIFESTATION OF LEBER'S DISEASE AND A NEW EXPLANATION FOR THE AGENCY RESPONSIBLE FOR ITS UNUSUAL PATTERN OF INHERITANCE

1970 • 113 citations

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

1988 • 101 citations

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

1990 • 80 citations

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

1989 • 76 citations

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

1990 • 71 citations

The inheritance of Leber's disease

1985 • 70 citations

Mitochondria and Muscular Diseases

1982 • 69 citations

Tissue-specific genes for respiratory proteins

1989 • 65 citations

Letter Legibility and the Construction of a New Visual Acuity Chart

1984 • 64 citations

Cytochromec oxidase deficiency in infancy

1989 • 40 citations

Familial Striatal Degeneration

1973 • 38 citations

NEUROLOGICAL STUDIES IN FAMILIES WITH LEBER'S OPTIC ATROPHY

1971 • 36 citations

BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement

2009 • 29 citations

The heart in Leber's optic atrophy.

1970 • 28 citations

Leber's hereditary optic atrophy: further evidence for a defect of cyanide metabolism?

1989 • 24 citations

Sahlgren's Saturation Test for Detecting and Grading Acquired Dyschromatopsia

1981 • 24 citations

Biochemical and molecular aspects of cytochrome C oxidase deficiency.

1988 • 20 citations

Mitochondrial myopathy and cardiomyopathy in siblings

1989 • 18 citations

Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies.

1987 • 15 citations

Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy

1988 • 9 citations

MR and CT in cytoplasmically inherited striatal degeneration.

1986 • 8 citations

Normal rhodanese activity in leukocytes from Leber patients

1987 • 7 citations

Does sporadic Leber's disease exist?

1988 • 6 citations

The Boström-Kugelberg pseudo-isochromatic plates. How efficient is the third edition?

1985 • 4 citations