Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

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

1990 • 2,006 citations

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1984 • 1,160 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

1951 • 761 citations

Mitochondrial myopathies

1985 • 682 citations

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1958 • 620 citations

A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA

1989 • 566 citations

THE CLINICAL FEATURES OF MITOCHONDRIAL MYOPATHY

1986 • 418 citations

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?

1980 • 417 citations

DIFFUSE PROGRESSIVE DEGENERATION OF THE GRAY MATTER OF THE CEREBRUM

1931 • 203 citations

MELAS syndrome

1988 • 179 citations

The significance of the incidental finding of basal ganglia calcification on computed tomography.

1981 • 148 citations

Textbook of Endocrinology

1974 • 117 citations

Mitochondria1 encephalomyopathy with decreased succinate‐cytochrome c reductase activity

1984 • 87 citations

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

1991 • 85 citations

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

1992 • 76 citations

Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease)

1969 • 74 citations

Occasional survey. Needle biopsy of skeletal muscle: A review of 10 years experience

1983 • 73 citations

Clinical correlations of CT scan‐detected calcifications of the basal ganglia

1979 • 67 citations

Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity

1986 • 66 citations

Small, beautiful and essential

1989 • 46 citations

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy.

1988 • 44 citations

Significance of Basal Ganglia Calcification on Computed Tomography in Children

1988 • 32 citations

MELAS Syndrome Involving a Mother and Two Children

1987 • 31 citations

Mitochondrial Encephalomyopathies

1988 • 26 citations

Biogenesis of mitochondria and genetics of mitochondrial defects

1987 • 23 citations

Chemistry of dihydropterins and tetrahydropterins

1978 • 18 citations

The molecular aetiology of human mitochondrial myopathies

1987 • 14 citations

Familial Mitochondrial Encephalomyopathy with Stroke‐like Episodes and Episodic Disturbances of Consciousness: A Study of Pedigree Including Three Generations with Multisystemic Abnormalities

1987 • 4 citations