Clinical spectrum of the MELAS mutation in a large pedigree

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

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

1990 • 2,006 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

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

1984 • 1,160 citations

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1992 • 1,103 citations

Mitochondrial myopathies

1985 • 682 citations

A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA

1994 • 557 citations

An improved and simplified radioisotopic assay for the determination of free and esterified carnitine

1976 • 536 citations

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1988 • 509 citations

MELAS: Clinical features, biochemistry, and molecular genetics

1992 • 503 citations

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

1992 • 390 citations

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

1991 • 384 citations

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

1992 • 298 citations

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

1991 • 241 citations

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1991 • 182 citations

MELAS syndrome

1988 • 179 citations

Mitochondrial encephalomyopathy, lactic acidosis, stroke‐like episodes (MELAS): Clinical, radiological, pathological, and genetic observations

1993 • 120 citations

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome

1991 • 105 citations

Widespread tissue distribution of a tRNA ^Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

1991 • 104 citations

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

1985 • 80 citations

Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient

1991 • 79 citations

Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene

1992 • 60 citations

MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

1994 • 54 citations

Mitochondrial encephalomyopathies: A correlation between neuropathological findings and defects in mitochondrial DNA

1991 • 50 citations

Mitochondrial Myopathy due to Complex III Deficiency With Normal Reducible Cytochrome b Concentration

1986 • 45 citations

Correlation between clinical and molecular features in two MELAS families

1992 • 43 citations

Mitochondrial encephalomyopathies with the mutation of mitochondrial tRNA^ gene

1992 • 35 citations

Mitochondrial Disorders in Neurology

1994 • 35 citations

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study

1993 • 32 citations

An Autopsy Case of Mitochondrial Encephalomyopathy (MELAS) with SpeciaI Reference to Extra‐neuromuscular AbnormaIities

1992 • 30 citations

The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS) were selectively amplified through generations

1992 • 25 citations

Multicenter trial with ubidecarenone: treatment of 44 patients with mitochondrial myopathies.

1991 • 13 citations

Stroke-like episodes in familial mitochondrial encephalomyopathy: clinical and biochemical aspects

1991 • 3 citations