Molecular genetic characterization of an X‐linked form of Leigh's syndrome

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

1951 • 761 citations

X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex

1989 • 136 citations

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1991 • 106 citations

Leigh syndrome, a mitochondrial encephalo(myo)pathy

1987 • 91 citations

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1986 • 90 citations

Kinase activator protein mediates longer-term effects of starvation on activity of pyruvate dehydrogenase kinase in rat liver mitochondria

1986 • 76 citations

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

1992 • 72 citations

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

1990 • 52 citations

Pyruvate dehydrogenase E1α deficiency

1992 • 50 citations

X-Linked Leigh's syndrome

1982 • 25 citations