A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

1992 • 476 citations

A perspective of the binding change mechanism for ATP synthesis ¹

1989 • 259 citations

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

1992 • 184 citations

The mechanism of ATP synthase: A reassessment of the functions of the b and a subunits

1986 • 172 citations

Leigh syndrome, a mitochondrial encephalo(myo)pathy

1987 • 91 citations

H+ transport and coupling by the F0 sector of the ATP synthase: Insights into the molecular mechanism of function

1992 • 63 citations

Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy

1992 • 37 citations

Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain

1987 • 26 citations

Detection of extremely low levels of wild‐type mitochondrial DNA in the liver of a patient with pearson syndrome by a sensitive PCR assay

1992 • 10 citations