Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

Medicine, Genetics, Molecular Genetics +12

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

John M. Shoffner, Marie T. Lott, Angela Maria Serena Lezza et al. · Cell · 1990 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +16

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Ian Holt, A. E. Harding, Richard Petty et al. · PubMed · 1990 · 1K citations

Life Sciences, Genetics, Molecular Genetics +14

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Neil Howell, Laurence A. Bindoff, D A McCullough et al. · PubMed · 1991 · 399 citations

Life Sciences, Genetics, Molecular Genetics +14