Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

Paul Riordan‐Eva, M D Sanders, G.G. Govan et al. · Brain · 1995 · 482 citations

The Clinical Characteristics of Pedigrees of Leber's Hereditary Optic Neuropathy With the 11778 Mutation

Nancy J. Newman, Marie T. Lott, Douglas C. Wallace · American Journal of Ophthalmology · 1991 · 399 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +12

Leber's Hereditary Optic Neuroretinopathy, a Maternally Inherited Disease

Eeva Nikoskelainen · Archives of Ophthalmology · 1987 · 164 citations

Nuclear genetic control of mitochondrial DNA segregation

Brendan J. Battersby, Jorge Loredo‐Osti, Eric A. Shoubridge · Nature Genetics · 2003 · 144 citations

Chromatin, Mitochondrial Biogenesis, Mitochondrial Function +7

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

Patrick F. Chinnery, Richard M. Andrews, Douglass M. Turnbull et al. · American Journal of Medical Genetics · 2001 · 144 citations