Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

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

Mitochondrial disease in mouse results in increased oxidative stress

Luke Esposito, Simon Melov, Alexander Panov et al. · Proceedings of the National Academy of Sciences · 1999 · 637 citations

Life Sciences, Biochemistry, Cell Biology +17

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Antonio Torroni, M. Petrozzi, Leila D'Urbano et al. · PubMed · 1997 · 417 citations

Life Sciences, Genetics, Molecular Genetics +13

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Gavin Hudson, Valério Carelli, Liesbeth Spruijt et al. · The American Journal of Human Genetics · 2007 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

Raquel Moreno‐Loshuertos, Rebeca Acín‐Pérez, Patricio Fernández‐Silva et al. · Nature Genetics · 2006 · 330 citations

Life Sciences, Genetics, Molecular Genetics +13