Mitochondrial optic neuropathies
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Elsevier
Reference217 articles.
1. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy;Achilli;PLoS One,2012
2. Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations;Agier;Biochim Biophys Acta,2012
3. Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy;Ahn;Graefes Arch Clin Exp Ophthalmol,2020
4. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000
5. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann Neurol,2005
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