Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.
García-López M et al.
International Journal of Molecular Sciences, 2024
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han J et al.
Bmc Ophthalmology, 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Chang YH et al.
Investigative Ophthalmology & Visual Science, 2022
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW et al.
Genes, 2021
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N et al.
Plos One, 2021
Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy.
Zhang XH et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Li JK et al.
Translational Vision Science & Technology, 2020
Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.
Wang Y et al.
Molecular Vision, 2019
Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2014
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
Cohn AC et al.
American Journal of Ophthalmology, 2007
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Alavi MV et al.
Brain : a Journal of Neurology, 2007
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.
Nakamura M et al.
Ophthalmology, 2006
Drug-induced optic neuropathy-TB or not TB.
Pradhan M et al.
Survey of Ophthalmology, 0