Associated Papers
Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Mohammadi P et al.
Annals of Clinical and Translational Neurology, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy.
Becchi G et al.
International Journal of Molecular Sciences, 2025
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
Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.
Zeppieri M et al.
International Journal of Molecular Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Weisschuh N et al.
Human Molecular Genetics, 2022
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
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Li H et al.
Ophthalmic Genetics, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.
Bocca C et al.
Investigative Ophthalmology & Visual Science, 2018
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.
Zhang AM et al.
Molecular Neurobiology, 2017
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
Majander A et al.
Investigative Ophthalmology & Visual Science, 2017
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.
Li Y et al.
Plos One, 2017
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
Kullar PJ et al.
Brain : a Journal of Neurology, 2016
Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
Rönnbäck C et al.
Acta Ophthalmologica, 2015
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
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.
Yu-Wai-Man P et al.
Ophthalmology, 2013
SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations.
Schild AM et al.
Biomed Research International, 2013
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P et al.
Eye (london, England), 2011
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2011
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
Yu-Wai-Man P et al.
Human Molecular Genetics, 2010
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Chevrollier A et al.
Annals of Neurology, 2008
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Schimpf S et al.
Human Mutation, 2008
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O et al.
Human Mutation, 2003