Associated Papers
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.
Nitta Y et al.
Elife, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW et al.
Genes, 2021
High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
Cretin E et al.
Embo Molecular Medicine, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 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
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
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
Chao de la Barca JM et al.
Human Molecular Genetics, 2020
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA et al.
Ophthalmic Genetics, 2020
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
Napolitano F et al.
American Journal of Medical Genetics. Part A, 2020
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Maeda-Katahira A et al.
Molecular Vision, 2019
Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.
Wang Y et al.
Molecular Vision, 2019
Retinal dysfunction characterizes subtypes of dominant optic atrophy.
Cascavilla ML et al.
Acta Ophthalmologica, 2018
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Kane MS et al.
Journal of Cellular and Molecular Medicine, 2017
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM et al.
Neurobiology of Disease, 2016
Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
Namba K et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2016
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy.
Nolli C et al.
Mitochondrion, 2015
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Ferré M et al.
Human Mutation, 2015
OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.
Hamahata T et al.
Japanese Journal of Ophthalmology, 2012
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND et al.
American Journal of Medical Genetics. Part A, 2011
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M et al.
Human Mutation, 2009
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.
Chen S et al.
American Journal of Ophthalmology, 2007
The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
Ke T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006