Associated Papers
Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.
Wang H et al.
Orphanet Journal of Rare Diseases, 2025
Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy.
Nagy MA et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 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
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
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.
Ścieżyńska A et al.
Plos One, 2017
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Gaier ED et al.
Molecular Vision, 2017
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
Rocca MA et al.
Journal of Neurology, 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
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Schimpf S et al.
Human Mutation, 2008
A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.
Ban Y et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2007