Associated Papers
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.
Rufa A et al.
Brain Communications, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han J et al.
Bmc Ophthalmology, 2022
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 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
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
An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
Chen AT et al.
Plos One, 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
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.
Bocca C et al.
Investigative Ophthalmology & Visual Science, 2018
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani E et al.
Journal of the Neurological Sciences, 2017
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P et al.
Acta Ophthalmologica, 2017
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry.
Cesareo M et al.
Plos One, 2017
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J et al.
Molecular Medicine Reports, 2016
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM et al.
Neurobiology of Disease, 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
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
Rocca MA et al.
Journal of Neurology, 2015
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Ferré M et al.
Human Mutation, 2015
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T et al.
Brain : a Journal of Neurology, 2014
Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.
Alavi MV et al.
Molecular Neurodegeneration, 2013
Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.
Reis A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2013
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
Almind GJ et al.
Bmc Medical Genetics, 2012