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
Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant.
Li Z et al.
Stem Cell Research, 2025
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
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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Arruti N et al.
Current Issues in Molecular Biology, 2023
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han J et al.
Bmc Ophthalmology, 2022
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
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW et al.
Genes, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 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
Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation.
Caglayan S et al.
Iscience, 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
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
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.
Bocca C et al.
Investigative Ophthalmology & Visual Science, 2018
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P et al.
Acta Ophthalmologica, 2017
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.
Zhang AM et al.
Molecular Neurobiology, 2017
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
Loo JL et al.
Eye (london, England), 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
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM et al.
Neurobiology of Disease, 2016
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
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
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
Chen Y et al.
Molecular Vision, 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
OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.
Hamahata T et al.
Japanese Journal of Ophthalmology, 2012
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
Schaaf CP et al.
Molecular Genetics and Metabolism, 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