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
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.
Nitta Y et al.
Elife, 2024
Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.
Jagadish S et al.
Epilepsy & Behavior Reports, 2024
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 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
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 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
Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.
Zeng T et al.
Bmc Pediatrics, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 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
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S et al.
Plos One, 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
Metabolic stroke in a patient with bi-allelic OPA1 mutations.
Zerem A et al.
Metabolic Brain Disease, 2019
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
OPA1: How much do we know to approach therapy?
Del Dotto V et al.
Pharmacological Research, 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
Pluripotent Stem Cell-Based Approaches to Explore and Treat Optic Neuropathies.
Rabesandratana O et al.
Frontiers in Neuroscience, 2018
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Kane MS et al.
Journal of Cellular and Molecular Medicine, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A et al.
Orphanet Journal of Rare Diseases, 2017
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.
Bonifert T et al.
Molecular Therapy. Nucleic Acids, 2016
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).
Hauser S et al.
Stem Cell Research, 2016
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J et al.
Molecular Medicine Reports, 2016
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM et al.
Neurobiology of Disease, 2016
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R et al.
Journal of Medical Genetics, 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
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
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
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0