Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf
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
39000346 (PubMed )
Supplement: ijms-25-07240-s001.zip › ijms-3020901-supplementary.pdf
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K et al.
Scientific Data, 2021
Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches.
García-López M et al.
Genes, 2021
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M et al.
Brain Communications, 2021
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.
Cerrada V et al.
Stem Cell Research, 2019
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