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
Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a Sibling.
Ha DJ et al.
Frontiers in Genetics, 2022
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K et al.
Scientific Data, 2021
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
Tozawa T et al.
Human Genome Variation, 2021
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M et al.
Brain Communications, 2021
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR et al.
Annals of Clinical and Translational Neurology, 2020
Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.
Fukada M et al.
Molecular Genetics & Genomic Medicine, 2019
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