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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
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
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA et al.
Scientific Reports, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Gibson S et al.
American Journal of Medical Genetics. Part A, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR et al.
Annals of Clinical and Translational Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Sharkia R et al.
Journal of Inherited Metabolic Disease, 2019
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Marelli C et al.
Neurology. Genetics, 2018
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Bouwkamp CG et al.
Neurology. Genetics, 2018
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.
Srivastava S et al.
Journal of Child Neurology, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
Abela L et al.
Plos One, 2017
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Sadat R et al.
Molecular Genetics and Metabolism, 2016
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodiev MD et al.
Journal of Medical Genetics, 2014