Associated Papers
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
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
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
Abela L et al.
Plos One, 2017
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
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