Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
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
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K et al.
Scientific Data, 2021
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M et al.
Brain Communications, 2021
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
32519519 (PubMed )
Supplement: ACN3-7-1013-s004.xlsx › Sheet1
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 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
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
Select a paper to view details