Associated Papers
Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.
Fontaine F et al.
European Journal of Human Genetics : Ejhg, 2025
40579432 (PubMed )
Supplement: 41431_2025_1895_MOESM1_ESM.xlsx › Feuil1
Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variant.
Donis R et al.
Journal of Diabetes Investigation, 2025
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.
Berardo A et al.
Journal of Translational Genetics and Genomics, 2020
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC et al.
Journal of Inherited Metabolic Disease, 2018
Lethal Neonatal CoQ Deficiency due to a COQ9 Variant.
Finsterer J et al.
Journal of Pediatric Neurosciences, 0
Select a paper to view details