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
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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
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