Associated Papers
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 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
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › PDSS1
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Vasta V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
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