Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

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Mitochondrial dysfunction affecting visual pathways

(2014) S. Leruez et al.   REVUE NEUROLOGIQUE

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

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176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

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Human CoQ10deficiencies

(2009) C. M. Quinzii et al.   BIOFACTORS