Associated Papers
Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.
Zhang XY et al.
Brain : a Journal of Neurology, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC et al.
Neurology. Genetics, 2023
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options.
Wang Y et al.
Molecular Genetics and Metabolism Reports, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Fung JLF et al.
Npj Genomic Medicine, 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
A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Kwong AK et al.
Jimd Reports, 2019
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