Associated Papers
The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.
González-García P et al.
Communications Medicine, 2025
Time-resolved mitochondrial screen identifies regulatory components of oxidative metabolism.
Zamora-Dorta M et al.
Embo Reports, 2025
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA et al.
Journal of Inherited Metabolic Disease, 2024
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2024
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H et al.
Journal of Genetics, 2024
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
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP et al.
Brain : a Journal of Neurology, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A et al.
Brain : a Journal of Neurology, 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
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
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