Associated Papers
The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.
González-García P et al.
Communications Medicine, 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
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1
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
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.
Desbats MA et al.
Brain : a Journal of Neurology, 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
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Liu XX et al.
Brain : a Journal of Neurology, 2023
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Jacquier A et al.
Brain : a Journal of Neurology, 2023
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