Associated Papers
Generation of an induced pluripotent stem cell (iPSC) line (XMUi001-A) derived from a patient harboring homozygous mutations c.370G > A (p.Gly124Ser) in the COQ4 gene.
Wang M et al.
Stem Cell Research, 2025
Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis.
Yu Z et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene.
Atasay R et al.
Molecular Syndromology, 2025
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
Wei Q et al.
Cns Neuroscience & Therapeutics, 2024
Ethnically unique disease burden and limitations of current expanded carrier screening panels.
Chen CL et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
Lin X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.
Pan P et al.
Frontiers in Pediatrics, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
Hsu CJ et al.
Epilepsy & Behavior : E&b, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Wong TS et al.
Orphanet Journal of Rare Diseases, 2023
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Wang S et al.
Antioxidants (basel, Switzerland), 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Cordts I et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L et al.
Journal of Medical Genetics, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Xie J et al.
Frontiers in Genetics, 2021
[Primary coenzyme Q10 deficiency-7: a case report and literature review].
Chen XR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
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
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 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
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.
Ling TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.
Lu M et al.
Journal of Human Genetics, 2019
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH et al.
Npj Genomic Medicine, 2019