Associated Papers
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 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
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
Hsu CJ et al.
Epilepsy & Behavior : E&b, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
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
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
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH et al.
Npj Genomic Medicine, 2019
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017