Associated Papers
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
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 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
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
Hsu CJ et al.
Epilepsy & Behavior : E&b, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
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
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH et al.
Npj Genomic Medicine, 2019
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
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