Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q10 deficiency.
Herbrich S et al.
Stem Cell Research, 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
Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Molla GK et al.
Frontiers in Neurology, 2025
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Lopriore P et al.
Journal of Clinical Medicine, 2024
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 2024
Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.
Sonuç Kartal G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 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
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
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Clinical spectrum in multiple families with primary COQ10 deficiency.
Hashemi SS et al.
American Journal of Medical Genetics. Part A, 2021
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Xie J et al.
Frontiers in Genetics, 2021