Associated Papers
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
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.
Yüksel MF 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
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L et al.
Journal of Medical Genetics, 2022
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
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