Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2024
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H et al.
Journal of Genetics, 2024
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A et al.
Brain : a Journal of Neurology, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
Sadr Z et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC et al.
Neurology. Genetics, 2023
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Wang S et al.
Antioxidants (basel, Switzerland), 2022
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options.
Wang Y et al.
Molecular Genetics and Metabolism Reports, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
Fareed M et al.
Scientific Reports, 2021
Clinical spectrum in multiple families with primary COQ10 deficiency.
Hashemi SS et al.
American Journal of Medical Genetics. Part A, 2021
Clinical syndromes associated with Coenzyme Q10 deficiency.
Alcázar-Fabra M et al.
Essays in Biochemistry, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y et al.
Journal of Cellular and Molecular Medicine, 2017