Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.
Feng Z et al.
Kidney International Reports, 2025
An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex.
Vargas-Pérez MLÁ et al.
Antioxidants (basel, Switzerland), 2024
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH et al.
Orphanet Journal of Rare Diseases, 2020
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.
Wu X et al.
Bmc Medical Genetics, 2019
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.
Barca E et al.
Journal of Neuropathology and Experimental Neurology, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K et al.
Molecular Neurodegeneration, 2014
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS et al.
Journal of the Neurological Sciences, 2013
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F et al.
Journal of the American Society of Nephrology : Jasn, 2007
Select a paper to view details