Associated Papers
Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases.
AlFaris HS et al.
Movement Disorders Clinical Practice, 2025
Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience
Papatya Çakır ED et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Halperin D et al.
American Journal of Medical Genetics. Part A, 2020
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.
Swenson S et al.
The Journal of Biological Chemistry, 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
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M et al.
American Journal of Medical Genetics. Part A, 2011
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Bugiani M et al.
Journal of Medical Genetics, 2005
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