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
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
Chang HC et al.
Elife, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Jackson TD et al.
Biochemical Society Transactions, 2018
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S et al.
Clinical Genetics, 2017
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN et al.
Mayo Clinic Proceedings, 2016
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
Calderwood L et al.
Journal of Child Neurology, 2016
Disulfide bond formation: sulfhydryl oxidase ALR controls mitochondrial biogenesis of human MIA40.
Sztolsztener ME et al.
Traffic (copenhagen, Denmark), 2013
Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .
Daithankar VN et al.
Biochemistry, 2010
Iron-sulfur proteins in health and disease.
Sheftel A et al.
Trends in Endocrinology and Metabolism: Tem, 2010
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
Di Fonzo A et al.
American Journal of Human Genetics, 2009
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0