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
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
A rare case of myopathy with fatigability due to PYROXD1 variation.
Baskar D et al.
Journal of Neuromuscular Diseases, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
40000157 (PubMed )
Supplement: CGE-108-318-s003.docx
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Evesson FJ et al.
Human Molecular Genetics, 2023
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H et al.
Brain : a Journal of Neurology, 2023
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.
Sainio MT et al.
Acta Neurologica Scandinavica, 2022
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler HS et al.
American Journal of Medical Genetics. Part A, 2021
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Woods JD et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X et al.
Acta Neuropathologica Communications, 2019
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio MT et al.
Journal of Neurology, 2019
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M et al.
Physiological Genomics, 2018
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL et al.
American Journal of Human Genetics, 2016
Select a paper to view details