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
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
34867752 (PubMed )
Supplement: Table_1.XLSX › list
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M et al.
The Journal of Gene Medicine, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN et al.
Neurology, 2020
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
Castets P et al.
Bmc Developmental Biology, 2009
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
Allamand V et al.
Embo Reports, 2006
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
Petit N et al.
Human Molecular Genetics, 2003
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Moghadaszadeh B et al.
Nature Genetics, 2001
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