Associated Papers
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
Herasse M et al.
Journal of Neuropathology and Experimental Neurology, 2007
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
Okamoto Y et al.
Neurogenetics, 2006
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Clarke NF et al.
Annals of Neurology, 2006
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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