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
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C et al.
Human Mutation, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.
Varone E et al.
Redox Biology, 2019
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Maggi L et al.
Neuromuscular Disorders : Nmd, 2013
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
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