Associated Papers
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.
Fan Y et al.
Frontiers in Genetics, 2022
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 clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN et al.
Neurology, 2020
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.
Varone E et al.
Redox Biology, 2019
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Arbogast S et al.
Annals of Neurology, 2009
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