Associated Papers
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A et al.
Cell Death and Differentiation, 2021
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN et al.
Neurology, 2020
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C et al.
Human Mutation, 2019
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.
Varone E et al.
Redox Biology, 2019
Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.
Viprey M et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A et al.
Journal of Medical Genetics, 2017
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
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Arbogast S et al.
Annals of Neurology, 2009
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Maiti B et al.
Human Mutation, 2009
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
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2004
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A et al.
American Journal of Human Genetics, 2002