Associated Papers
Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.
Lanza M et al.
Biomolecules, 2026
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Kucera KS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.
Patrick MT et al.
Genome Medicine, 2022
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Hoei-Hansen CE et al.
Neuropediatrics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].
Iwafuchi Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Silwal A et al.
Annals of Clinical and Translational Neurology, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN et al.
Neurology, 2020
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C et al.
Human Mutation, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M et al.
Neuromuscular Disorders : Nmd, 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
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
SEPN1-related myopathies: clinical course in a large cohort of patients.
Scoto M et al.
Neurology, 2011
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
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
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
Venance SL et al.
Neurology, 2005
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
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Ferreiro A et al.
Annals of Neurology, 2004
[A case of congenital myopathy with type 2 fiber hypotrophy].
Touge T et al.
Rinsho Shinkeigaku = Clinical Neurology, 1988
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0