Results 41 to 50 of about 164,819 (283)
Frontiers in Oncology, 2022 Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal ...
Hongbin Yu +5 more
doaj +1 more source
Clinical pharmacology and therapy, 2019 Statins can be associated with myopathy. We have undertaken a genomewide association study (GWAS) to discover and validate genetic risk factors for statin‐induced myopathy in a “real‐world” setting.
D. Carr +15 more
semanticscholar +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague +8 more
wiley +1 more source
Myopathies of endocrine disorders: A prospective clinical and biochemical study
Annals of Indian Academy of Neurology, 2014 Introduction: Major categories of endocrine myopathy include those associated with: Adrenal dysfunction (as in Cushing′s disease or steroid myopathy); thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy); vitamin D deficiency; parathyroid ...
Vikas Sharma +5 more
doaj +1 more source
Poultry Science, 2020 The objective of this study was to evaluate the effects of wooden breast myopathy on water-holding, rheological, and gelling properties of chicken broiler breast batter. As to water-holding capacity, wooden breast myopathy significantly increased cooking
Yulong Zhang +5 more
doaj +1 more source
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
Scientific Reports, 2016 Mitochondrial functions are intrinsically linked to their morphology and membrane ultrastructure. Characterizing abnormal mitochondrial structural features may thus provide insight into the underlying pathogenesis of inherited and acquired mitochondrial ...
A. Vincent +12 more
semanticscholar +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source