Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04453-y
Abstract: Objective Anoctamin 5 ( ANO5 ) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 may present from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. Here we describe the… read more here.
Keywords: muscle biopsies; muscular dystrophy; dystrophy; three different ... See more keywords
Variation in mitochondrial respiratory capacity and myosin heavy chain composition in repeated muscle biopsies.
Sign Up to like & getrecommendations! Published in 2018 at "Analytical biochemistry"
DOI: 10.1016/j.ab.2018.06.029
Abstract: Skeletal muscle is a heterogeneous tissue and it is essential to know the methodological variation and reliability when measuring aspects of muscle function. We assessed the methodological and biological variation when measuring mitochondrial respiratory capacity… read more here.
Keywords: mitochondrial respiratory; biopsy; variation; muscle biopsies ... See more keywords
Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective
Sign Up to like & getrecommendations! Published in 2019 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2019.06.004
Abstract: The number of clinical trials for Duchenne muscular dystrophy is increasing. Many trials require muscle biopsies, which involve an invasive surgical procedure. Little is known about short- and long-term impacts of muscle biopsies as perceived… read more here.
Keywords: trials duchenne; muscle biopsies; patients caregivers; muscle ... See more keywords
Evaluating the effect of dorsal muscle biopsies on adult Atlantic salmon growth and marine return rates
Sign Up to like & getrecommendations! Published in 2020 at "Conservation Physiology"
DOI: 10.1093/conphys/coz099
Abstract: Abstract Increasing conservation and animal-welfare concerns have driven the development of non-lethal sampling of fish populations, with the use of muscle tissue biopsies now being routinely applied as a sampling method in the wild. Crucial… read more here.
Keywords: dorsal muscle; muscle biopsies; muscle; growth ... See more keywords
Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa031
Abstract: Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to the discovery of candidate therapeutics and it is important to identify markers of disease activity to inform clinical trial design. For drugs that… read more here.
Keywords: muscle biopsies; muscle; one year; disease activity ... See more keywords
Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity
Sign Up to like & getrecommendations! Published in 2020 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddaa164
Abstract: Abstract Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant myopathy characterized by slowly progressive skeletal muscle weakness and wasting. While a regenerative response is often provoked in many muscular dystrophies, little is known about whether a… read more here.
Keywords: muscle biopsies; muscle regeneration; muscle; muscular dystrophy ... See more keywords
The pattern of MHC class I expression in muscle biopsies from patients with myositis and other neuromuscular disorders.
Sign Up to like & getrecommendations! Published in 2023 at "Rheumatology"
DOI: 10.1093/rheumatology/kead052
Abstract: OBJECTIVE Diagnostic muscle biopsies are routinely immunostained for major histocompatibility complex class I (MHC-I) protein. In this study, we analyzed the prevalence and patterns of MHC-I immunostaining in biopsies from patients with different types of… read more here.
Keywords: muscle biopsies; biopsies patients; myopathies neurogenic; mhc immunostaining ... See more keywords
Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis
Sign Up to like & getrecommendations! Published in 2020 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-216599
Abstract: Objectives Myositis is a heterogeneous family of diseases that includes dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotising myopathy (IMNM), inclusion body myositis (IBM), polymyositis and overlap myositis. Additional subtypes of myositis can be defined by… read more here.
Keywords: muscle biopsies; machine learning; muscle; unique gene ... See more keywords
Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis
Sign Up to like & getrecommendations! Published in 2022 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/ard-2022-223792
Abstract: Objectives Inflammatory myopathy or myositis is a heterogeneous family of immune-mediated diseases including dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotising myopathy (IMNM) and inclusion body myositis (IBM). Immune checkpoint inhibitors (ICIs) can also cause myositis… read more here.
Keywords: myositis; muscle biopsies; ici myositis; ici ... See more keywords
Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies
Sign Up to like & getrecommendations! Published in 2023 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/ard-2023-223873
Abstract: Objectives Myositis is a heterogeneous family of diseases including dermatomyositis (DM), immune-mediated necrotising myopathy (IMNM), antisynthetase syndrome (AS) and inclusion body myositis (IBM). Myositis-specific autoantibodies define different subtypes of myositis. For example, patients with anti-Mi2… read more here.
Keywords: mi2 autoantibodies; chd4 nurd; muscle biopsies; muscle ... See more keywords
Feasibility, Efficacy, and Safety of Percutaneous Muscle Biopsies in Patients With Chronic Liver Disease
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2021.817152
Abstract: Introduction Sarcopenia is present in many chronic disease states including decompensated end stage liver disease (ESLD) and non-cirrhotic non-alcoholic fatty liver disease (NAFLD). Sarcopenia in ESLD can negatively impact quality of life and increase mortality.… read more here.
Keywords: muscle; liver disease; percutaneous muscle; biopsies patients ... See more keywords