Results 31 to 40 of about 466,057 (189)
Generation of iMyoblasts from Human Induced Pluripotent Stem Cells
Bio-Protocol, 2022 Skeletal muscle stem cells differentiated from human-induced pluripotent stem cells (hiPSCs) serve as a uniquely promising model system for investigating human myogenesis and disease pathogenesis, and for the development of gene editing and regenerative ...
Dongsheng Guo +4 more
doaj +1 more source
BMC Medical Genomics, 2022 Background Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of ...
Cecilia Contreras-Cubas +7 more
doaj +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core
Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review
Muscle &Nerve, EarlyView.ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han +3 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
wiley +1 more source
Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]
, 2010 The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core
Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle
Frontiers in Physiology, 2014 The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr +2 more
doaj +1 more source
The FEBS Journal, EarlyView.Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong +6 more
wiley +1 more source
The limb-girdle muscular dystrophies—Diagnostic strategies
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007 The limb-girdle muscular dystrophies are a group of disorders where our understanding of their underlying molecular basis has made huge strides over the past years, revealing great heterogeneity at the clinical and molecular level. The availability of direct protein and/ or gene based approaches to diagnosis means that these disorders can now be ...
Bushby, Kate +2 more
openaire +3 more sources