Muscular Dystrophy, Duchenne

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  Subject Areas on Research

  • A 1.3 kb promoter fragment confers spatial and temporal expression of utrophin A mRNA in mouse skeletal muscle fibers. 
  • A Transition Toolkit for Duchenne Muscular Dystrophy. 
  • A step toward the future of seamless measurement with wearable sensors in pediatric populations with neuromuscular diseases. 
  • AAV CRISPR editing rescues cardiac and muscle function for 18 months in dystrophic mice. 
  • AAV9 Edits Muscle Stem Cells in Normal and Dystrophic Adult Mice. 
  • Acute heart failure during spinal surgery in a boy with Duchenne muscular dystrophy. 
  • An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan. 
  • An unusual cause of dyspnoea in a young man. 
  • Ataluren treatment of patients with nonsense mutation dystrophinopathy. 
  • Cas9-specific immune responses compromise local and systemic AAV CRISPR therapy in multiple dystrophic canine models. 
  • Clinical and genetic characterization of manifesting carriers of DMD mutations. 
  • Commentary on "Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management". 
  • Commentary on "Supported Standing in Boys With Duchenne Muscular Dystrophy". 
  • Comparison of magnetic resonance feature tracking for strain calculation with harmonic phase imaging analysis. 
  • Comparison of right and left ventricular function and size in Duchenne muscular dystrophy. 
  • Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases. 
  • Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols. 
  • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. 
  • Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. 
  • Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. 
  • Duchenne muscular dystrophy and steroids: pharmacologic treatment in the absence of effective gene therapy. 
  • Dystrophin immunity in Duchenne's muscular dystrophy. 
  • Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. 
  • Effects of steroids and angiotensin converting enzyme inhibition on circumferential strain in boys with Duchenne muscular dystrophy: a cross-sectional and longitudinal study utilizing cardiovascular magnetic resonance. 
  • Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial. 
  • Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study. 
  • Evaluation of skeletal and cardiac muscle function after chronic administration of thymosin beta-4 in the dystrophin deficient mouse. 
  • Exercise and Duchenne muscular dystrophy: where we have been and where we need to go. 
  • Full-length dystrophin restoration via targeted exon integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy. 
  • Functional and molecular effects of arginine butyrate and prednisone on muscle and heart in the mdx mouse model of Duchenne Muscular Dystrophy. 
  • Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy. 
  • Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents. 
  • Glucocorticoid treatment alleviates dystrophic myofiber pathology by activation of the calcineurin/NF-AT pathway. 
  • Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. 
  • In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. 
  • Increased expression of utrophin in a slow vs. a fast muscle involves posttranscriptional events. 
  • Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. 
  • Lifeline. An interview of Kate Bushby. 
  • Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. 
  • Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy. 
  • Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. 
  • Membrane sealant Poloxamer P188 protects against isoproterenol induced cardiomyopathy in dystrophin deficient mice. 
  • Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. 
  • Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies. 
  • Motor axonopathies in a mouse model of Duchenne muscular dystrophy. 
  • Multiple regulatory events controlling the expression and localization of utrophin in skeletal muscle fibers: insights into a therapeutic strategy for Duchenne muscular dystrophy. 
  • Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. 
  • Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. 
  • Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. 
  • Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits. 
  • Orthopedic and Surgical Management of the Patient With Duchenne Muscular Dystrophy. 
  • Patients' and caregivers' maximum acceptable risk of death for non-curative gene therapy to treat Duchenne muscular dystrophy. 
  • Patterns of left ventricular remodeling in patients with Duchenne Muscular Dystrophy: a cardiac MRI study of ventricular geometry, global function, and strain. 
  • Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice. 
  • Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. 
  • Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. 
  • Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures. 
  • Presence of mechanical dyssynchrony in Duchenne muscular dystrophy. 
  • Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function. 
  • Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients. 
  • Profoundly lower muscle mass and rate of contractile protein synthesis in boys with Duchenne muscular dystrophy. 
  • Progress in therapy for Duchenne muscular dystrophy. 
  • Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. 
  • Regional circumferential strain is a biomarker for disease severity in duchenne muscular dystrophy heart disease: a cross-sectional study. 
  • Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy. 
  • Relationship of Right Ventricular Size and Function with Respiratory Status in Duchenne Muscular Dystrophy. 
  • Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial. 
  • Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. 
  • Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys. 
  • Should foot surgery be performed for children with Duchenne muscular dystrophy? 
  • Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy. 
  • Steroid treatment and the development of scoliosis in males with duchenne muscular dystrophy. 
  • Stimulation of calcineurin signaling attenuates the dystrophic pathology in mdx mice. 
  • Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. 
  • Targeted inhibition of Ca2+ /calmodulin signaling exacerbates the dystrophic phenotype in mdx mouse muscle. 
  • The CINRG Becker Natural History Study: Baseline characteristics. 
  • The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. 
  • The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic. 
  • The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies. 
  • The role of corticosteroids in Duchenne muscular dystrophy: a review for the anesthetist. 
  • Ultra-widefield imaging of Duchenne muscular dystrophy-associated proliferative retinal vasculopathy improved with panretinal laser photocoagulation alone. 
  • Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function. 
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  Keywords of People

  • Case, Laura Elizabeth, Associate Professor in Orthopaedic Surgery, Pediatrics, Medical Genetics