• 274th ENMC international workshop: Recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024
• A case study of Duchenne muscular dystrophy caused by Alu element insertion in DMD gene and analysis of its gray-hair symptoms
• A comprehensive review on the current status of CRISPR based clinical trials for rare diseases
• A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon
• A Systematic Review on the Application of Virtual Reality for Muscular Dystrophy Rehabilitation: Motor Learning Benefits
• Acute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM
• Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model
• Adrenal suppression from vamorolone and prednisone in Duchenne muscular dystrophy: results from the phase 2b clinical trial
• Advancing bone health strategies in Duchenne muscular dystrophy: the role of BMD monitoring in transforming prognosis
• Adverse events associated with eteplirsen: A disproportionality analysis using the 2016-2023 FAERS data
• Airway Clearance in Neuromuscular Disease
• An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
• Boy Dosed with Pfizer's Duchenne Muscular Dystrophy Gene Therapy Dies a Year After Phase II Trial
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Cardiomyopathy in Duchenne Muscular Dystrophy and the Potential for Mitochondrial Therapeutics to Improve Treatment Response
• Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
• Chimeric Cell Therapy Transfers Healthy Donor Mitochondria in Duchenne Muscular Dystrophy
• Clinical Evidence Supporting FDA Approval of Gene and RNA Therapies for Rare Inherited Conditions
• Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy
• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
• Comprehensive review of adverse reactions and toxicology in ASO-based therapies for Duchenne Muscular Dystrophy: From FDA-approved drugs to peptide-conjugated ASO
• Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead
• Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
• Correction to: Evolving Role of Viltolarsen for Treatment of Duchenne Muscular Dystrophy
• Corticosteroids for the treatment of duchenne muscular dystrophy: a safety review
• Current Challenges of Using Patient-Level Claims and Electronic Health Record Data for the Longitudinal Evaluation of Duchenne Muscular Dystrophy Outcomes
• Current Concepts in the Orthopaedic Management of Duchenne Muscular Dystrophy
• Deletion of Dux ameliorates muscular dystrophy in mdx mice by attenuating oxidative stress via Nrf2
• Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping
• Digital health technologies to strengthen patient-centred outcome assessment in clinical trials in inflammatory arthritis
• Discriminatory properties of QALY-based CEA for patients with disabilities: A Duchenne muscular dystrophy case study
• Discriminatory Properties of Quality-Adjusted Life Year Based Cost-Effectiveness Analyses for Patients With Disabilities: A Duchenne Muscular Dystrophy Case Study
• Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature
• Duchenne muscular dystrophy skeletal muscle cells derived from human induced pluripotent stem cells recapitulate various calcium dysregulation pathways
• Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells
• Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review
• Effects of cycling training on balance and gait in children with Duchenne muscular dystrophy: A randomized controlled study
• Electrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies
• Engineered IscB-ωRNA system with expanded target range for base editing
• Equitable Access of Delandistrogene Moxeparvovec for Patients With Duchenne Muscular Dystrophy: A Call for Discussion
• Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
• Exploring lipin1 as a promising therapeutic target for the treatment of Duchenne muscular dystrophy
• Full-length dystrophin gene therapy for Duchenne muscular dystrophy
• Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48
• Glucocorticoid Deflazacort Normalizes the Ultrastructure of Skeletal Muscles and the State of the Colon Microbiota in Dystrophin-Deficient Mice
• Glutaminase-1 inhibition alleviates senescence of Wharton's jelly-derived mesenchymal stem cells via senolysis
• Have a little heart (or not): highly minimized skeletal muscle regulatory cassettes with low or no activity in heart
• Have a Little Heart (or Not): Highly Minimized Skeletal Muscle Regulatory Cassettes with Low or No Activity in the Heart
• Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy
• High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy
• Hydrogel biomaterials that stiffen and soften on demand reveal that skeletal muscle stem cells harbor a mechanical memory
• Impact of Disease-modifying Therapies on Respiratory Function in People with Neuromuscular Disorders
• Impaired endothelial function in duchenne muscular dystrophy-associated cardiomyopathy: Insights from hiPSC-derived endothelial cells
• In brief: Expanded indication for Elevidys
• In dystrophic <em>mdx</em> hindlimb muscles where fibrosis is limited versican haploinsufficiency transiently improves contractile function without reducing inflammation
• Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle
• Inhibition of Sesn2 has negative regulatory effects on the myogenic differentiation of C2C12 myoblasts
• Investigating therapeutic nonsense suppression in a neurofibromatosis mouse model
• Involvement of lysophosphatidic acid-LPA₁-YAP signaling in healthy and pathological FAPs migration
• Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications
• Large scale serum proteomics identifies proteins associated with performance decline and clinical milestones in Duchenne muscular dystrophy
• Levels of Exon-Skipping Are Not Artificially Overestimated Because of the Increased Affinity of Tricyclo-DNA-Modified Antisense Oligonucleotides to the Target <em>DMD</em> Exon
• Lower urinary tract symptoms in children with Duchenne muscular dystrophy: An evaluation in terms of functional level, posture, and muscle strength
• Magnetic-field-driven targeting of exosomes modulates immune and metabolic changes in dystrophic muscle
• Maintaining Physical Health in Individuals with Duchenne Muscular Dystrophy Through Telerehabilitation
• Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study
• Mitohormesis during advanced stages of Duchenne muscular dystrophy reveals a redox-sensitive creatine pathway that can be enhanced by the mitochondrial-targeting peptide SBT-20
• Molecular and Biochemical Therapeutic Strategies for Duchenne Muscular Dystrophy
• mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)
• Muscle Mass as a Biomarker for Health Status and Function in Pediatric Individuals with Neuromuscular Disabilities: A Systematic Review
• Muscle ultrasound in myopathies
• Nutritional Issues among Children with Duchenne Muscular Dystrophy-Incidence of Deficiency and Excess Body Mass
• Outcome Measures in Duchenne Muscular Dystrophy
• Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy
• Pfizer Weighs Next Steps after DMD Therapy Linked to Boy's Death Fails Phase III Trial
• Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins
• Prenatal risk assessment of Xp21.1 duplication involving the <em>DMD</em> gene by optical genome mapping
• Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal
• Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago
• Probing diffusion of water and metabolites to assess white matter microstructure in Duchenne muscular dystrophy
• Quantifying the insurance value for rare diseases: Duchenne muscular dystrophy
• Reading skills over time among children with Duchenne muscular dystrophy
• Recent Advances in Pre-Clinical Development of Adiponectin Receptor Agonist Therapies for Duchenne Muscular Dystrophy
• Respiratory performance in Duchenne muscular dystrophy: Clinical manifestations and lessons from animal models
• Sexual health and fertility in Duchenne muscular dystrophy-An exploratory study
• Shear modulus of lower limb muscles in school-aged children with mild hypotonia
• Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
• Split intein-mediated protein trans-splicing to express large dystrophins
• Strategies to improve safety profile of AAV vectors
• Synthetic datasets for open software development in rare disease research
• Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice
• The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data1
• The FDA approval of delandistrogene moxeparvovec-rokl for Duchenne muscular dystrophy: a critical examination of the evidence and regulatory process
• The Impact of Postural and Anthropometric Properties of Foot and Ankle on Physical Performance and Ambulation of Patients with Duchenne Muscular Dystrophy
• The struggle to belong: a qualitative exploration of challenges in social spaces faced by children with Duchenne muscular dystrophy attending neuromuscular disorders clinic
• The Usefulness of Determining Plasma and Tissue Concentrations of Phosphorodiamidate Morpholino Oligonucleotides to Estimate Their Efficacy in Duchenne Muscular Dystrophy Patients
• Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin-desmin double knockout (DKO) mouse
• Upregulation of utrophin improves the phenotype of Duchenne muscular dystrophy hiPSC-derived CMs
• What is in the Myopathy Literature?
• Whether tamoxifen is beneficial for cardiac dysfunction in Duchenne muscular dystrophy requires appropriately designed studies