Disease: Dystrophinopathy
- <em>DMD</em> deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
- 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity
- A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies
- A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data
- A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon
- A novel deep intronic variant introduce <em>dystrophin</em> pseudoexon in Becker muscular dystrophy: A case report
- A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
- Advances in Dystrophinopathy Diagnosis and Therapy
- Arrhythmias and cardiac MRI associations in patients with established cardiac dystrophinopathy
- Assessment of Extracellular Volume Fraction in Becker Muscular Dystrophy by Using MR Fingerprinting
- Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings
- Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study
- Case report: a novel deep intronic splice-altering variant in <em>DMD</em> as a cause of Becker muscular dystrophy
- Case report: A rare case of left ventricular noncompaction in two Chinese siblings with becker muscular dystrophy caused by deletion of exons 10 to 12 in the <em>DMD</em> gene
- CB2 Receptor as Emerging Anti-Inflammatory Target in Duchenne Muscular Dystrophy
- Cellular pathogenesis of Duchenne muscular dystrophy: progressive myofibre degeneration, chronic inflammation, reactive myofibrosis and satellite cell dysfunction
- Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study
- Chinese guidelines on the diagnosis of dystrophinopathy
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
- Clinical Scoring Tool for Diagnosis of Dystrophinopathies: Can the Tool Finish the Job?
- Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
- Combined General and Regional Anesthesia for a Patient With Duchenne Muscle Dystrophy With an Implanted Left Ventricular Assisted Device Undergoing Orthopedic Surgery
- Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing
- Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
- Design requirements of upper extremity supports for daily use in Duchenne muscular dystrophy with severe muscle weakness
- Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era
- Diversity of mutations in the <em>dystrophin</em> gene and details of muscular lesions in porcine dystrophinopathies
- Diversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies
- DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
- DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease
- Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
- Dystrophic cardiomyopathy: role of the cardiac myofilaments
- Dystrophin genetic variants and autism
- Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis
- Dystrophinopathies
- Dystrophinopathies
- Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy
- Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
- Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies
- Epilepsy in Duchenne and Becker muscular dystrophies
- Epilepsy in dystrophinopathies: A retrospective cohort and review of the literature
- Erratum to Conway et al. "A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)". Muscle and Nerve. February 2022. Volum
- Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
- Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a Border Collie dog
- Expert consensus on the genetic counseling for Dystrophinopathies
- Expert consensus on the genetic diagnosis for Dystrophinopathies
- Extracellular Matrix Proteomics: The <em>mdx-4cv</em> Mouse Diaphragm as a Surrogate for Studying Myofibrosis in Dystrophinopathy
- Extracellular Matrix Proteomics: The mdx-4cv Mouse Diaphragm as a Surrogate for Studying Myofibrosis in Dystrophinopathy
- Females with dystrophinopathy: A neglected patient population
- Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48
- Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors
- Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
- Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
- Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids
- Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy
- Heart in Disguise: Unmasking a Novel Gene Deletion in Dilated Cardiomyopathy
- Higher Prevalence of Nonsense Pathogenic <em>DMD</em> Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
- Histological Methods to Assess Skeletal Muscle Degeneration and Regeneration in Duchenne Muscular Dystrophy
- How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?
- Identification of novel variations in three cases with rare inherited neuromuscular disorder
- Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle
- Intelligence quotient-genotype association in dystrophinopathies: A systematic review and meta-analysis
- Interleukin 4 improved adipose-derived stem cells engraftment via interacting with fibro/adipogenic progenitors in dystrophic mice
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
- Ivabradine acutely improves cardiac Ca handling and function in a rat model of Duchenne muscular dystrophy
- Long-term outcomes for females with early-onset dystrophinopathy
- Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
- Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy
- Mass spectrometry-based proteomic characterization of the middle-aged mouse brain for animal model research of neuromuscular diseases
- Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India
- Networking to Optimize <em>Dmd</em> exon 53 Skipping in the Brain of <em>mdx52</em> Mouse Model
- On genotype-phenotype relationship of dystrophinopathies among Iranian population
- Phenotypic features of genetically modified <em>DMD</em>-X<sup>KO</sup>X<sup>WT</sup> pigs
- Phosphorylation alters the mechanical stiffness of a model fragment of the dystrophin homologue utrophin
- Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago
- Primary mouse myoblast metabotropic purinoceptor profiles and calcium signalling differ with their muscle origin and are altered in mdx dystrophinopathy
- Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy
- Progress in muscle research through the international congress of neuromuscular diseases (ICNMD): a narrative review
- Protection of dystrophic muscle cells using Idebenone correlates with the interplay between calcium, oxidative stress and inflammation
- Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study
- Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast <em>DMD</em> variant heterogeneity
- Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast heterogeneous DMD gene variants
- Self- and Caregiver-Reported Participation, Quality of Life, and Related Mood and Behavior Challenges in People Living With Dystrophinopathies
- Social cognition in DMD and BMD dystrophinopathies: A cross-sectional preliminary study
- Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
- Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
- Targeted regulation of TAK1 counteracts dystrophinopathy in a DMD mouse model
- The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data1
- The Dystrophinopathies
- The P2X7 purinoceptor in pathogenesis and treatment of dystrophino- and sarcoglycanopathies
- The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies
- The role of sleep in neuromuscular disorders
- The unconditioned fear response in vertebrates deficient in dystrophin
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting
- Towards a better detection of intronic variants and other complex splicing abnormalities in dystrophinopathies
- Transcriptome and Genome Analysis Uncovers a <em>DMD</em> Structural Variant: A Case Report
- Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study
- Whole-Genome Sequencing Identified New Structural Variations in the <em>DMD</em> Gene That Cause Duchenne Muscular Dystrophy in Two Girls