Results 61 to 70 of about 39,769 (244)
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Proteome‐Wide Analysis of Human Deletions
Proteins: Structure, Function, and Bioinformatics, EarlyView.ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang +2 more
wiley +1 more source
The Pan African Medical Journal, 2014 Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens.
Kelechi Kenneth Odinaka +1 more
doaj +1 more source
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
Small, EarlyView.The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava +71 more
wiley +1 more source
International Journal of Neonatal Screening, 2018 Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear +9 more
doaj +1 more source
BMC Surgery, 2004 Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan +4 more
doaj
Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy
Pediatric Neurology Briefs, 2007 The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and
J Gordon Millichap
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda +46 more
wiley +1 more source
Social Policy &Administration, EarlyView.ABSTRACT Research on social policy and solidarity often highlights disability as a paradigmatic case of a ‘deserving’ group that warrants social support. However, this hierarchical view of solidarity frequently ignores the role of solidarity in the lived experiences and everyday practices of disabled people themselves.
Roni Holler, Efrat Keidar, Sagit Mor
wiley +1 more source