Results 81 to 90 of about 75,574 (228)
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 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
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
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
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
Long-term Evaluation of AAV-CRISPR Genome Editing for Duchenne Muscular Dystrophy
Nature Medicine, 2018 Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of Duchenne muscular dystrophy1–6, however, the long-term persistence
Christopher E. Nelson +11 more
semanticscholar +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
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
Sperm Sexing in Selected Animals and Humans: Methods, Applications, and Future Prospects
Andrology, EarlyView.ABSTRACT Background Sperm sexing is a technique that enables the selection of offspring sex by sorting spermatozoa based on their sex chromosomes. This technology has gained increasing attention due to its potential applications in both animal breeding and human‐assisted reproduction.
Domrazek Kinga, Jurka Piotr
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