Results 101 to 110 of about 68,781 (284)
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]
, 2018 Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi +6 more
core +1 more source
Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components
Small Methods, EarlyView.The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu +6 more
wiley +1 more source
A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
International Journal of Neonatal Screening, 2017 Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy +4 more
doaj +1 more source
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley +1 more source
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
core +3 more sources
Role of NRP1/HDAC4/CREB/RIPK1 Axis in SARS‐CoV2 S1 Spike Subunit‐Induced Neuronal Toxicity
FASEB BioAdvances, EarlyView.Extracellular SARS‐CoV2 Spike‐S1 protein via NRP1 internalizes in the cytosol of SH‐SY5Y cells. Once inside, it upregulates the epigenetic eraser HDAC4, which binds transcriptional factor CREB, causes RIPK1 up‐regulation, and therefore necroptotic cell death.
Luca Sanguigno +8 more
wiley +1 more source
Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome [PDF]
, 1965 Pierre Ferrier +2 more
openalex +1 more source
Nanotherapy for Duchenne muscular dystrophy
WIREs Nanomedicine and Nanobiotechnology, 2017 Duchenne muscular dystrophy (DMD) is a lethal X‐linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology‐based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the ...
Dongsheng Duan +4 more
openaire +4 more sources
Transcriptional Diversity in Response to Aging Across Skeletal Muscles
Aging Cell, EarlyView.We constructed transcriptional maps of 11 skeletal muscles from young and old mice, revealing age‐related tissue‐specific gene expression changes. Our findings highlight cellular composition shifts and new cell states in aged muscles, providing insights into muscle aging and potential therapeutic targets for age‐related muscle disorders. ABSTRACT Aging
Can Liu +15 more
wiley +1 more source