Results 91 to 100 of about 23,636 (243)
Dietary nitrate supplementation mitigates age‐related changes at the neuromuscular junction in mice
The Journal of Physiology, EarlyView.Abstract figure legend Ageing is associated with a decline in muscle mass and strength, namely sarcopenia, significantly impacting the quality of life in older individuals. Different strategies are being explored to counteract these detrimental effects. In the present study, we investigated a non‐invasive nutritional approach: the impact of 2 months of
Maira Rossi +9 more
wiley +1 more source
Utrophin Compensates dystrophin Loss during Mouse Spermatogenesis
Scientific Reports, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder resulting from mutations in the dystrophin gene. The mdx/utrn −/− mouse, lacking in both dystrophin and its autosomal homologue utrophin, is commonly used to model the clinical symptoms of
Hung-Chih Chen +6 more
doaj +1 more source
Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Myoclonus‐dystonia syndrome (MDS, OMIM #159900) is an autosomal‐dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities.
Malak Ali Alghamdi +10 more
wiley +1 more source
BioSpring: An elastic network framework for interactive exploration of macromolecular mechanics
Protein Science, Volume 34, Issue 5, May 2025.Abstract BioSpring is an innovative tool for interactive molecular modeling and simulation, designed to explore the dynamics of biological structures in real time. Using an augmented elastic network model, the BioSpring framework enables researchers to intuitively examine complex biomolecules, and it combines real‐time feedback with the user's ...
Benoist Laurent +5 more
wiley +1 more source
The importance of better natural history studies for Duchenne muscular dystrophy
Developmental Medicine &Child Neurology, EarlyView.
David J. Birnkrant
wiley +1 more source
Pharmaceutical Statistics, Volume 24, Issue 3, May/June 2025.ABSTRACT Patient enrollment can be a substantial burden in rare disease trials. One potential approach is to incorporate external control (EC) into concurrent randomized trials, or EC borrowing, to reduce such burden. Extensive research has been conducted to explore statistical methodologies.
Ping Gao, Xiao Ni, Jing Li, Rachel Chu
wiley +1 more source
The FASEB Journal, Volume 39, Issue 8, 30 April 2025.Skeletal muscle expression of the nuclear receptor NOR‐1 is highly responsive to exercise but diminished in aged mice. The overexpression of NOR‐1 results in a PERM1‐dependent enhancement of myoglobin alongside enhanced gene expression of several regulators of oxidative metabolism and markers of elevated autophagy.
Hector G. Paez +4 more
wiley +1 more source
Nepal Journal of Biotechnology, 2016 Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness.
Kushal Shrestha +5 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2022 Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of a ...
Nicolas Wein +12 more
doaj
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. [PDF]
, 1991 T J Byers +2 more
openalex +1 more source