Results 31 to 40 of about 6,556 (183)
Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective? [PDF]
PLoS ONE, 2013 Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNaV1.4F1705I) has
Subrata Biswas +3 more
doaj +1 more source
On the importance of including both sexes in animal studies – insights from home‐cage monitoring
Biological Reviews, EarlyView.ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater +12 more
wiley +1 more source
British Journal of Anaesthesia, 1994 The myotonias are a group of uncommon disorders. All display a characteristic electromyographic picture and some of the disorders have systemic manifestations. They are important to the anaesthetist for several reasons. Anaesthetic and surgical interventions may induce myotonia which, when initiated, may complicate the course of anaesthesia and be ...
S H, Russell, N P, Hirsch
openaire +2 more sources
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang +13 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2019 Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessive disease with generalized myotonic myopathy and skeletal dysplasia. A mutation in the HSPG2 gene occurs. Approximately 150 cases have been reported in literature. A 4-year-
Gürkan Gürbüz, Hatice Mutlu Albayrak
doaj +1 more source
Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine
Medicinal Research Reviews, EarlyView.ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli +5 more
wiley +1 more source
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source