Results 131 to 140 of about 304,862 (304)
In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and ...
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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
An investigation into the effects of dystrophin on the lateral mobility of muscle membrane components. [PDF]
, 1999 Dystrophin is the product of the Duchenne Muscular Dystrophy gene locus, whose absence results in progressive skeletal muscle breakdown. Despite considerable work on the localisation of dystrophin and its associated complex, its role in muscle function ...
Dutton, A.L., Dutton, Anna Louise
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Hydroxamic Acids as HDAC Inhibitor Drug Leads for Malaria
Medicinal Research Reviews, EarlyView.ABSTRACT Malaria is a global health threat, with an estimated 282 million cases and 610,000 malaria‐associated deaths reported in 2024. Most mortality is due to infection by Plasmodium falciparum parasites, with the highest burden occurring in Sub‐Saharan Africa.
Wisam A. Dawood +7 more
wiley +1 more source
An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]
, 2002 Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
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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
Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review
Muscle &Nerve, EarlyView.ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han +3 more
wiley +1 more source
Muscle &Nerve, EarlyView.This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke +13 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Data on respiratory status and care in older adults with Duchenne muscular dystrophy (DMD) remain limited. This study aimed to characterize respiratory status, respiratory physiotherapy, and associated clinical features in patients with DMD aged ≥ 30 years.
Keisuke Yorimoto +7 more
wiley +1 more source
In vivo behaviour of human precursors into a dystrophic context [PDF]
, 2013 The Duchenne Muscular Dystrophy (DMD) is a lethal recessive X-linked disease caused by mutations in the dystrophin gene, no effective treatment is available up to date.
Vallese, Denis
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