Results 101 to 110 of about 75,574 (228)

Low‐dose lithium supplementation promotes musculoskeletal and metabolic health in ovariectomized female mice

The Journal of Physiology, EarlyView.
Abstract figure legend Low‐dose lithium supplementation in ovariectomized mice enhances skeletal muscle contractility (isometric force and fatigue resistance), SERCA function and promotes favourable transcriptional reprogramming, while increasing bone density and modestly improving insulin sensitivity.
Bianca M. Marcella, Jessica L. Braun, Amélie A.T. Marais, Briana L. Hockey, Mia S. Geromella, Ryan W. Baranowski, Rene Vandenboom, Rebecca E.K. MacPherson, Val A. Fajardo   +8 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP^® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

International Journal of Neonatal Screening, 2019
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the
Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari, Teemu Korpimäki   +11 more
doaj   +1 more source

Modeling, Evaluation, and In Vivo Estimation of Muscle Cell Diameter With the Random Permeable Barrier Model: Correlation With Subject Characteristics and Isometric Torque

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
We evaluated the random permeable barrier model (RPBM) through simulations, model fitting, and in vivo analysis of 100 healthy adults. Simulations showed that stable estimates of muscle cell diameter and membrane permeability require constraining τ and fixing D0 at ~0.9 of axial diffusivity at long diffusion times.
Martijn Froeling, Roosmarijn Brenninkmeijer, Danny R. van der Woude, Bart Bartels, Linda Heskamp   +4 more
wiley   +1 more source

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

Российский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva, O. V. Babicheva, K. O. Barbuhatti   +2 more
doaj   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

Duchenne muscular dystrophy - disease characterization and emergent genetic therapy - literature review

Quality in Sport
Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and ...
Anna Teresa Michalska, Michał Świda, Cezary Kubuj, Grzegorz Adaśko, Urszula Mazur, Jakub Bazarewicz, Marcin Siwik, Daniel Dmowski, Paulina Ogonowska, Julia Waszak   +9 more
doaj   +1 more source

Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights

Developmental Medicine &Child Neurology, EarlyView.
Claudia Brogna, Eugenio Mercuri
wiley   +1 more source

Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy

Case Reports in Critical Care, 2018
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy, Mouhammad Yabrodi, Riad Lutfi   +2 more
doaj   +1 more source