Results 81 to 90 of about 78,813 (265)

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

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, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Navigating the Prescription Drug Information System

Clinical Pharmacology &Therapeutics, EarlyView.
Information on new prescription drugs is increasingly complex and fragmented, posing challenges for healthcare professionals, patients, and payers. Clinicians require concise, actionable guidance to support prescribing decisions, while patients seek to balance benefits and harms when making decisions aligned with their treatment goals.
Irina V. Wang, Courtney Davis, Robin Forrest, Avi Cherla, Maximilian Siebert, Janice Cowden, Sophia Walker, Tamar Krishnamurti, Florence T. Bourgeois, Steven Woloshin, Anita K. Wagner, Huseyin Naci   +11 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Dietary management and feeding considerations of pediatric aerodigestive and upper gastrointestinal motility disorders: A position paper by the NASPGHAN Neurogastroenterology and Motility Committee

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective Pediatric aerodigestive and upper gastrointestinal (UGI) motility disorders are common and may be associated with compromised nutritional status and decreased quality of life. Traditional dietary recommendations for aerodigestive and UGI motility disorders have been rudimentary and largely based upon experience and common sense ...
Khalil El‐Chammas, Kirsten B. Jones, Joan Arvedson, Mary Boruta, Erick Toro‐Monjaraz, Anita Sicolo, Anil Darbari, Rachel Rosen, Julie Khlevner   +8 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Strategy for drug repurposing in fibroadipogenic replacement during muscle wasting: application to duchenne muscular dystrophy

Frontiers in Cell and Developmental Biology
BackgroundUnderstanding the cell functionality during disease progression or drugs’ mechanism are major challenges for precision medicine. Predictive models describing biological phenotypes can be challenging to obtain, particularly in scenarios where ...
Izzy Matthews, Izzy Matthews, Priyanka Mehra, Xavier Suárez-Calvet, Patricia Piñol-Jurado, Dan Cox, Vellia Justian, Ana Carrasco-Rozas, Zoe Laidler, Andrew Bowey, Paul Rushton, Susana López-Fernández, Jordi Díaz-Manera, Esther Fernández-Simón   +13 more
doaj   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials

Research Involvement and Engagement
Background Engaging individuals living with disease in drug development and regulatory processes leads to more thoughtful and sensitive trial designs, drives more informative and meaningful outcomes from clinical studies, and builds trust between the ...
Patricia Furlong, Ashish Dugar, Molly White   +2 more
doaj   +1 more source