Results 81 to 90 of about 59,298 (301)
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
core
Frontiers in Neuroscience, 2016 We report the methodology for the chronic delivery of an excitotoxin to the mouse spinal cord via surgically implanted osmotic mini-pumps. Previous studies have investigated the effect of chronic application of excitotoxins in the rat, however there has ...
Catherine A Blizzard +2 more
doaj +1 more source
Advanced Science, EarlyView.Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie +12 more
wiley +1 more source
Motor endplate disease affects neuromuscular junction maturation [PDF]
, 2012 International audiencePostnatal formation of the neuromuscular synapse requires complex interactions among nerve terminal, muscle fibres and terminal Schwann cells.
Vacher, Hélène +5 more
core +1 more source
The importance of early diagnosis and treatment in treatable neuromuscular diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Neuromuscular diseases represent a heterogeneous group of disorders involving peripheral nerves, neuromuscular junction (NMJ) and skeletal muscle. The most common symptoms are muscular weakness and amyotrophy in different body parts to varying degrees ...
Cheng ZHANG, Yu-ling ZHU
doaj +1 more source
AgriFood: Journal of Agricultural Products for Food, EarlyView.ABSTRACT Aging represents a critical risk factor for chronic diseases, driving an urgent demand for interventions promoting healthy longevity. This study establishes standardized guidelines for high‐throughput screening (HTS) of anti‐aging natural products using Drosophila melanogaster, leveraging its intestinal homeostasis as a biomarker.
Xiao Sheng, Lei Zhang
wiley +1 more source
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
RNA interference: a new tool to study gene functions in adult mammalian muscle "in vivo" [PDF]
, 2003 RNA interference (RNAi) is a powerful method for sequence-specific posttranscriptional gene silencing (PTGS), which allows rapid survey of gene functions using double-stranded RNA (dsRNA).
Kong, Xian Chu
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source