Results 111 to 120 of about 662,195 (273)

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. [PDF]

, 2020
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic.
Anderson, Kendall J, Clark, Leigh Anne, Evans, Jacquelyn M, Guo, Ling T, Knipe, Marguerite, Shelton, G Diane, Sturges, Beverly K, Tsai, Kate L, Vernau, Karen M, Williams, D Colette, Winger, Kathryn, Zwueste, Danielle M   +11 more
core  

The Neuromuscular Junction: Aging at the Crossroad between Nerves and Muscle

Frontiers in Aging Neuroscience, 2014
Aging is associated with a progressive loss of muscle mass and strength and a decline in neurophysiological functions. Age-related neuromuscular junction (NMJ) plays a key role in musculoskeletal impairment that occurs with aging.
M. Gonzalez-Freire, R. de Cabo, S. Studenski, L. Ferrucci   +3 more
semanticscholar   +1 more source

Modulation of Microglia by Voluntary Exercise or CSF1R Inhibition Prevents Age-Related Loss of Functional Motor Units

Cell Reports, 2019
Summary: Age-related loss of skeletal muscle innervation by motor neurons leads to impaired neuromuscular function and is a well-established clinical phenomenon. However, the underlying pathogenesis remains unclear. Studying mice, we find that the number
Elisa Giorgetti, Moh Panesar, Yunyu Zhang, Stefanie Joller, Marie Ronco, Michael Obrecht, Christian Lambert, Nathalie Accart, Nicolau Beckmann, Arno Doelemeyer, Ludovic Perrot, Isabelle Fruh, Matthias Mueller, Eliane Pierrel, Serge Summermatter, Michael Bidinosti, Derya R. Shimshek, Sophie Brachat, Mark Nash   +18 more
doaj  

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease

Journal of Tissue Engineering
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet.
Camille Scherrer, Camille Loret, Nicolas Védrenne, Colman Buckley, Anne-Sophie Lia, Vincent Kermene, Franck Sturtz, Frédéric Favreau, Amandine Rovini, Pierre-Antoine Faye   +9 more
doaj   +1 more source

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review

Taiwanese Journal of Obstetrics & Gynecology, 2012
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma ...
Chih-Ping Chen
doaj   +1 more source

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.

Journal of Clinical Investigation, 2014
Spinal muscular atrophy is a common motor neuron disease caused by low survival motoneuron (SMN), a key protein in the proper splicing of genes. Restoring the protein is therefore a promising therapeutic strategy. Implementation of this strategy, however,
S. Kariya, T. Obis, C. Garone, T. Akay, F. Sera, S. Iwata, S. Homma, U. Monani   +7 more
semanticscholar   +1 more source

LRP4 Is Critical for Neuromuscular Junction Maintenance

Journal of Neuroscience, 2014
The neuromuscular junction (NMJ) is a synapse between motor neurons and skeletal muscle fibers, and is critical for control of muscle contraction. Its formation requires neuronal agrin that acts by binding to LRP4 to stimulate MuSK.
Arnab Barik, Yisheng Lu, Anupama Sathyamurthy, Andrew Bowman, Chengyong Shen, Lei Li, W. Xiong, L. Mei   +7 more
semanticscholar   +1 more source

Localization of active spots within the neuromuscular junction of the frog [PDF]

, 1956
J. del Castillo, B. Katz
openalex   +1 more source

Acetylcholine receptors in regenerating muscle accumulate at original synaptic sites in the absence of the nerve. [PDF]

, 1979
We examined the role of nerve terminals in organizing acetylcholine receptors on regenerating skeletal-muscle fibers. When muscle fibers are damaged, they degenerate and are phagocytized, but their basal lamina sheaths survive.
Burden, SJ, McMahan, UJ, Sargent, PB
core  

Morphological and functional remodeling of the neuromuscular junction by skeletal muscle PGC-1α

Nature Communications, 2014
The neuromuscular junction (NMJ) exhibits high morphological and functional plasticity. In the mature muscle, the relative levels of physical activity are the major determinants of NMJ function.
A. Arnold, Jonathan F. Gill, M. Christe, R. Ruiz, Shawn McGuirk, J. St-Pierre, L. Tabares, C. Handschin   +7 more
semanticscholar   +1 more source