[HTML][HTML] NMJ-related diseases beyond the congenital myasthenic syndromes

A Navarro-Martínez, C Vicente-García… - Frontiers in Cell and …, 2023 - ncbi.nlm.nih.gov
Neuromuscular junctions (NMJs) are a special type of chemical synapse that transmits
electrical stimuli from motor neurons (MNs) to their innervating skeletal muscle to induce a …

[HTML][HTML] The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis

PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

Animal models of the neuromuscular junction, vitally informative for understanding function and the molecular mechanisms of congenital myasthenic syndromes

RG Webster - International journal of molecular sciences, 2018 - mdpi.com
The neuromuscular junction is the point of contact between motor nerve and skeletal
muscle, its vital role in muscle function is reliant on the precise location and function of many …

Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction

L Shi, AKY Fu, NY Ip - Trends in neurosciences, 2012 - cell.com
The vertebrate neuromuscular junction (NMJ), a peripheral synapse formed between
motoneuron and skeletal muscle, is characterized by a protracted postnatal period of …

The role of skeletal muscle in neuromuscular diseases: From cellular and molecular players to therapeutic interventions

G Dobrowolny, BM Scicchitano - Cells, 2022 - mdpi.com
Genetic and acquired defects of lower motor neurons, peripheral nerves, or skeletal muscle
are responsible for several neuromuscular disorders. The neuromuscular junction (NMJ) …

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

JS Müller, V Mihaylova, A Abicht… - Expert reviews in …, 2007 - cambridge.org
The neuromuscular junction (NMJ) is a complex structure that efficiently communicates the
electrical impulse from the motor neuron to the skeletal muscle to induce muscle contraction …

In vitro models of neuromuscular junctions and their potential for novel drug discovery and development

OF Vila, Y Qu, G Vunjak-Novakovic - Expert opinion on drug …, 2020 - Taylor & Francis
ABSTRACT Introduction: Neuromuscular Junctions (NMJs) are the synapses between motor
neurons and skeletal muscle fibers, and they are responsible for voluntary motor function …

The increasing genetic and phenotypical diversity of congenital myasthenic syndromes

G McMacken, A Abicht, T Evangelista… - …, 2017 - thieme-connect.com
The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result
in an increasing range of phenotypes, but which are all due to inherited defects at the …

Neuromuscular junction formation, aging, and disorders

L Li, WC Xiong, L Mei - Annual review of physiology, 2018 - annualreviews.org
Synapses, the fundamental unit in neuronal circuits, are critical for learning and memory,
perception, thinking, and reaction. The neuromuscular junction (NMJ) is a synapse formed …

Signaling and aging at the neuromuscular synapse: lessons learnt from neuromuscular diseases

AR Punga, MA Ruegg - Current opinion in pharmacology, 2012 - Elsevier
The neuromuscular junction (NMJ) is a specialized synapse between motor neurons and
skeletal muscle with a complex signaling network that assures highly reliable …