Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders
caused by abnormal signal transmission at the motor endplate, a special synaptic contact …

The conversion of acetylcholine binding into ion conduction across the membrane is
becoming more clearly understood in terms of the structure of the receptor and its transitions …

The synapse is a localized neurohumoral contact between a neuron and an effector cell and
may be considered the quantum of fast intercellular communication. Analogously, the …

We previously identified lynx1 as a neuronal membrane molecule related to snake α-
neurotoxins able to modulate nAChRs. Here, we show that lynx1 colocalizes with nAChRs …

Although GABA activates synaptic (αβγ) GABAA receptors with high efficacy, partial agonist
activation of αβγ isoforms and GABA activation of the primary extrasynaptic (αβδ) GABAA …

The analysis of congenital myasthenic syndromes (CMSs) has disclosed a diverse array of
molecular targets at the motor endplate and has delineated their contribution to synaptic …

Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of
molecular targets at the motor endplate. Clinical, electrophysiologic and morphologic …

The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the
safety margin of neuromuscular transmission is compromised by one or more specific …

Nicotinic acetylcholine receptors represent a family of ligand-gated ion channels that are
widely expressed in the central and peripheral nervous systems. To date, 16 genes …