Congenital myasthenic syndromes (Q81651278)

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Voltage clamp analysis of acetylcholine produced end-plate current fluctuations at frog neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Acetylcholine receptor antibodies in juvenile myasthenia gravis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital Lambert-Eaton myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Efficacy of selective serotonin reuptake inhibitor treatment in children and adolescents

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Interactions of the rapsyn RING-H2 domain with dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Ionic and metabolic requirements for high-affinity choline uptake and acetylcholine synthesis in nerve terminals at a neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Dok-7 mutations underlie a neuromuscular junction synaptopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Axonal transport of synapsin I- and cholinergic synaptic vesicle-like material; further immunohistochemical evidence for transport of axonal cholinergic transmitter vesicles in motor neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Nicotine and carbamylcholine binding to nicotinic acetylcholine receptors as studied in AChBP crystal structures

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Crystal structure of acetylcholine-binding protein from Bulinus truncatus reveals the conserved structural scaffold and sites of variation in nicotinic acetylcholine receptors.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Role of presynaptic calcium ions and channels in synaptic facilitation and depression at the squid giant synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

MUSK, a new target for mutations causing congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Identification of tryptophan 55 as the primary site of [3H]nicotine photoincorporation in the gamma-subunit of the Torpedo nicotinic acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Estimates of probability of transmitter release at the mammalian neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial infantile myasthenia gravis: a cause of sudden death in young children

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Nicotinic receptors at the amino acid level

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Structure of the nicotinic receptor acetylcholine-binding site. Identification of acidic residues in the delta subunit within 0.9 nm of the 5 alpha subunit-binding

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quantal components of the end-plate potential

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Two heparin-binding domains are present on the collagenic tail of asymmetric acetylcholinesterase

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial infantile myasthenia: confusion in terminology

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Identification of pathogenic mutations in the human rapsyn gene

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Chapter 3 Assays for DNA Fragmentation, Endonucleases, and Intracellular pH and Ca2+ Associated with Apoptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A quantitative study of end-plate potentials in isolated human muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

CLINICAL AND ELECTROMYOGRAPHIC STUDIES IN A PATIENT WITH PRIMARY HYPOKALEMIC PERIODIC PARALYSIS

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndromes: progress over the past decade.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Current understanding of congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The entry of labelled calcium into the innervated region of the mouse diaphragm muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quantitation of junctional and extrajunctional acetylcholine receptors by electron microscope autoradiography after 125I-alpha-bungarotoxin binding at mouse neuromuscular junctions

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Distribution of Na+ channels and ankyrin in neuromuscular junctions is complementary to that of acetylcholine receptors and the 43 kd protein

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Synapse-specific and neuregulin-induced transcription require an ets site that binds GABPalpha/GABPbeta

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial limb-girdle myasthenia with tubular aggregates

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Blockage of muscle and neuronal nicotinic acetylcholine receptors by fluoxetine (Prozac)

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mapping the conformational wave of acetylcholine receptor channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Post-synaptic potentiation: interaction between quanta of acetylcholine at the skeletal neuromuscular synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The number of acetylcholine molecules in a quantum and the interaction between quanta at the subsynaptic membrane of the skeletal neuromuscular synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Evidence for recycling of synaptic vesicle membrane during transmitter release at the frog neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Structural changes after transmitter release at the frog neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Synaptic vesicle exocytosis captured by quick freezing and correlated with quantal transmitter release

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Internal and external differentiations of the postsynaptic membrane at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Strategy for analysing the co-operativity of intramolecular interactions in peptides and proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

On the mechanism by which calcium and magnesium affect the release of transmitter by nerve impulses.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital endplate acetylcholinesterase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Deficiency of acetylcholine receptors in a case of end-plate acetylcholinesterase deficiency: A histochemical investigation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The effects of nerve stimulation and hemicholinium on synaptic vesicles at the mammalian euromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Tetrodotoxin-resistant electric activity in presynaptic terminals.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The statistical nature of the acetylcholine potential and its molecular components

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The binding of acetylcholine to receptors and its removal from the synaptic cleft

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A study of the desensitization produced by acetylcholine at the motor end-plate

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

On the factors which determine the amplitude of the miniature end-plate potential

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Synaptic vesicles in electromotoneurones. I. Axonal transport, site of transmitter uptake and processing of a core proteoglycan during maturation.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The number of transmitter molecules in a quantum: an estimate from iontophoretic application of acetylcholine at the neuromuscular synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Quantal components of end-plate potentials in the myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Principal pathway coupling agonist binding to channel gating in nicotinic receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Calcium role in depolarization-secretion coupling: an aequorin study in squid giant synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

ATP-dependent directional movement of rat synaptic vesicles injected into the presynaptic terminal of squid giant synapse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Treatment of Lambert-Eaton syndrome: 3,4-diaminopyridine and pyridostigmine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A study of desensitization of acetylcholine receptors using nerve-released transmitter in the frog

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The intracellular domain of the nicotinic acetylcholine receptor alpha subunit mediates its coclustering with rapsyn

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Interaction of the 43 kd postsynaptic protein with all subunits of the muscle nicotinic acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The myristoylated protein rapsyn is cotargeted with the nicotinic acetylcholine receptor to the postsynaptic membrane via the exocytic pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Current concepts of pre- and post-junctional mechanisms in neuromuscular transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Amplification of neuromuscular transmission by postjunctional folds

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Analysis of the organophosphate-induced electromyographic response to repetitive nerve stimulation: paradoxical response to edrophonium and D-tubocurarine

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Presynaptic congenital myasthenic syndrome due to quantal release deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Molecular and cellular biology of cholinesterases

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The polymorphism of acetylcholinesterase: post-translational processing, quaternary associations and localization

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Distribution of acetylcholine receptors at frog neuromuscular junctions with a discussion of some physiological implications

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The end of the (cell) line: methods for the study of apoptosis in vitro.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Cholinesterase is associated with the basal lamina at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The bioenergetics of neurotransmitter release

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial limb-girdle myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Novel congenital myasthenic syndromes associated with defects in quantal release

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Structural dynamics of the M4 transmembrane segment during acetylcholine receptor gating

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Plasticity of acetylcholine receptor gating motions via rate-energy relationships

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Nicotinic acetylcholine receptor at 4.6 A resolution: transverse tunnels in the channel wall

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Structure and gating mechanism of the acetylcholine receptor pore

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

ON THE NATURE OF ALLOSTERIC TRANSITIONS: A PLAUSIBLE MODEL

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Chronic limb-girdle myasthenia gravis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Identification and characterization of the high-affinity choline transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Vesicular neurotransmitter transport and the presynaptic regulation of quantal size

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Familial Infantile Myasthenia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Strategic location of calcium channels at transmitter release sites of frog neuromuscular synapses

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Sodium channel slow inactivation and the distribution of sodium channels on skeletal muscle fibres enable the performance properties of different skeletal muscle fibre types

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Acetylcholinesterase in the fast extraocular muscle of the mouse by light and electron microscope autoradiography

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Implication of a multisubunit Ets-related transcription factor in synaptic expression of the nicotinic acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Recent advances in Cys-loop receptor structure and function

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Lysine scanning mutagenesis delineates structural model of the nicotinic receptor ligand binding domain

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Unusual features in a boy with the rapsyn N88K mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Miniature endplate current rise times less than 100 microseconds from improved dual recordings can be modeled with passive acetylcholine diffusion from a synaptic vesicle

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The temperature sensitivity of miniature endplate currents is mostly governed by channel gating: evidence from optimized recordings and Monte Carlo simulations

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Proteins of synaptic vesicles involved in exocytosis and membrane recycling

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Effects of calcium on the conductance change of the end-plate membrane during the action of transmitter

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Presynaptic localization of omega-conotoxin-sensitive calcium channels at the frog neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Structural determinants of selective alpha-conotoxin binding to a nicotinic acetylcholine receptor homolog AChBP.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Probing the Structure of the Nicotinic Acetylcholine Receptor with 4-Benzoylbenzoylcholine, a Novel Photoaffinity Competitive Antagonist

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Estimates of statistical release parameters from crayfish and frog neuromuscular junctions

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Neuromuscular synaptogenesis: clustering of acetylcholine receptors revisited

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Safety factor at the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Thymectomy for myasthenia gravis in children

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Phi-value analysis of a linear, sequential reaction mechanism: theory and application to ion channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Changes in the statistics of transmitter release during facilitation

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Calcium, free radicals, and excitotoxic neuronal death in primary cell culture

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021

Transmitter release induced by injection of calcium ions into nerve terminals.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901510-2

7 January 2021