(Q47827120)

6 February 2018

review article

1 reference

title

Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. (English)

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6 February 2018

author

Kinji Ohno

2

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6 February 2018

author name string

A G Engel

1

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6 February 2018

M Milone

3

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6 February 2018

S M Sine

4

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6 February 2018

language of work or name

English

0 references

publication date

1 May 1998

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6 February 2018

Annals of the New York Academy of Sciences

published in

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6 February 2018

volume

841

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6 February 2018

page(s)

140-156

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6 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Maintenance of acetylcholine receptor number by neuregulins at the neuromuscular junction in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

ARIA/HRG regulates AChR epsilon subunit gene expression at the neuromuscular synapse via activation of phosphatidylinositol 3-kinase and Ras/MAPK pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Agrin acts via a MuSK receptor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Subtle neuromuscular defects in utrophin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Analysis of anticholinesterase-induced neuromuscular transmission failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Calcium permeability increase of endplate channels in rat muscle during postnatal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Synaptic structure and development: the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Synapse-Associated Expression of an Acetylcholine Receptor-Inducing Protein, ARIA/Heregulin, and Its Putative Receptors, ErbB2 and ErbB3, in Developing Mammalian Muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Expression of subunit-omitted mouse nicotinic acetylcholine receptors in Xenopus laevis oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10921.X

10.1111/J.1749-6632.1998.TB10921.X

21 January 2018

Identifiers

DOI

1 reference

6 February 2018

PubMed ID

9668233

1 reference

6 February 2018