(Q28238609)

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

scientific article (publication date: May 1997)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9158150%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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

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3 November 2019

congenital disorder

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3 November 2019

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P A Quiram

2

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3 November 2019

M Milone

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3 November 2019

H L Wang

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3 November 2019

M C Harper

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3 November 2019

J N Pruitt

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3 November 2019

J M Brengman

7

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3 November 2019

L Pao

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3 November 2019

K H Fischbeck

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3 November 2019

T O Crawford

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3 November 2019

S M Sine

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3 November 2019

A G Engel

12

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3 November 2019

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1 May 1997

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3 November 2019

Human Molecular Genetics

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3 November 2019

6

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3 November 2019

5

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3 November 2019

753-766

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3 November 2019

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Congenital endplate acetylcholinesterase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

The Investigation of Congenital Myasthenic Syndromesa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Synaptic structure and development: the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Acetylcholine receptors and the cytoskeletal connection

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Developmental regulation of nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

A quantitative description of end-plate currents

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Fast events in single-channel currents activated by acetylcholine and its analogues at the frog muscle end-plate

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Activation of Torpedo acetylcholine receptors expressed in mouse fibroblasts. Single channel current kinetics reveal distinct agonist binding affinities

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Estimating single-channel kinetic parameters from idealized patch-clamp data containing missed events

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Topogenic signals in integral membrane proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Data transformations for improved display and fitting of single-channel dwell time histograms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

A suggested nomenclature for designating mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

On the stochastic properties of single ion channels

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Single acetylcholine-activated channels show burst-kinetics in presence of desensitizing concentrations of agonist

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.753

21 January 2018

Identifiers

10.1093/HMG/6.5.753

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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3 November 2019

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9158150%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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