Myasthenic syndrome caused by mutation of the SCN4A sodium channel (Q35163768)

6 August 2017

title

Myasthenic syndrome caused by mutation of the SCN4A sodium channel (English)

1 reference

Sodium voltage-gated channel alpha subunit 4

6 August 2017

main subject

1 reference

regulation of skeletal muscle contraction by action potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Kinji Ohno

3

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author name string

Akira Tsujino

1

1 reference

6 August 2017

Chantal Maertens

2

1 reference

6 August 2017

Xin-Ming Shen

4

1 reference

6 August 2017

Taku Fukuda

5

1 reference

6 August 2017

C Michael Harper

6

1 reference

6 August 2017

Stephen C Cannon

7

1 reference

6 August 2017

Andrew G Engel

8

1 reference

6 August 2017

language of work or name

English

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publication date

23 May 2003

1 reference

Proceedings of the National Academy of Sciences of the United States of America

6 August 2017

published in

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6 August 2017

volume

100

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6 August 2017

issue

12

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6 August 2017

page(s)

7377-7382

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An expanding view for the molecular basis of familial periodic paralysis

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Extra-long first-strand cDNA synthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Safety factor at the neuromuscular junction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Voltage-gated ion channels and hereditary disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Genomic organization of the human skeletal muscle sodium channel gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

The genomic structure of the human skeletal muscle sodium channel gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

Amplification of neuromuscular transmission by postjunctional folds.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

The spectrum of congenital myasthenic syndromes.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165883

A reinterpretation of mammalian sodium channel gating based on single channel recording

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1230273100

Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model

21 January 2018

1 reference

12 December 2020

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

12 December 2020

Congenital myasthenic syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1230273100

1 reference

release_zmdvpyz3tfc7jihl3rplibstgm

6 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zmdvpyz3tfc7jihl3rplibstgm

24 November 2022

mapped directly with Wikidata item

PMC publication ID

165883

1 reference

6 August 2017

1 reference