(Q36774720)

16 August 2017

1 reference

title

The therapy of congenital myasthenic syndromes (English)

1 reference

16 August 2017

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Andrew G Engel

1

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16 August 2017

1 April 2007

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16 August 2017

1 reference

16 August 2017

4

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16 August 2017

2

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16 August 2017

252-257

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Efficacy of selective serotonin reuptake inhibitor treatment in children and adolescents

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Dok-7 mutations underlie a neuromuscular junction synaptopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Are the SSRIs and atypical antidepressants safe and effective for children and adolescents?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Safety factor at the neuromuscular junction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

The investigation of congenital myasthenic syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

3,4-Diaminopyridine in the treatment of congenital (hereditary) myasthenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Congenital endplate acetylcholinesterase deficiency

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

3,4-Diaminopyridine in the treatment of Lambert-Eaton myasthenic syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Amplification of neuromuscular transmission by postjunctional folds.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

MUSK, a new target for mutations causing congenital myasthenic syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1978489

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.001

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Lambert-Eaton myasthenic syndrome: electrodiagnostic findings and response to treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

3,4-diaminopyridine in childhood myasthenia: double-blind, placebo-controlled trial

1 reference

12 December 2020

The effects of 4-aminopyridine and tetraethylammonium on the kinetics of transmitter release at the mammalian neuromuscular synapse

1 reference

12 December 2020

Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade

1 reference

12 December 2020

3,4-Diaminopyridine in Lambert-Eaton myasthenic syndrome and myasthenia gravis

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

10.1016/J.NURT.2007.01.001

Identifiers

DOI

1 reference

Dimensions Publication ID

16 August 2017

1040074717

0 references

Fatcat ID

release_ibrcimwqhbd3ljgtikxftasjj4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ibrcimwqhbd3ljgtikxftasjj4

24 November 2022

mapped directly with Wikidata item

1 reference

16 August 2017

PubMed publication ID

17395135

1 reference