(Q37196071)

18 August 2017

1 reference

title

Further observations in congenital myasthenic syndromes (English)

1 reference

18 August 2017

0 references

Andrew G Engel

1

1 reference

18 August 2017

Xin-Ming Shen

series ordinal

2

1 reference

18 August 2017

Duygu Selcen

series ordinal

3

1 reference

18 August 2017

Steven M Sine

series ordinal

4

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 January 2008

1 reference

Annals of the New York Academy of Sciences

18 August 2017

1 reference

18 August 2017

1132

1 reference

18 August 2017

104-113

1 reference

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Interference of hepatitis C virus RNA replication by short interfering RNAs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Gene silencing in mammals by small interfering RNAs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

A system for stable expression of short interfering RNAs in mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Stable suppression of gene expression by RNAi in mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Dok-7 mutations underlie a neuromuscular junction synaptopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

High-throughput selection of effective RNAi probes for gene silencing.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

26 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1196%2FANNALS.1405.039

An intersubunit trigger of channel gating in the muscle nicotinic receptor.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3478107

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

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18567859

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18567859

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18567859

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1196/ANNALS.1405.039

1 reference

18 August 2017

1 reference

18 August 2017

1 reference