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English
Congenital myasthenic syndromes: experiments of nature
scientific article published on 01 April 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Congenital myasthenic syndromes: experiments of nature
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
author
Kinji Ohno
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
author name string
Engel AG
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
Sine SM
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
publication date
1 April 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
published in
Journal of Physiology (Paris)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
volume
92
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
page(s)
113-117
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
cites work
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0928-4257%2898%2980147-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0928-4257(98)80147-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
PubMed publication ID
9782453
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9782453
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9782453%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
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