(Q24612220)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Fenella J. Kirkham

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

A Tsujino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

J M Brengman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

C M Harper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Z Bajzer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

B Udd

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Beyring

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Robb

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A G Engel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

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

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

2017-2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Choline acetyltransferase-deficient mutants of the nematode Caenorhabditis elegans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Human choline acetyltransferase gene: localization of alternative first exons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Re-evaluation of the kinetic mechanism of the choline acetyltransferase reaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Identification and characterization of the high-affinity choline transporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Myasthenia gravis in the newborn.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Kinesin-II is required for axonal transport of choline acetyltransferase in Drosophila.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Nuclear localization of the 82-kDa form of human choline acetyltransferase.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Redesign of choline acetyltransferase specificity by protein engineering

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Upstream sequencing and functional characterization of the human cholinergic gene locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Functional analysis of conserved histidines in choline acetyltransferase by site-directed mutagenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Arthrogryposis multiplex congenita due to congenital myasthenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Human growth hormone as a reporter gene in regulation studies employing transient gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Cloning of the rat gene encoding choline acetyltransferase, a cholinergic neuron-specific marker

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Clinical Syndromes of Myasthenia in Infancy and Childhood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

The slow axonal transport of cytoskeletal proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Choline acetyltransferase and acetylcholine levels in Drosophila melanogaster: a study using two temperature-sensitive mutants.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Complementary DNAs for choline acetyltransferase from spinal cords of rat and mouse: nucleotide sequences, expression in mammalian cells, and in situ hybridization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

A rapid radiochemical method for the determination of choline acetyltransferase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.98.4.2017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.98.4.2017

Vesicular neurotransmitter transport and the presynaptic regulation of quantal size.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.98.4.2017

The cholinergic gene locus.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=29374

Familial infantile myasthenia: confusion in terminology

28 November 2018

1 reference

12 December 2020

Familial infantile myasthenia gravis: a cause of sudden death in young children

1 reference

12 December 2020

Familial Infantile Myasthenia

1 reference

12 December 2020

Familial infantile myasthenia gravis: a preventable cause of sudden death

1 reference

12 December 2020

Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life

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

Complete sequence of a cDNA encoding an active rat choline acetyltransferase: a tool to investigate the plasticity of cholinergic phenotype expression

1 reference

12 December 2020

Familial infantile myasthenia: a neuromuscular cause of respiratory failure

1 reference

12 December 2020

Identification of an active site arginine in rat choline acetyltransferase by alanine scanning mutagenesis

1 reference

12 December 2020

A sputtered gold microelectrode in combination with a multibarrelled micropipette: a low impedance extracellular recording electrode with the facility of iontophoresis

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.98.4.2017

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.98.4.2017

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

ADS bibcode

2001PNAS...98.2017O

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11172068%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

2 references