(Q34310899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

case report

0 references

title

Defective presynaptic choline transport underlies hereditary motor neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

9

Mary M Reilly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Katy E S Barwick

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Jane Wright

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Saeed Al-Turki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Meriel M McEntagart

4

1 reference

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17 February 2020

Ajith Nair

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Ali Al-Memar

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Hamid Modarres

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Katherine J Dick

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Alicia M Ruggiero

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Randy D Blakely

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Matt E Hurles

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Andrew H Crosby

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

language of work or name

English

0 references

publication date

8 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

volume

91

1 reference

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17 February 2020

issue

6

1 reference

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17 February 2020

page(s)

1103-1107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

The distal hereditary motor neuropathies.

17 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Dok-7 mutations underlie a neuromuscular junction synaptopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

The high-affinity choline transporter: a critical protein for sustaining cholinergic signaling as revealed in studies of genetically altered mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Molecular architecture of the neuromuscular junction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

6 July 2018

Synaptic vesicle pools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

The choline transporter resurfaces: new roles for synaptic vesicles?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Protein kinase C activation regulates human serotonin transporters in HEK-293 cells via altered cell surface expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Hereditary spastic paraplegias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Distal spinal muscular atrophy with vocal cord paralysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

An activity-dependent retrograde signal induces the expression of the high-affinity choline transporter in cholinergic neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Deficits in acetylcholine homeostasis, receptors and behaviors in choline transporter heterozygous mice.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Ultrastructural localization of high-affinity choline transporter in the rat neuromuscular junction: enrichment on synaptic vesicles

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Vesicular Localization and Activity-Dependent Trafficking of Presynaptic Choline Transporters

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141292

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.09.019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

23141292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292%20AND%20SRC:MED&resulttype=core&format=json