Neuromotor synapses in Escobar syndrome. (Q52643448)

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scientific article published on 16 August 2013

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Language	Label	Description	Also known as
English	Neuromotor synapses in Escobar syndrome.	scientific article published on 16 August 2013

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instance of

scholarly article

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Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

title

Neuromotor synapses in Escobar syndrome (English)

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stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

author

Robert E Akins

series ordinal

6

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stated in

Europe PubMed Central

PMC publication ID

5600816

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

Karen Gripp

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4

object named as

Karen W Gripp

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stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

author name string

Karyn G Robinson

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1

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

Matthew J Viereck

series ordinal

2

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

Megan V Margiotta

series ordinal

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

Omar A Abdul-Rahman

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

language of work or name

English

0 references

publication date

16 August 2013

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stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

published in

American Journal of Medical Genetics

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stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

volume

161A

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stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

issue

12

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

page(s)

3042-3048

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Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

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Postsynaptic development of the neuromuscular junction in mice lacking the gamma-subunit of muscle nicotinic acetylcholine receptor.

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22 May 2018

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

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22 May 2018

Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning

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22 May 2018

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

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22 May 2018

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

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Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

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Germline mutation in DOK7 associated with fetal akinesia deformation sequence

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C Histomorphology of neuromuscular junction in Duchenne muscular dystrophy.

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13 August 2018

Neuromuscular junctions in cerebral palsy: presence of extrajunctional acetylcholine receptors

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13 August 2018

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

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13 August 2018

Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy

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CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

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21 January 2018

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

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reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.36154

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

PMC publication ID

5600816

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

PubMed publication ID

24038971

1 reference

stated in

Europe PubMed Central

PMC publication ID

5600816

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038971%20AND%20SRC:MED&resulttype=core&format=json

retrieved

21 February 2020

 

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