(Q37301198)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Pascale Richard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

E Goillot

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Véronique Bernard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Thierry Kuntzer

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Andrea Brancaccio

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

15

Michel Fardeau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Caroline Huzé

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Frédéric Chevessier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Karen Gaudon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Asma Ben Ammar

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Annie Chaboud

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Isabelle Grosjean

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Heba-Aude Lecuyer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Andrée Rouche

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Nektaria Alexandri

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Emmanuel Fournier

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Markus A Rüegg

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Jeanine Koenig

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Bruno Eymard

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Laurent Schaeffer

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Daniel Hantaï

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

language of work or name

English

0 references

publication date

23 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

3 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

85

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

155-167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

3 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2725239/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

LRP4 serves as a coreceptor of agrin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Lrp4 is a receptor for Agrin and forms a complex with MuSK

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Muscle-wide secretion of a miniaturized form of neural agrin rescues focal neuromuscular innervation in agrin mutant mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Alpha3Na+/K+-ATPase is a neuronal receptor for agrin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Agrin promotes synaptic differentiation by counteracting an inhibitory effect of neurotransmitter

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Current understanding of congenital myasthenic syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

The cytoskeleton in neurodegenerative diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Congenital myasthenic syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

New insights into the roles of agrin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Neural agrin controls acetylcholine receptor stability in skeletal muscle fibers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Association of muscle-specific kinase MuSK with the acetylcholine receptor in mammalian muscle.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Agrin binds to the nerve-muscle basal lamina via laminin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Acetylcholine receptor-aggregating activity of agrin isoforms and mapping of the active site

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Structure and chromosomal localization of the mammalian agrin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

cDNA that encodes active agrin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Distinct protein components from Torpedo marmorata membranes carry the acetylcholine receptor site and the binding site for local anesthetics and histrionicotoxin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Neural agrin increases postsynaptic ACh receptor packing by elevating rapsyn protein at the mouse neuromuscular synapse.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Dok-7 mutations underlie a neuromuscular junction synaptopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Effects of purified recombinant neural and muscle agrin on skeletal muscle fibers in vivo.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Agrin-deficient myotube retains its acetylcholine receptor aggregation ability when challenged with agrin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Physiological effects of endogenous ouabain: control of intracellular Ca2+ stores and cell responsiveness

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Alternative splicing of agrin alters its binding to heparin, dystroglycan, and the putative agrin receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Muscle activity and muscle agrin regulate the organization of cytoskeletal proteins and attached acetylcholine receptor (AchR) aggregates in skeletal muscle fibers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin--glycoprotein complex

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

A minigene of neural agrin encoding the laminin-binding and acetylcholine receptor-aggregating domains is sufficient to induce postsynaptic differentiation in muscle fibres

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Synaptic differentiation: the role of agrin in the formation and maintenance of the neuromuscular junction

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

Some comments on the histochemical characterization of muscle adenosine triphosphatase.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

MUSK, a new target for mutations causing 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=2725239

Electrical activity and postsynapse formation in adult muscle: gamma-AChRs are not required.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725239

The alpha3 isoform protein of the Na+, K(+)-ATPase is associated with the sites of cardiac and neuromuscular impulse transmission

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19631309

12 December 2020

inferred from PubMed ID database lookup

Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19631309

12 December 2020

inferred from PubMed ID database lookup

A histochemical method for localizing cholinesterase activity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19631309

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2009.06.015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19631309%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference