(Q45025568)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

main subject

patient

0 references

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Mor Gueye

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Séverine Guettier-Sigrist

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Isabelle Courdier-Fruh

4

1 reference

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31 December 2019

Gilliane Coupin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Philippe Poindron

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Jean-Pierre Gies

7

1 reference

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31 December 2019

publication date

1 October 2004

1 reference

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31 December 2019

published in

Laboratory Investigation

1 reference

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31 December 2019

volume

84

1 reference

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31 December 2019

issue

10

1 reference

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31 December 2019

page(s)

1271-1278

1 reference

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https://scigraph.springernature.com/pub.10.1038/labinvest.3700163

31 December 2019

exact match

0 references

cites work

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

The SMN complex, an assemblyosome of ribonucleoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

De novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: ultrastructural and ultrastructural--cytochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Constitutive muscular abnormalities in culture in spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Degeneration of cocultures of spinal muscular atrophy muscle cells and rat spinal cord explants is not due to secreted factors and cannot be prevented by neurotrophins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Muscle could be the therapeutic target in SMA treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Agrin released by motor neurons induces the aggregation of acetylcholine receptors at neuromuscular junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Agrin orchestrates synaptic differentiation at the vertebrate neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Agrin acts via a MuSK receptor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Agrin-induced AChR aggregate formation requires cGMP and aggregate maturation requires activation of cGMP-dependent protein kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Construction of a plasmid containing human SMN, the SMA determining gene, coupled to EGFP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Clustering of nicotinic acetylcholine receptors: from the neuromuscular junction to interneuronal synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Development of the vertebrate neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Neuromuscular synaptogenesis: clustering of acetylcholine receptors revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Muscle-specific trk-related receptor with a kringle domain defines a distinct class of receptor tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

ARIA: a neuromuscular junction neuregulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

On the possible role of muscle in the pathogenesis of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

Agrin induces phosphorylation of the nicotinic acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

The Agrin/MuSK signaling pathway is spatially segregated from the neuregulin/ErbB receptor signaling pathway at the neuromuscular junction.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

Depletion and sizes of motor units in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700163

7 January 2021

10.1038/LABINVEST.3700163

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322565%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 December 2019

0 references

1 reference