(Q45116927)

9 December 2017

title

MUSK, a new target for mutations causing congenital myasthenic syndrome (English)

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9 December 2017

author

Aymeric Ravel-Chapuis

3

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9 December 2017

6

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9 December 2017

11

Jean-Philippe Azulay

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9 December 2017

18

Michel Fardeau

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9 December 2017

Frédéric Chevessier

1

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9 December 2017

Brice Faraut

2

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9 December 2017

Pascale Richard

4

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9 December 2017

Karen Gaudon

5

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9 December 2017

Cassandra Prioleau

7

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9 December 2017

Ruth Herbst

8

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9 December 2017

Evelyne Goillot

9

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9 December 2017

Christine Ioos

10

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9 December 2017

Shahram Attarian

12

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9 December 2017

Jean-Paul Leroy

13

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9 December 2017

Emmanuel Fournier

14

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9 December 2017

Claire Legay

15

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9 December 2017

Laurent Schaeffer

16

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9 December 2017

Jeanine Koenig

17

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9 December 2017

Bruno Eymard

19

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9 December 2017

Jean Pouget

20

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9 December 2017

Daniel Hantaï

21

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9 December 2017

publication date

20 October 2004

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9 December 2017

published in

Human Molecular Genetics

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9 December 2017

volume

13

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9 December 2017

issue

24

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9 December 2017

page(s)

3229-3240

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Congenital myasthenic syndromes: progress over the past decade.

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Agrin acts via a MuSK receptor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

MuSK induces in vivo acetylcholine receptor clusters in a ligand-independent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

New insights into the roles of agrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

The juxtamembrane region of MuSK has a critical role in agrin-mediated signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Targeting transcription to the neuromuscular synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Peripheral nervous system defects in erbB2 mutants following genetic rescue of heart development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

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/10.1093%2FHMG%2FDDH333

Are MuSK antibodies the primary cause of myasthenic symptoms?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Cloning and characterization of muscle-specific kinase in chicken.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Inhibition of synapse assembly in mammalian muscle in vivo by RNA interference

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Crystal structure of the MuSK tyrosine kinase: insights into receptor autoregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Building the vertebrate neuromuscular synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Neurofilament functions in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

Rapid and efficient site-specific mutagenesis without phenotypic selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

High-efficiency gene transfer into skeletal muscle mediated by electric pulses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

An 83-nucleotide promoter of the acetylcholine receptor epsilon-subunit gene confers preferential synaptic expression in mouse muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH333

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH333

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9 December 2017

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