(Q39543908)

12 September 2017

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. (English)

1 reference

congenital myasthenic syndrome

12 September 2017

0 references

1 reference

Hanns Lochmüller

10

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Angela Abicht

11

object named as

Angela Abicht

1 reference

12 September 2017

7

Maja von der Hagen

1 reference

12 September 2017

Constanze Gallenmüller

1

1 reference

12 September 2017

Wolfgang Müller-Felber

2

1 reference

12 September 2017

Marina Dusl

3

1 reference

12 September 2017

Rolf Stucka

4

1 reference

12 September 2017

Velina Guergueltcheva

5

1 reference

12 September 2017

Astrid Blaschek

6

1 reference

12 September 2017

Angela Huebner

8

1 reference

12 September 2017

Juliane S Müller

9

1 reference

12 September 2017

7 August 2013

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12 September 2017

Neuromuscular Disorders

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12 September 2017

24

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12 September 2017

1

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12 September 2017

31-35

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Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Initiation of synapse formation by Wnt-induced MuSK endocytosis

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Structural basis of agrin-LRP4-MuSK signaling

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Current status of the congenital myasthenic syndromes

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Congenital myasthenic syndromes in 2012.

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK)

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Muscle specific kinase: organiser of synaptic membrane domains

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

A method and server for predicting damaging missense mutations

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

What have we learned from the congenital myasthenic syndromes

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

LRP4 serves as a coreceptor of agrin

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

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

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Crystal structure of the agrin-responsive immunoglobulin-like domains 1 and 2 of the receptor tyrosine kinase MuSK

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

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

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

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

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Sequential roles of agrin, MuSK and rapsyn during neuromuscular junction formation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Wnt proteins regulate acetylcholine receptor clustering in muscle cells

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

MUSK, a new target for mutations causing congenital myasthenic syndrome

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Postsynaptic requirement for Abl kinases in assembly of the neuromuscular junction

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4018985

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24183479

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NMD.2013.08.002

1 reference

12 September 2017

1 reference

12 September 2017

PubMed publication ID

24183479

1 reference