(Q39337788)

11 September 2017

title

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome (English)

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11 September 2017

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neuromuscular junction

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Judith Cossins

1

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11 September 2017

Wei Wei Liu

2

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11 September 2017

Katsiaryna Belaya

3

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11 September 2017

Susan Maxwell

4

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11 September 2017

Michael Oldridge

5

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11 September 2017

Tracy Lester

6

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11 September 2017

Stephanie Robb

7

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11 September 2017

David Beeson

8

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11 September 2017

publication date

1 June 2012

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11 September 2017

published in

Human Molecular Genetics

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11 September 2017

volume

21

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11 September 2017

issue

17

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11 September 2017

page(s)

3765-3775

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The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

11 September 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

The congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Congenital myasthenic syndromes in 2012.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Dok-7 mutations underlie a neuromuscular junction synaptopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Clinical features of the DOK7 neuromuscular junction synaptopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Variable phenotypes associated with mutations in DOK7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Characterization of the human cell line TE671.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS198

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS198

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11 September 2017

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