(Q24669597)

10

0 references

Neil V Morgan

Neil V Morgan

1

0 references

Richard C Trembath

Richard C Trembath

14

0 references

0 references

16

Eamonn R Maher

0 references

Han G. Brunner

15

Han G Brunner

0 references

Irene A Aligianis

7

Irene A Aligianis

0 references

Shanaz Pasha

6

Shanaz Pasha

0 references

author name string

Louise A Brueton

2

0 references

Phillip Cox

3

0 references

Marie T Greally

4

0 references

John Tolmie

5

0 references

Tamas Marton

9

0 references

Jenny E V Morton

11

0 references

Christine Oley

12

0 references

Colin A Johnson

American Journal of Human Genetics

13

0 references

language of work or name

English

0 references

publication date

August 2006

0 references

published in

0 references

volume

79

0 references

page(s)

390-5

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issue

2

0 references

cites work

Muscle channelopathies and critical points in functional and genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Limb pterygium syndromes: a review and report of eleven patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Molecular distinction between fetal and adult forms of muscle acetylcholine 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=1559492

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Differential expression patterns of five acetylcholine receptor subunit genes in rat muscle during development.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

The lethal multiple pterygium syndromes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Multiple pterygium syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559492

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16826531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16826531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16826531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/506256

1 reference

1181343

1181343

1 reference

1 reference

1 reference