Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit (Q24669721)

16

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Stefan Mundlos

18

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Sigmar Stricker

3

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Anna Rajab

5

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Eugen Boltshauser

12

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Peter Robinson

15

object named as

Peter N Robinson

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Valerie Delague

object named as

Valerie Delague

11

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author name string

Katrin Hoffmann

1

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Juliane S Muller

2

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Andre Megarbane

4

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Tom H Lindner

6

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Monika Cohen

7

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Eliane Chouery

8

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Lynn Adaimy

9

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Ismat Ghanem

10

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Beril Talim

13

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Christoph Hübner

American Journal of Human Genetics

17

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language of work or name

English

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publication date

August 2006

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published in

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volume

79

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issue

2

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page(s)

303-12

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cites work

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

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=1559482

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

The acetylcholine receptor gamma-to-epsilon switch occurs in individual endplates

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Current understanding of congenital myasthenic syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Regulation of nicotinic acetylcholine receptor assembly.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

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=1559482

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=1559482

Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Arthrogryposis following treatment of maternal tetanus with muscle relaxants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

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=1559482

Comparison of mammalian adult and fetal nicotinic acetylcholine receptors stably expressed in fibroblasts.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Autoimmune Response to Acetylcholine Receptor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559482

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=1559482

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=1559482

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother

28 November 2018

1 reference

12 December 2020

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

1 reference

12 December 2020

Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch

1 reference

12 December 2020

Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit

1 reference

12 December 2020

Experimental clubfoot and arthrogryposis multiplex congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype

1 reference

12 December 2020

The role of movement in the development of joints and related structures: the head and neck in the chick embryo

1 reference

12 December 2020

Fetal akinesia deformation sequence: an animal model

1 reference

12 December 2020

Arthrogryposis Multiplex Congenita

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F506257

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/506257

1 reference

300533

300533

1 reference

1 reference

1 reference