(Q45951207)

18 December 2017

title

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. (English)

1 reference

18 December 2017

congenital myasthenic syndrome

main subject

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based on heuristic

inferred from title

epidermolysis bullosa

1 reference

1 reference

R A Maselli

1

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18 December 2017

J Arredondo

2

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18 December 2017

O Cagney

3

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18 December 2017

T Mozaffar

4

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18 December 2017

S Skinner

5

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18 December 2017

S Yousif

6

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18 December 2017

R R Davis

7

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18 December 2017

J P Gregg

8

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18 December 2017

M Sivak

9

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18 December 2017

T H Konia

10

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18 December 2017

K Thomas

11

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18 December 2017

R L Wollmann

12

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18 December 2017

publication date

22 December 2010

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18 December 2017

published in

Clinical Genetics

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18 December 2017

volume

80

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18 December 2017

issue

5

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18 December 2017

page(s)

444-451

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18 December 2017

Occurrence and immunolocalization of plectin in tissues

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Congenital myasthenic syndromes and the formation of the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Further observations in congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

MUSK, a new target for mutations causing congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Dok-7 mutations underlie a neuromuscular junction synaptopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Variable phenotypes associated with mutations in DOK7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Heterogeneity of mammary lesions represent molecular differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

SLURP-1 and -2 in normal, immortalized and malignant oral keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Receptor-mediated tobacco toxicity: acceleration of sequential expression of alpha5 and alpha7 nicotinic receptor subunits in oral keratinocytes exposed to cigarette smoke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

A receptor-mediated mechanism of nicotine toxicity in oral keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Novel signaling pathways mediating reciprocal control of keratinocyte migration and wound epithelialization through M3 and M4 muscarinic receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Structural determinants of alpha4beta2 nicotinic acetylcholine receptor trafficking.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Nonsense-mediated mRNA decay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01602.X

10.1111/J.1399-0004.2010.01602.X

21 January 2018

Identifiers

DOI

1 reference

18 December 2017

1 reference

18 December 2017