(Q37098005)

18 August 2017

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

1 reference

18 August 2017

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R A Maselli

1

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18 August 2017

J J Ng

2

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18 August 2017

J A Anderson

3

1 reference

18 August 2017

O Cagney

4

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18 August 2017

J Arredondo

5

1 reference

18 August 2017

C Williams

6

1 reference

18 August 2017

H B Wessel

7

1 reference

18 August 2017

H Abdel-Hamid

8

1 reference

18 August 2017

R L Wollmann

9

1 reference

18 August 2017

language of work or name

English

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publication date

1 March 2009

1 reference

Journal of Medical Genetics

18 August 2017

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18 August 2017

46

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18 August 2017

3

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18 August 2017

203-208

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Laminins and their roles in mammals

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Bridging structure with function: structural, regulatory, and developmental role of laminins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Dok-7 mutations underlie a neuromuscular junction synaptopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

A simplified laminin nomenclature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Current understanding of congenital myasthenic syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Congenital myasthenic syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Laminins of the neuromuscular system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Synaptic laminin prevents glial entry into the synaptic cleft

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

The presynaptic calcium channel is part of a transmembrane complex linking a synaptic laminin (alpha4beta2gamma1) with non-erythroid spectrin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Variable phenotypes associated with mutations in DOK7.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

MUSK, a new target for mutations causing congenital myasthenic syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

A receptor-mediated mechanism of nicotine toxicity in oral keratinocytes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643050

Properly formed but improperly localized synaptic specializations in the absence of laminin alpha4

3 September 2018

1 reference

12 December 2020

Functional analysis of neurotransmission at beta2-laminin deficient terminals

1 reference

12 December 2020

A synaptic laminin–calcium channel interaction organizes active zones in motor nerve terminals

1 reference

12 December 2020

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2008.063693

1 reference

18 August 2017

1 reference

18 August 2017

1 reference