AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands. - Wikidata - wikimedia - TriplyDB

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

http://www.wikidata.org/entity/Q37378302

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A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family Autoantibodies to neurotransmitter receptors and ion channels: from neuromuscular to neuropsychiatric disorders.

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P2860

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

http://www.wikidata.org/entity/Q37378302

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 21 June 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@en

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@nl

type

label

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@en

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@nl

prefLabel

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@en

AChR deficiency due to epsilon ...... mutations in the Netherlands.

@nl

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S00415-009-5190-7

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Journal of Neurology

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AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands

@en

P2093

David Beeson

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Domenic M Bonifati

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Jan B M Kuks

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Johannes S H Vles

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John H J Wokke

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Marc De Baets

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Peter C Molenaar

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Pieter A van Doorn

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P2860

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

Congenital myasthenic syndromes: recent advances.

Molecular targets for autoimmune and genetic disorders of neuromuscular transmission.

Congenital myasthenic syndromes: progress over the past decade.

Current understanding of congenital myasthenic syndromes.

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

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

Congenital myasthenic syndromes. Studies of the AChR and other candidate genes.

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1719-1723

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Catharina G Faber

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