(Q47671697)

4 February 2018

title

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor (English)

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4 February 2018

author

Kinji Ohno

1

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author name string

Anlar B

2

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Ozdirim E

3

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Brengman JM

4

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DeBleecker JL

5

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Engel AG

6

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publication date

1 August 1998

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4 February 2018

published in

Annals of Neurology

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4 February 2018

volume

44

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4 February 2018

issue

2

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page(s)

234-241

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4 February 2018

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440214

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440214

Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

Assembly of the Nicotinic Acetylcholine Receptor

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

Assembly intermediates of the mouse muscle nicotinic acetylcholine receptor in stably transfected fibroblasts

21 January 2018

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https://api.crossref.org/works/10.1002%2FANA.410440214

Messenger RNA degradation in eukaryotes

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Mammalian orthologues of a yeast regulator of nonsense transcript stability

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

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

21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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Identifiers

DOI

10.1002/ANA.410440214

1 reference

4 February 2018

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4 February 2018