(Q47827089)

6 February 2018

title

Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. (English)

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6 February 2018

author name string

Gomez CM

1

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6 February 2018

Maselli R

2

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6 February 2018

Williams JM

3

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6 February 2018

Bhattacharyya BB

4

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6 February 2018

Wollmann RL

5

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6 February 2018

Day JW

6

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6 February 2018

language of work or name

English

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publication date

1 May 1998

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6 February 2018

Annals of the New York Academy of Sciences

published in

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6 February 2018

volume

841

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6 February 2018

page(s)

167-180

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6 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

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/10.1111%2FJ.1749-6632.1998.TB10923.X

Muscle creatine kinase sequence elements regulating skeletal and cardiac muscle expression in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

Voltage dependence of agonist effectiveness at the frog neuromuscular junction: resolution of a paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

Voltage clamping of unparalysed cut rat diaphragm for study of transmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10923.X

10.1111/J.1749-6632.1998.TB10923.X

21 January 2018

Identifiers

DOI

1 reference

6 February 2018

1 reference

6 February 2018