(Q24337722)

GOA release 2020-03-11

muscle contraction

1 reference

GOA release 2020-03-11

8

J F Gusella

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author name string

A I McClatchey

1

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D McKenna-Yasek

2

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D Cros

3

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H G Worthen

4

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R W Kuncl

5

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S M DeSilva

6

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D R Cornblath

7

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R H Brown

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

9

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language of work or name

English

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publication date

October 1992

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published in

Nature Genetics

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volume

2

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issue

2

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page(s)

148-52

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cites work

1 reference

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

20 April 2017

1 reference

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

20 April 2017

1 reference

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

20 April 2017

1 reference

Linkage of atypical myotonia congenita to a sodium channel locus

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Localization of sodium channel subtypes in adult rat skeletal muscle using channel-specific monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Expression of sodium channel subtypes during development in rat skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-148

7 January 2021