(Q34139686)

31 July 2017

title

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes (English)

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31 July 2017

main subject

malignant hyperthermia

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6

Rupert J Quinnell

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author name string

Rachel L Robinson

1

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31 July 2017

Collin Brooks

2

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31 July 2017

Sarah L Brown

3

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31 July 2017

F Richard Ellis

4

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31 July 2017

P Jane Halsall

5

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31 July 2017

Marie-Anne Shaw

7

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31 July 2017

Philip M Hopkins

8

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31 July 2017

publication date

1 August 2002

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31 July 2017

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31 July 2017

volume

20

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31 July 2017

issue

2

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31 July 2017

page(s)

88-97

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Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

A negatively charged region of the skeletal muscle ryanodine receptor is involved in Ca(2+)-dependent regulation of the Ca(2+) release channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Multicentre evaluation of ryanodine contracture testing in malignant hyperthermia. The European Malignant Hyperthermia Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Malignant hyperthermia: advances in clinical management and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Ryanodine receptor mutations in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

A new congenital non-progressive myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Calcium transport across the sarcoplasmic reticulum: structure and function of Ca2+-ATPase and the ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Malignant hyperthermia susceptibility, an autosomal dominant disorder?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Endocrine and metabolic disorders in anaesthesia and intensive care

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Postulated role of interdomain interaction within the ryanodine receptor in Ca(2+) channel regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10098

7 January 2021

Identifiers

DOI

10.1002/HUMU.10098

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31 July 2017

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