(Q39887727)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191329%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Increasing the number of diagnostic mutations in malignant hyperthermia (English)

1 reference

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20 January 2020

5

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20 January 2020

author name string

Soledad Levano

1

1 reference

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20 January 2020

Mirko Vukcevic

2

1 reference

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20 January 2020

Martine Singer

3

1 reference

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20 January 2020

Anja Matter

4

1 reference

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20 January 2020

Albert Urwyler

6

1 reference

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20 January 2020

Thierry Girard

7

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20 January 2020

publication date

1 April 2009

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20 January 2020

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20 January 2020

volume

30

1 reference

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20 January 2020

issue

4

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20 January 2020

page(s)

590-598

1 reference

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Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing

20 January 2020

cites work

1 reference

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Deletion of amino acids 1641-2437 from the foot region of skeletal muscle ryanodine receptor alters the conduction properties of the Ca release channel

21 January 2018

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Prediction of protein stability changes for single-site mutations using support vector machines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Mutation of divergent region 1 alters caffeine and Ca(2+) sensitivity of the skeletal muscle Ca(2+) release channel (ryanodine receptor).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

What we don't know about the structure of ryanodine receptor calcium release channels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

[Mechanisms and their pharmacology of mobilization of calcium ion in muscle cells].

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Molecular genetic testing for malignant hyperthermia susceptibility

1 reference

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7 January 2021

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

RyR1/RyR3 chimeras reveal that multiple domains of RyR1 are involved in skeletal-type E-C coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Structure of Ca2+ release channel at 14 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20878

7 January 2021

Identifiers

DOI

10.1002/HUMU.20878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191329%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference