(Q33903152)

29 July 2017

1 reference

title

Ryanodine receptor mutations in malignant hyperthermia and central core disease (English)

1 reference

29 July 2017

malignant hyperthermia

1 reference

McCarthy TV

1

1 reference

PubMed ID

10790202

29 July 2017

Quane KA

series ordinal

2

1 reference

PubMed ID

10790202

29 July 2017

Lynch PJ

series ordinal

3

1 reference

29 July 2017

1 January 2000

1 reference

29 July 2017

1 reference

29 July 2017

15

1 reference

29 July 2017

410-417

1 reference

29 July 2017

5

1 reference

The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

29 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Analysis of anaesthesia in patients suspected to be susceptible to malignant hyperthermia before diagnostic in vitro contracture test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Ryanodine receptor isoforms in excitation-contraction coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

A new congenital non-progressive myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Voltage-dependent calcium release in human malignant hyperthermia muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

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%2F%28SICI%291098-1004%28200005%2915%3A5%3C410%3A%3AAID-HUMU2%3E3.0.CO%3B2-D

10.1002/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10790202