(Q36569488)

15 August 2017

1 reference

title

Mutations in RYR1 in malignant hyperthermia and central core disease (English)

1 reference

15 August 2017

malignant hyperthermia

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Rachel Robinson

1

1 reference

15 August 2017

Danielle Carpenter

2

1 reference

15 August 2017

Marie-Anne Shaw

3

1 reference

15 August 2017

Jane Halsall

4

1 reference

15 August 2017

Philip Hopkins

5

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15 August 2017

1 October 2006

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15 August 2017

1 reference

15 August 2017

27

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15 August 2017

10

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15 August 2017

977-989

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A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility

15 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Congenital myopathies: diseases of the actin cytoskeleton.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Central-core disease and malignant hyperpyrexia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Effects of Mg(2+) and SR luminal Ca(2+) on caffeine-induced Ca(2+) release in skeletal muscle from humans susceptible to malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Mg2+ dependence of halothane-induced Ca2+ release from the sarcoplasmic reticulum in skeletal muscle from humans susceptible to malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Ryanodine receptor calcium release channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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/10.1002%2FHUMU.20356

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.20356

7 January 2021

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Assignment of the gene for central core disease to chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

No C1840 to T mutation in RYR1 in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Endocrine and metabolic disorders in anaesthesia and intensive care

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

What's new in neuromuscular disorders? The congenital myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Dantrolene stabilizes domain interactions within the ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Dantrolene--a review of its pharmacology, therapeutic use and new developments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Different Ca2+ releasing action of caffeine and depolarisation in skeletal muscle fibres of the rat

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Gly341Arg mutation indicating malignant hyperthermia susceptibility:

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Ca-induced Ca release in malignant hyperthermia-susceptible pig skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

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.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Central core disease: clinical, pathological, and genetic features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Several interacting genes influence the malignant hyperthermia phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Multipoint mapping of the central core disease locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

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.20356

7 January 2021

Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia: a review of published cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Voltage-dependent calcium release in human malignant hyperthermia muscle fibers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

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.20356

7 January 2021

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Malignant hyperthermia and apparent heat stroke

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20356

7 January 2021

Identifiers

DOI

10.1002/HUMU.20356

1 reference

15 August 2017

1 reference