(Q35209452)

7 August 2017

title

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies (English)

1 reference

7 August 2017

main subject

malignant hyperthermia

1 reference

4

John B Harley

1 reference

7 August 2017

1

Georgirene D Vladutiu

1 reference

7 August 2017

Paul J Isackson

2

1 reference

7 August 2017

Kenneth Kaufman

3

1 reference

7 August 2017

Beth Cobb

5

1 reference

7 August 2017

Lisa Christopher-Stine

6

1 reference

7 August 2017

Robert L Wortmann

7

1 reference

7 August 2017

publication date

12 July 2011

1 reference

Molecular Genetics and Metabolism

7 August 2017

published in

1 reference

7 August 2017

volume

104

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7 August 2017

issue

1-2

1 reference

7 August 2017

page(s)

167-173

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A map of human genome variation from population-scale sequencing

7 August 2017

cites work

1 reference

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Statins alter intracellular calcium homeostasis in malignant hyperthermia susceptible individuals

28 July 2018

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Statin therapy and the expression of genes that regulate calcium homeostasis and membrane repair in skeletal muscle

28 July 2018

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Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options

28 July 2018

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The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia

28 July 2018

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Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke

28 July 2018

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Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice

28 July 2018

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Increasing the number of diagnostic mutations in malignant hyperthermia.

28 July 2018

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28 July 2018

Malignant hyperthermia

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Mutations in RYR1 in malignant hyperthermia and central core disease

28 July 2018

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Genetic risk factors associated with lipid-lowering drug-induced myopathies

28 July 2018

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

28 July 2018

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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

28 July 2018

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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.

28 July 2018

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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

28 July 2018

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

28 July 2018

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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.

28 July 2018

1 reference

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Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

28 July 2018

1 reference

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

28 July 2018

1 reference

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Molecular basis of AMP deaminase deficiency in skeletal muscle

28 July 2018

1 reference

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171598

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

28 July 2018

1 reference

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Signalling and the control of skeletal muscle size

26 September 2018

1 reference

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Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171598

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171598

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

26 September 2018

1 reference

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Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?

26 September 2018

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

26 September 2018

1 reference

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

26 September 2018

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

26 September 2018

1 reference

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171598

Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171598

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

26 September 2018

1 reference

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In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects

15 November 2018

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Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.001

Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.001

Polymorphic variation in the human myostatin (GDF-8) gene and association with strength measures in the Women's Health and Aging Study II cohort

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.001

10.1016/J.YMGME.2011.07.001

7 January 2021

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference