Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1983 1
1986 1
1988 1
1989 2
1992 1
1993 1
1994 2
1995 1
1996 2
1997 2
2000 2
2001 3
2003 1
2004 1
2006 2
2007 2
2009 1
2010 1
2011 1
2013 1
2014 1
2015 1
2016 2
2017 1
2018 2
2019 2
2020 4
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

44 results

Results by year

Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. Orphanet J Rare Dis. 2015. PMID: 26238698 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, a …
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to pot …
Skeletal muscle Ca(V)1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
To date, four types of muscle diseases are known that can be linked to mutations in the CACNA1S gene or to splicing defects. These are hypo- and normokalemic periodic paralysis, malignant hyperthermia susceptibility, Ca(V)1.1-related myopathies, …
To date, four types of muscle diseases are known that can be linked to mutations in the CACNA1S gene or to splicing defects. These are hypo- …
Malignant Hyperthermia Susceptibility and Related Diseases.
Litman RS, Griggs SM, Dowling JJ, Riazi S. Litman RS, et al. Anesthesiology. 2018 Jan;128(1):159-167. doi: 10.1097/ALN.0000000000001877. Anesthesiology. 2018. PMID: 28902673 Free article. Review. No abstract available.
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. Orphanet J Rare Dis. 2007. PMID: 17456235 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, i …
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to pot …
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyper …
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscl …
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA, Loudermilk EF, Kisor DF. Beam TA, et al. Physiol Genomics. 2017 Feb 1;49(2):81-87. doi: 10.1152/physiolgenomics.00126.2016. Epub 2016 Dec 23. Physiol Genomics. 2017. PMID: 28011884 Review.
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malignant hyperthermia susceptibility type 5 (MHS5; MIM #60188) is presented. ...In addition to ryanodine receptor 1 (RY …
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malig …
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Lawal TA, et al. Orphanet J Rare Dis. 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. Orphanet J Rare Dis. 2020. PMID: 32381029 Free PMC article. Review.
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum …
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant …
Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke.
Protasi F, Paolini C, Dainese M. Protasi F, et al. J Physiol. 2009 Jul 1;587(Pt 13):3095-100. doi: 10.1113/jphysiol.2009.171967. Epub 2009 May 5. J Physiol. 2009. PMID: 19417098 Free PMC article. Review.
Malignant hyperthermia (MH) and exertional/environmental heat stroke (EHS) in humans present as similar life threatening crises triggered by volatile anaesthetics and strenuous exercise and/or high temperature, respectively. Many families (70-80%) diagnosed with MH …
Malignant hyperthermia (MH) and exertional/environmental heat stroke (EHS) in humans present as similar life threatening crise …
DNA testing for malignant hyperthermia: the reality and the dream.
Stowell KM. Stowell KM. Anesth Analg. 2014 Feb;118(2):397-406. doi: 10.1213/ANE.0000000000000063. Anesth Analg. 2014. PMID: 24445638 Review.
Moreover, MH is preventable if an accurate diagnosis of susceptibility can be made before general anesthesia, the most common trigger of an MH episode. Diagnosis of MH using DNA was suggested as early as 1990 when the skeletal muscle ryanodine receptor gene (RYR1), and a s …
Moreover, MH is preventable if an accurate diagnosis of susceptibility can be made before general anesthesia, the most common trigger …
Review of RyR1 pathway and associated pathomechanisms.
Witherspoon JW, Meilleur KG. Witherspoon JW, et al. Acta Neuropathol Commun. 2016 Nov 17;4(1):121. doi: 10.1186/s40478-016-0392-6. Acta Neuropathol Commun. 2016. PMID: 27855725 Free PMC article. Review.
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or ma …
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Muta …
44 results