Disease: Malignant hyperthermia susceptibility type 5
- A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
- AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation
- Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations
- BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis
- Calcium uptake in frozen muscle biopsy sections compared with other predictors of malignant hyperthermia susceptibility
- Central core disease. Clinical features in 13 patients
- Congenital insensitivity to pain with anhydrosis: report of a family case
- Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility
- Cyclic ADP-ribose induces a larger than normal calcium release in malignant hyperthermia-susceptible skeletal muscle fibers
- Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres
- Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease
- Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
- Eccentric contractions do not induce rhabdomyolysis in malignant hyperthermia susceptible mice
- Effects of a high n-3 fatty acid diet on membrane lipid composition of heart and skeletal muscle in normal swine and in swine with the genetic mutation for malignant hyperthermia
- Effects of meat quality and storage on the breakdown of adenosine triphosphate in muscle from swine
- Effects of propofol on Ca2+ regulation by malignant hyperthermia-susceptible muscle membranes
- Effects of the phosphodiesterase-III inhibitor enoximone on skeletal muscle specimens from malignant hyperthermia susceptible patients
- Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR
- Exome sequencing: one small step for malignant hyperthermia, one giant step for our specialty--why exome sequencing matters to all of us, not just the experts
- Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series
- Fiber-type caffeine sensitivities in skinned muscle fibers from humans susceptible to malignant hyperthermia
- Fiber-type specific caffeine sensitivities in normal human skinned muscle fibers
- Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia
- Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice
- High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study
- Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients
- Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals
- In vitro 31P-magnetic resonance spectroscopy of muscle extracts in malignant hyperthermia-susceptible patients
- In vitro and in vivo effects of the phosphodiesterase-III inhibitor enoximone on malignant hyperthermia-susceptible swine
- In vitro responses of cat skeletal muscle to halothane and caffeine
- Is the "K-type" caffeine-halothane responder susceptible to malignant hyperthermia?
- JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor
- Lethal multiple pterygium syndrome
- Male preponderance of patients testing positive for malignant hyperthermia susceptibility
- Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States
- Malignant Hyperthermia Susceptibility
- Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin
- Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
- Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship?
- Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness
- North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations
- Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
- Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice
- Pathological findings in 165 patients explored for malignant hyperthermia susceptibility
- Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes
- Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia
- Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse
- PharmGKB summary: very important pharmacogene information for CACNA1S
- Phosphodiesterase-III-inhibition with amrinone leads to contracture development in skeletal muscle preparations of malignant hyperthermia susceptible swine
- Porcine malignant hyperthermia: halothane effects on force generation in skeletal muscles
- Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia
- Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
- Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States
- Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers
- Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency
- Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95)
- Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States
- RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre
- Slow calcium current is not reduced in malignant hyperthermic porcine myotubes
- Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia
- Suspected Malignant Hyperthermia in the Setting of Hypothermic Circulatory Arrest for Type A Aortic Dissection Repair: A Case Report
- The anesthetic myopathies and malignant hyperthermias
- The differential effect of halothane and 1,2-dichlorohexafluorocyclobutane on in vitro muscle contractures of patients susceptible to malignant hyperthermia
- Tissue distribution of ryanodine receptor isoforms and alleles determined by reverse transcription polymerase chain reaction
- Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia
- Using exome data to identify malignant hyperthermia susceptibility mutations
- Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <em>RYR1</em>