Disease: Malignant hyperthermia susceptibility type 6
- 'Picture frame' fibres in a carrier of the trait for malignant hyperpyrexia
- A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
- A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations
- An image analysis study of vastus lateralis muscle fibers in malignant hyperthermia susceptible patients
- Arg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loop
- BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis
- Caffeine skinned fiber tension test: application to the diagnosis of susceptibility to malignant hyperthermia
- Cardiac manifestation and blood catecholamine levels during succinylcholine-induced stress of malignant hyperthermia sensitive pigs
- Central core disease. Report of 2 cases in adults
- Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia
- CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes
- Comparison of metabolites in skeletal muscle biopsies from normal humans and those susceptible to malignant hyperthermia
- Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease
- Disordered catecholamine release in pigs susceptible to malignant hyperthermia
- Effects of meat quality and storage on the breakdown of adenosine triphosphate in muscle from swine
- 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 analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility
- Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome
- 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 characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia
- Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals
- Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit
- In vitro and in vivo effects of the phosphodiesterase-III inhibitor enoximone on malignant hyperthermia-susceptible swine
- 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
- JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor
- 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
- 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 during cataract extraction in an elderly patient
- Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
- Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene
- 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
- Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met
- Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility
- Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)
- Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice
- Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice
- Pathological findings in 165 patients explored for malignant hyperthermia susceptibility
- 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
- Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers
- Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
- 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 mutations found in the Canadian malignant hyperthermia population
- RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre
- Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia
- Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility
- Sex-specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia-susceptible mice
- Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia
- The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle
- The porcine PHIcDNA linked to the halothane gene detects a HindIII and XbaI RFLP in normal and malignant hyperthermia susceptible pigs
- The porcine PHIcDNA linked to the halothane gene detects a NotI RFLP in normal and malignant hyperthermia susceptible pigs
- The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases
- The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility
- Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia
- TRPV1 variants impair intracellular Ca(2+) signaling and may confer susceptibility to malignant hyperthermia
- TRPV1 variants impair intracellular Ca<sup>2+</sup> signaling and may confer susceptibility to malignant hyperthermia
- Yersinia septic shock following an autologous transfusion in a pediatric patient