review article | Q7318358 |
scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1026482268 |
P356 | DOI | 10.1186/S13023-015-0310-1 |
P932 | PMC publication ID | 4524368 |
P698 | PubMed publication ID | 26238698 |
P5875 | ResearchGate publication ID | 281816894 |
P50 | author | Kathryn Stowell | Q52145973 |
Anja H Schiemann | Q73905694 | ||
P2093 | author name string | Henry Rosenberg | |
Neil Pollock | |||
Terasa Bulger | |||
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Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels. | Q46695331 | ||
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia | Q46796424 | ||
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. | Q46801191 | ||
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility | Q47749572 | ||
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. | Q47834611 | ||
Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients. | Q47919022 | ||
Health worker exposure risk during inhalation sedation with sevoflurane using the (AnaConDa®) anaesthetic conserving device | Q47923256 | ||
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. | Q47933738 | ||
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TRPC3-interacting triadic proteins in skeletal muscle | Q33316168 | ||
The role of CACNA1S in predisposition to malignant hyperthermia | Q33510262 | ||
Ryanodine receptor mutations in malignant hyperthermia and central core disease | Q33903152 | ||
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Serotonin syndrome and other serotonergic disorders | Q33967265 | ||
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Abnormal intracellular ca(2+)homeostasis and disease | Q34003108 | ||
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RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes | Q34139686 | ||
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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 | Q34195030 | ||
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families | Q34216462 | ||
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle | Q34307851 | ||
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A clinical grading scale to predict malignant hyperthermia susceptibility | Q34329778 | ||
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Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing | Q34567866 | ||
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Muscle activity, pH and malignant hyperthermia. | Q51712413 | ||
Fatty acids markedly lower the threshold for halothane-induced calcium release from the terminal cisternae in human and porcine normal and malignant hyperthermia susceptible skeletal muscle. | Q51719802 | ||
Anesthesia in malignant hyperthermia susceptible patients. | Q51744327 | ||
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Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. | Q52573383 | ||
Anesthetic-induced malignant hyperpyrexia in children. | Q52729480 | ||
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Heat stroke and malignant hyperpyrexia | Q70378972 | ||
A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group | Q70639436 | ||
Malignant hyperthermia masked by capnographic monitoring | Q72246225 | ||
Should we use muscle biopsy to diagnose malignant hyperthermia susceptibility? | Q72860449 | ||
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility | Q73332927 | ||
Hemodynamic and metabolic alterations in response to graded exercise in a patient susceptible to malignant hyperthermia | Q73363900 | ||
Perioperative severe rhabdomyolysis revealing susceptibility to malignant hyperthermia | Q74110539 | ||
Dantrolene in malignant hyperthermia (MH)-susceptible patients with exaggerated exercise stress | Q74254707 | ||
Malignant hyperthermia | Q79074845 | ||
Malignant hyperthermia and central core disease causative mutations in Swedish patients | Q79324990 | ||
In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects | Q80016136 | ||
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia | Q81454581 | ||
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies | Q35221453 | ||
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype | Q35673620 | ||
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle | Q35704843 | ||
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness | Q35756769 | ||
Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage | Q35787753 | ||
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Mutations in RYR1 in malignant hyperthermia and central core disease | Q36569488 | ||
Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia | Q36615166 | ||
Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expression | Q36665389 | ||
The skeletal L-type Ca(2+) current is a major contributor to excitation-coupled Ca(2+) entry | Q37023260 | ||
Advanced technologies and devices for inhalational anesthetic drug dosing | Q37050418 | ||
A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice | Q37132911 | ||
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity | Q37142856 | ||
Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscle | Q37305499 | ||
Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke | Q37471099 | ||
Inhalational anesthesia vs total intravenous anesthesia (TIVA) for pediatric anesthesia. | Q37488453 | ||
Regulation of the skeletal muscle ryanodine receptor/Ca2+-release channel RyR1 by S-palmitoylation | Q37653345 | ||
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Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results | Q38088716 | ||
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands | Q38120619 | ||
Unexpected MH deaths without exposure to inhalation anesthetics in pediatric patients | Q38121132 | ||
Exertional heat stroke, rhabdomyolysis and susceptibility to malignant hyperthermia. | Q38134154 | ||
DNA testing for malignant hyperthermia: the reality and the dream | Q38180343 | ||
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 | Q38255512 | ||
Genetics professionals' opinions of whole-genome sequencing in the newborn period | Q39107529 | ||
Genetic counselors' views and experiences with the clinical integration of genome sequencing | Q39222177 | ||
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. | Q39266388 | ||
Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. | Q39704856 | ||
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. | Q39741966 | ||
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes | Q39887722 | ||
Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia | Q39978369 | ||
Characterization of recessive RYR1 mutations in core myopathies | Q40238382 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | malignant hyperthermia | Q1585081 |
P304 | page(s) | 93 | |
P577 | publication date | 2015-08-04 | |
P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
P1476 | title | Malignant hyperthermia: a review | |
P478 | volume | 10 |
Q90231956 | A Case Report of Suspected Malignant Hyperthermia: How Will the Diagnosis Affect a Patient's Insurability? |
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Q39353671 | A clinical review of inhalation anesthesia with sevoflurane: from early research to emerging topics |
Q89033581 | A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery |
Q90717797 | Abnormal calcium signalling and the caffeine-halothane contracture test |
Q100512261 | Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation |
Q38714784 | An approach to iatrogenic deaths |
Q56668469 | Anesthesia for patients with mutations: a case report |
Q38816760 | Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review |
Q42024571 | Assessing anesthetic activity through modulation of the membrane dipole potential. |
Q33755195 | Calcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases |
Q64120597 | Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes |
Q89629441 | Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients |
Q45869436 | Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. |
Q57455206 | Comparison of chlorantraniliprole and flubendiamide activity towards wild type and malignant hyperthermia-susceptible ryanodine receptors and heat stress intolerance |
Q30008804 | Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. |
Q39216231 | Counter-flow suggests transport of dantrolene and 5-OH dantrolene by the organic anion transporters 2 (OAT2) and 3 (OAT3). |
Q90615429 | Crystal structure of diamondback moth ryanodine receptor Repeat34 domain reveals insect-specific phosphorylation sites |
Q43083675 | Dantrolene requires Mg2+ to arrest malignant hyperthermia |
Q47251109 | Delayed Development of Malignant Hyperthermia Following Cardiopulmonary Bypass |
Q61453191 | Difficult airway management and suspected malignant hyperthermia in a Child with Cri Du Chat Syndrome |
Q90151314 | Early Recognition and Treatment of Malignant Hyperthermia in Pediatric Patient during Bronchoscopy |
Q39146069 | Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation |
Q92979212 | Febrile convulsions during recovery after anesthesia in an infant with history of MMR vaccination: A case report |
Q41781551 | Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia |
Q48222125 | Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia |
Q57113331 | Hyperthermia associated with biliary obstruction during living donor liver transplantation |
Q55119914 | Impact of Different Serum Potassium Levels on Postresuscitation Heart Function and Hemodynamics in Patients with Nontraumatic Out-of-Hospital Cardiac Arrest. |
Q59794833 | In vitro effects of levosimendan on muscle of malignant hyperthermia susceptible and non-susceptible swine |
Q57568708 | Inhalative Analgosedierung auf der Intensivstation |
Q92430344 | Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function |
Q94508917 | Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes |
Q48110785 | Intracellular thermometry with fluorescent sensors for thermal biology. |
Q90717865 | Is malignant hyperthermia associated with hyperglycaemia? |
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