scholarly article | Q13442814 |
P5530 | Altmetric DOI | 10.1093/BJA/AEX042 |
P6179 | Dimensions Publication ID | 1083930721 |
P356 | DOI | 10.1093/BJA/AEX042 |
P953 | full work available at URL | http://eprints.whiterose.ac.uk/110663 |
P6366 | Microsoft Academic ID | 2606831988 |
P932 | PMC publication ID | 6906626 |
P698 | PubMed publication ID | 28403410 |
P1154 | Scopus EID | 2-s2.0-85019183680 |
P2093 | author name string | D M Miller | |
P D Allen | |||
C Daly | |||
P M Hopkins | |||
A Merritt | |||
D S Steele | |||
P Booms | |||
M-A Shaw | |||
J G Bilmen | |||
K M Stowell | |||
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Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families | Q30426901 | ||
Using exome data to identify malignant hyperthermia susceptibility mutations | Q30689554 | ||
The role of CACNA1S in predisposition to malignant hyperthermia | Q33510262 | ||
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor | Q34252541 | ||
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. | Q34327401 | ||
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia | Q34669941 | ||
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness | Q35756769 | ||
Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor | Q36436381 | ||
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease | Q36460971 | ||
Mutations in RYR1 in malignant hyperthermia and central core disease | Q36569488 | ||
Malignant hyperthermia: pharmacology of triggering | Q37882233 | ||
A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family | Q38494827 | ||
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. | Q39266388 | ||
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Increasing the number of diagnostic mutations in malignant hyperthermia. | Q39887727 | ||
A tunable genetic switch based on RNAi and repressor proteins for regulating gene expression in mammalian cells | Q40100735 | ||
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. | Q40984666 | ||
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease | Q41087094 | ||
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes | Q41996021 | ||
Genetic variation in RYR1 and malignant hyperthermia phenotypes | Q43300337 | ||
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Several interacting genes influence the malignant hyperthermia phenotype. | Q44274839 | ||
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Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model | Q44946701 | ||
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Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. | Q47933738 | ||
Multiple interacting gene products may influence susceptibility to malignant hyperthermia. | Q51354595 | ||
An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia. | Q51547927 | ||
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Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells | Q86267085 | ||
P4510 | describes a project that uses | ImageJ | Q1659584 |
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P1104 | number of pages | 11 | |
P304 | page(s) | 533-543 | |
P577 | publication date | 2017-04-01 | |
P1433 | published in | British Journal of Anaesthesia | Q72466 |
P1476 | title | Assessing the pathogenicity of RYR1 variants in malignant hyperthermia | |
P478 | volume | 118 |
Q90717797 | Abnormal calcium signalling and the caffeine-halothane contracture test |
Q41781551 | Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia |
Q59882254 | Genetic epidemiology of malignant hyperthermia in the UK |
Q57640462 | Identification of Misclassified ClinVar Variants via Disease Population Prevalence |
Q90426273 | Junctional membrane Ca2+ dynamics in human muscle fibers are altered by malignant hyperthermia causative RyR mutation |
Q94544834 | Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019 |
Q64267769 | The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations |
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