Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population (Q46051563)

19 December 2017

title

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population (English)

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19 December 2017

main subject

malignant hyperthermia

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Natasha Kraeva

1

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19 December 2017

Sheila Riazi

2

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19 December 2017

Julian Loke

3

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19 December 2017

Wanda Frodis

4

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19 December 2017

Mary Lou Crossan

5

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19 December 2017

Kevin Nolan

6

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19 December 2017

Alexander Kraev

7

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19 December 2017

David H Maclennan

8

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19 December 2017

publication date

31 March 2011

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19 December 2017

Canadian Journal of Anaesthesia

published in

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19 December 2017

volume

58

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19 December 2017

issue

6

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19 December 2017

page(s)

504-513

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19 December 2017

Malignant hyperthermia: aetiology unknown

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Anaesthetic deaths in a family

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Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

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21 January 2018

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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

21 January 2018

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Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

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Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

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A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene

21 January 2018

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The role of CACNA1S in predisposition to malignant hyperthermia

21 January 2018

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21 January 2018

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Genetic variation in RYR1 and malignant hyperthermia phenotypes

21 January 2018

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A clinical grading scale to predict malignant hyperthermia susceptibility

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

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Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene

21 January 2018

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

21 January 2018

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The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Characterization of Recombinant Skeletal Muscle (Ser-2843) and Cardiac Muscle (Ser-2809) Ryanodine Receptor Phosphorylation Mutants

21 January 2018

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PKA phosphorylation activates the calcium release channel (ryanodine receptor) in skeletal muscle: defective regulation in heart failure

21 January 2018

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RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

21 January 2018

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RyR1/RyR3 chimeras reveal that multiple domains of RyR1 are involved in skeletal-type E-C coupling

21 January 2018

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Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

21 January 2018

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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

21 January 2018

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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

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19 December 2017

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19 December 2017