Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders

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Q58696990-33ED0183-D74B-4310-88DA-937543250A84

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

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Functional Characterization of ...... ease or Malignant Hyperthermia

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Functional Characterization of ...... ease or Malignant Hyperthermia

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Functional Characterization of ...... ease or Malignant Hyperthermia

@en

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Functional Characterization of ...... ease or Malignant Hyperthermia

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Andrew Bjorksten

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David Hutchinson

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Elaine Langton

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Kathryn M Stowell

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Neil Pollock

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Remai Parker

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Richard Roxburgh

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Robyn Gillies

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Terasa Bulger

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Central core disease

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Malignant hyperthermia: a review

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Using exome data to identify malignant hyperthermia susceptibility mutations.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.

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147-158

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scholarly article

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10.3233/JND-170210

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Anja H Schiemann

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2017-05-15T00:00:00Z

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28527222

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5467713

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

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P2093

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P433

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