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Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met

Clinical neuropathology, 2009-11, Vol.28 (6), p.409

2009

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European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

British journal of anaesthesia : BJA, 2015-10, Vol.115 (4), p.531-539

2015

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Increased sensitivity to 4‐chloro‐m‐cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

Clinical genetics, 2002-08, Vol.62 (2), p.135-146

2002

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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

Acta anaesthesiologica Scandinavica, 2002-07, Vol.46 (6), p.692-698

2002

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Direct increase of the intracellular calcium concentration in porcine vascular smooth muscle cells by protamine: 9AP8-5

European journal of anaesthesiology, 2007-06, Vol.24 Suppl 39 (Supplement 39), p.126-127

2007

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Determination of the blood-gas partition coefficients for isoflurane, sevoflurane and desflurane: 9AP1-3

European journal of anaesthesiology, 2007-06, Vol.24 Suppl 39 (Supplement 39), p.108-108

2007

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Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

Human mutation, 2001-03, Vol.17 (3), p.238-238

2001

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Do Variations in the 5-HT3A and 5-HT3B Serotonin Receptor Genes (HTR3A and HTR3B) Influence the Occurrence of Postoperative Vomiting?

Anesthesia and analgesia, 2009-11, Vol.109 (5), p.1442-1447

2009

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Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

British Journal of Anaesthesia, 2001-08, Vol.87 (2), p.240-245

2001

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Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

Clinical genetics, 2001-08, Vol.60 (2), p.117-124

2001

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Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)

Human mutation, 2000-10, Vol.16 (4), p.376-376

2000

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Acta anaesthesiologica Scandinavica, 2003-04, Vol.47 (4), p.493-493

2003

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Acta anaesthesiologica Scandinavica, 2003-04, Vol.47 (4), p.493-493

2003

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Acta anaesthesiologica Scandinavica, 2003-04, Vol.47 (4), p.493-493

2003

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Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

Neuromuscular disorders : NMD, 2004-07, Vol.14 (7), p.429-437

2004

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Spontaneous occurrence of the disposition to malignant hyperthermia

Anesthesiology (Philadelphia), 2004-03, Vol.100 (3), p.731-733

2004

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Anaesthesia and cardiac contractility modulation

European journal of anaesthesiology, 2007-10, Vol.24 (10), p.819-825

2007

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Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

European journal of human genetics : EJHG, 2003-04, Vol.11 (4), p.342-348

2003

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A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.248-254

2004

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Comments on the guidelines of the European Malignant Hyperthermia Group on the availability of dantrolene for the management of malignant hyperthermia crises

Der Anaesthesist, 2020-10, Vol.69 (10), p.751-752

2020

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The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes

Cell calcium (Edinburgh), 2003-08, Vol.34 (2), p.163-168

2003

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Pharmacokinetics and clinical toxicity of prilocaine and ropivacaine following combined drug administration in brachial plexus anesthesia

International journal of clinical pharmacology and therapeutics, 2009-12, Vol.47 (12), p.733

2009

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Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala

Genetic testing, 2003-09, Vol.7 (3), p.203-211

2003

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Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia

Acta anaesthesiologica Scandinavica, 2003-04, Vol.47 (4), p.492-492

2003

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Homozygous and heterozygous Arg614Cys mutations (1840-->T) in the ryanodyne receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

British journal of anaesthesia : BJA, 2001-08, Vol.87 (2), p.240

2001

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Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

Increased sensitivity to 4‐chloro‐m‐cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

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

Direct increase of the intracellular calcium concentration in porcine vascular smooth muscle cells by protamine: 9AP8-5

Determination of the blood-gas partition coefficients for isoflurane, sevoflurane and desflurane: 9AP1-3

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

Do Variations in the 5-HT3A and 5-HT3B Serotonin Receptor Genes (HTR3A and HTR3B) Influence the Occurrence of Postoperative Vomiting?

Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)

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Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

Spontaneous occurrence of the disposition to malignant hyperthermia

Anaesthesia and cardiac contractility modulation

Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

Comments on the guidelines of the European Malignant Hyperthermia Group on the availability of dantrolene for the management of malignant hyperthermia crises

The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes

Pharmacokinetics and clinical toxicity of prilocaine and ropivacaine following combined drug administration in brachial plexus anesthesia

Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala

Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia

Homozygous and heterozygous Arg614Cys mutations (1840-->T) in the ryanodyne receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

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