Genetics and pathogenesis of malignant hyperthermia

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Muscle and Nerve

• Publication date

  2000-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-DPMID 10590402
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
• Malignant hyperthermia and central core disease: disorders of Ca2+ release channels.

  1998cited by this paper
• Two Regions of the Ryanodine Receptor Involved in Coupling withl-Type Ca2+ Channels*

  1998cited by this paper
• Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

  1998cited by this paper
• King syndrome: further clinical variability and review of the literature.

  1998cited by this paper
• Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

  1998cited by this paper
• Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

  1998cited by this paper
• Voltage-dependent calcium release in human malignant hyperthermia muscle fibers.

  1998cited by this paper
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• Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

  1998cited by this paper
• Single-channel properties of the recombinant skeletal muscle Ca2+ release channel (ryanodine receptor).

  1997cited by this paper
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• Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.

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• 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*

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• Classification of Malignant Hyperthermia-Equivocal Patients by 4-Chloro-M-Cresol

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• Identification of Heterozygous and Homozygous Individuals with the Novel RYR1 Mutation Cys35Arg in a Large Kindred

  1997cited by this paper
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• A Region of the Ryanodine Receptor Critical for Excitation-Contraction Coupling in Skeletal Muscle*

  1997cited by this paper
• Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

  1997cited by this paper
• 4‐chloro‐m‐cresol test ‐ a possible supplementary test for diagnosis of malignant hyperthermia susceptibility

  1997cited by this paper
• Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle*

  1997cited by this paper
• The sarcoplasmic reticulum Ca2+ channel/ryanodine receptor: modulation by endogenous effectors, drugs and disease states.

  1997cited by this paper
• Reduced inhibitory effect of Mg2+ on ryanodine receptor-Ca2+ release channels in malignant hyperthermia.

  1997cited by this paper
• In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects

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• Comparison of the Segregation of the RYR1 C1840T Mutation with Segregation of the Caffeine/Halothane Contracture Test Results for Malignant Hyperthermia Susceptibility in a Large Manitoba Mennonite Family

  1996cited by this paper
• In Vitro Diagnosis of Malignant Hyperthermia Susceptibility with Ryanodine-Induced Contractures in Human Skeletal Muscles

  1996cited by this paper
• Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.

  1996cited by this paper
• 4-Chloro-m-cresol: a specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle.

  1996cited by this paper
• Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle.

  1996cited by this paper
• Chlorocresol, an Additive to Commercial Succinylcholine, Induces Contracture of Human Malignant Hyperthermia‐susceptible Muscles Via Activation of the Ryanodine Receptor Calcium sup 2+ Channel

  1996cited by this paper
• Malignant hyperthermia (MH) diagnostics: a comparison between the halothane‐caffeine‐and the ryanodine‐contracture‐test results in MH susceptible, normal and control muscle

  1996cited by this paper
• Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers

  1996cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
• Discordance between phenotype and genotype in malignant hyperthermia.

  1995cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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