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Items: 1 to 20 of 127

1.

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH.

Genomics. 1991 Nov;11(3):751-5.

PMID:
1774074
2.
3.

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.

Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH.

Genomics. 1992 Aug;13(4):1247-54.

PMID:
1354642
4.

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.

Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH.

Hum Mol Genet. 1994 Dec;3(12):2181-6.

PMID:
7881417
5.

The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.

MacLennan DH, Otsu K, Fujii J, Zorzato F, Phillips MS, O'Brien PJ, Archibald AL, Britt BA, Gillard EF, Worton RG.

Symp Soc Exp Biol. 1992;46:189-201. Review.

PMID:
1341035
6.

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J.

Anesthesiology. 1997 Mar;86(3):620-6.

PMID:
9066328
7.

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.

Hum Mol Genet. 2000 Jun 12;9(10):1515-24.

8.

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.

Hum Mol Genet. 1999 Oct;8(11):2055-62.

9.

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.

Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH.

Anesthesiology. 2003 Aug;99(2):297-302.

PMID:
12883402
10.

C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response.

Steinfath M, Singh S, Scholz J, Becker K, Lenzen C, Wappler F, Köchling A, Roewer N, Schulte am Esch J.

J Mol Med (Berl). 1995 Jan;73(1):35-40.

PMID:
7633940
12.

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG.

Nature. 1990 Feb 8;343(6258):559-61.

PMID:
1967823
13.

Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.

Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH.

Science. 1991 Jul 26;253(5018):448-51.

PMID:
1862346
14.

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

Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.

Hum Mutat. 2002 Aug;20(2):88-97.

PMID:
12124989
16.

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

Girard T, Urwyler A, Censier K, Mueller CR, Zorzato F, Treves S.

Hum Mutat. 2001 Oct;18(4):357-8.

PMID:
11668625
17.
18.

Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).

Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.

Anesthesiology. 2001 Sep;95(3):716-25.

PMID:
11575546
19.
20.

Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.

Otsu K, Phillips MS, Khanna VK, de Leon S, MacLennan DH.

Genomics. 1992 Jul;13(3):835-7.

PMID:
1639409
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