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Results: 1 to 20 of 35

1.

Anaesthetic deaths in a family.

DENBOROUGH MA, FORSTER JF, LOVELL RR, MAPLESTONE PA, VILLIERS JD.

Br J Anaesth. 1962 Jun;34:395-6. No abstract available.

PMID:
13885389
[PubMed - indexed for MEDLINE]
2.

A new congenital non-progressive myopathy.

MAGEE KR, SHY GM.

Brain. 1956 Dec;79(4):610-21. No abstract available.

PMID:
13396066
[PubMed - indexed for MEDLINE]
3.

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV.

Hum Mutat. 1998;11(1):45-50. No abstract available.

PMID:
9450902
[PubMed - indexed for MEDLINE]
4.

Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy TV.

Br J Anaesth. 1997 Sep;79(3):332-7.

PMID:
9389851
[PubMed - indexed for MEDLINE]
Free Article
6.

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, Monsieurs K, Stieglitz P, Heytens L, Fricker R, van Broeckhoven C, Deufel T, Hopkins PM, Lunardi J, Mueller CR.

Hum Mol Genet. 1997 Jun;6(6):953-61.

PMID:
9175745
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV.

J Med Genet. 1997 Apr;34(4):291-6.

PMID:
9138151
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle.

O'Driscoll S, McCarthy TV, Eichinger HM, Erhardt W, Lehmann-Horn F, Herrmann-Frank A.

Biochem J. 1996 Oct 15;319 ( Pt 2):421-6.

PMID:
8912676
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH.

Genomics. 1996 May 15;34(1):24-41.

PMID:
8661021
[PubMed - indexed for MEDLINE]
11.

Functional expression of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum in COS-1 cells.

Chen SR, Vaughan DM, Airey JA, Coronado R, MacLennan DH.

Biochemistry. 1993 Apr 13;32(14):3743-53.

PMID:
8385488
[PubMed - indexed for MEDLINE]
12.

Phosphorylation of serine 2843 in ryanodine receptor-calcium release channel of skeletal muscle by cAMP-, cGMP- and CaM-dependent protein kinase.

Suko J, Maurer-Fogy I, Plank B, Bertel O, Wyskovsky W, Hohenegger M, Hellmann G.

Biochim Biophys Acta. 1993 Jan 17;1175(2):193-206.

PMID:
8380342
[PubMed - indexed for MEDLINE]
13.

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al.

Nat Genet. 1993 Sep;5(1):51-5.

PMID:
8220423
[PubMed - indexed for MEDLINE]
14.

A mutation in the human ryanodine receptor gene associated with central core disease.

Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH.

Nat Genet. 1993 Sep;5(1):46-50.

PMID:
8220422
[PubMed - indexed for MEDLINE]
15.

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.

Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al.

Hum Mol Genet. 1994 Mar;3(3):471-6.

PMID:
8012359
[PubMed - indexed for MEDLINE]
16.

Genetic effects on the variability of the halothane and caffeine muscle contracture tests.

Urwyler A, Censier K, Kaufmann MA, Drewe J.

Anesthesiology. 1994 Jun;80(6):1287-95.

PMID:
8010475
[PubMed - indexed for MEDLINE]
Free Article
17.

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al.

Hum Mol Genet. 1994 Jun;3(6):969-75.

PMID:
7951247
[PubMed - indexed for MEDLINE]
18.

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G, et al.

Am J Hum Genet. 1995 Mar;56(3):684-91.

PMID:
7887423
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.

Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al.

Hum Mol Genet. 1994 Oct;3(10):1855-8.

PMID:
7849712
[PubMed - indexed for MEDLINE]

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