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Items: 1 to 20 of 108

1.

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

Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.

Hum Mutat. 2005 Nov;26(5):413-25.

PMID:
16163667
2.

Ryanodine receptor channelopathies.

Benkusky NA, Farrell EF, Valdivia HH.

Biochem Biophys Res Commun. 2004 Oct 1;322(4):1280-5. Review.

PMID:
15336975
3.

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.

Lyfenko AD, Goonasekera SA, Dirksen RT.

Biochem Biophys Res Commun. 2004 Oct 1;322(4):1256-66. Review.

PMID:
15336973
4.

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.

Ducreux S, Zorzato F, Müller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S.

J Biol Chem. 2004 Oct 15;279(42):43838-46. Epub 2004 Aug 8.

5.

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.

Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF.

Arch Neurol. 2004 Jan;61(1):106-13.

PMID:
14732627
6.

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
7.

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J.

Hum Mol Genet. 2003 May 15;12(10):1171-8.

PMID:
12719381
8.

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Zorzato F, Yamaguchi N, Xu L, Meissner G, Müller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S.

Hum Mol Genet. 2003 Feb 15;12(4):379-88.

PMID:
12566385
9.

Several interacting genes influence the malignant hyperthermia phenotype.

Robinson R, Hopkins P, Carsana A, Gilly H, Halsall J, Heytens L, Islander G, Jurkat-Rott K, Müller C, Shaw MA.

Hum Genet. 2003 Feb;112(2):217-8. Epub 2002 Nov 15.

PMID:
12522565
11.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F.

Neurology. 2002 Jul 23;59(2):284-7.

PMID:
12136074
12.

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
13.

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P.

Ann Neurol. 2002 Jun;51(6):750-9.

PMID:
12112081
14.

Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test.

Anetseder M, Hager M, Müller CR, Roewer N.

Lancet. 2002 May 4;359(9317):1579-80.

PMID:
12047971
15.

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.

Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Müller CR, Treves S.

Hum Mol Genet. 2001 Dec 1;10(25):2879-87.

PMID:
11741831
16.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J.

Hum Mol Genet. 2001 Oct 15;10(22):2581-92.

PMID:
11709545
17.

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
18.

Malignant hyperthermia and apparent heat stroke.

Tobin JR, Jason DR, Challa VR, Nelson TE, Sambuughin N.

JAMA. 2001 Jul 11;286(2):168-9. No abstract available.

PMID:
11448278
19.

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall WJ, Hopkins PM, Iles DE, West SP, Shaw MA.

Ann Hum Genet. 2000 Jul;64(Pt 4):307-20.

20.

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE.

Am J Hum Genet. 2001 Jul;69(1):204-8. Epub 2001 May 29.

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