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Items: 1 to 20 of 31

1.

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Vladutiu GD, Isackson PJ, Kaufman K, Harley JB, Cobb B, Christopher-Stine L, Wortmann RL.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. Epub 2011 Jul 12.

2.

Core myopathies and malignant hyperthermia susceptibility: a review.

Brislin RP, Theroux MC.

Paediatr Anaesth. 2013 Sep;23(9):834-41. doi: 10.1111/pan.12175. Epub 2013 Apr 25. Review.

PMID:
23617272
3.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.

PMID:
10790202
4.

[Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].

Lunardi J, Monnier N.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S70-7. Review. French.

PMID:
15269663
5.

Core myopathies and risk of malignant hyperthermia.

Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM.

Anesth Analg. 2009 Oct;109(4):1167-73. doi: 10.1213/ANE.0b013e3181b5ae2d. Review.

PMID:
19762745
6.

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T.

Muscle Nerve. 2011 Jul;44(1):102-8. doi: 10.1002/mus.22009. Review.

PMID:
21674524
7.

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PMID:
16917943
8.

PharmGKB summary: very important pharmacogene information for RYR1.

Alvarellos ML, Krauss RM, Wilke RA, Altman RB, Klein TE.

Pharmacogenet Genomics. 2016 Mar;26(3):138-44. doi: 10.1097/FPC.0000000000000198. Review. No abstract available.

9.
10.

Genetic predisposition to statin myopathy.

Vladutiu GD.

Curr Opin Rheumatol. 2008 Nov;20(6):648-55. doi: 10.1097/BOR.0b013e328314b7b4. Review.

PMID:
18946323
11.

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

Mathews KD, Moore SA.

Arch Neurol. 2004 Jan;61(1):27-9. Review. No abstract available.

PMID:
14732615
12.

Malignant hyperthermia.

Bandschapp O, Girard T.

Swiss Med Wkly. 2012 Jul 31;142:w13652. doi: 10.4414/smw.2012.13652. Review.

13.

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

Treves S, Jungbluth H, Muntoni F, Zorzato F.

Curr Opin Pharmacol. 2008 Jun;8(3):319-26. doi: 10.1016/j.coph.2008.01.005. Epub 2008 Mar 4. Review.

PMID:
18313359
14.

Malignant hyperthermia.

Rosenberg H, Davis M, James D, Pollock N, Stowell K.

Orphanet J Rare Dis. 2007 Apr 24;2:21. Review.

15.

Malignant hyperthermia and associated disorders.

Allen GC.

Curr Opin Rheumatol. 1993 Nov;5(6):719-24. Review.

PMID:
8117533
16.

DNA testing for malignant hyperthermia: the reality and the dream.

Stowell KM.

Anesth Analg. 2014 Feb;118(2):397-406. doi: 10.1213/ANE.0000000000000063. Review.

PMID:
24445638
17.

The genetics of statin-induced myopathy.

Ghatak A, Faheem O, Thompson PD.

Atherosclerosis. 2010 Jun;210(2):337-43. doi: 10.1016/j.atherosclerosis.2009.11.033. Epub 2009 Nov 27. Review.

PMID:
20042189
18.

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.

Voermans NC, Snoeck M, Jungbluth H.

Rev Neurol (Paris). 2016 Oct;172(10):546-558. doi: 10.1016/j.neurol.2016.07.018. Epub 2016 Sep 20. Review.

PMID:
27663056
19.

Iatrogenic myopathies.

Mastaglia FL.

Curr Opin Neurol. 2010 Oct;23(5):445-9. doi: 10.1097/WCO.0b013e32833c2054. Review.

PMID:
20581681
20.

Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Riazi S, Kraeva N, Hopkins PM.

Anesthesiology. 2018 Jan;128(1):168-180. doi: 10.1097/ALN.0000000000001878. Review.

PMID:
28902675

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