Similar articles for PMID: 14732627

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1

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. Guis S, et al. Arch Neurol. 2004 Jan;61(1):106-13. doi: 10.1001/archneur.61.1.106. Arch Neurol. 2004. PMID: 14732627

2

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. Monnier N, et al. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667

3

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ. McCarthy TV, et al. Hum Mutat. 2000;15(5):410-7. doi: 10.1002/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10790202 Review.

4

Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.

Rueffert H, Wehner M, Ogunlade V, Meinecke C, Schober R. Rueffert H, et al. Clin Neuropathol. 2009 Nov-Dec;28(6):409-16. Clin Neuropathol. 2009. PMID: 19919814

5

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV. Quane KA, et al. Genomics. 1994 Sep 1;23(1):236-9. doi: 10.1006/geno.1994.1483. Genomics. 1994. PMID: 7829078

6

Genetic analysis with calcium-induced calcium release test in Japanese malignant hyperthermia susceptible (MHS) families.

Maehara Y, Mukaida K, Hiyama E, Morio M, Kawamoto M, Yuge O. Maehara Y, et al. Hiroshima J Med Sci. 1999 Mar;48(1):9-15. Hiroshima J Med Sci. 1999. PMID: 10213958

7

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Robinson R, et al. Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. Hum Mutat. 2006. PMID: 16917943 Review.

8

Central core disease is due to RYR1 mutations in more than 90% of patients.

Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Wu S, et al. Brain. 2006 Jun;129(Pt 6):1470-80. doi: 10.1093/brain/awl077. Epub 2006 Apr 18. Brain. 2006. PMID: 16621918

9

Malignant hyperthermia and central core disease causative mutations in Swedish patients.

Broman M, Islander G, Müller CR, Ranklev-Twetman E. Broman M, et al. Acta Anaesthesiol Scand. 2007 Jan;51(1):50-3. doi: 10.1111/j.1399-6576.2006.01165.x. Epub 2006 Nov 1. Acta Anaesthesiol Scand. 2007. PMID: 17081152

10

Core myopathies and risk of malignant hyperthermia.

Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM. Klingler W, et al. Anesth Analg. 2009 Oct;109(4):1167-73. doi: 10.1213/ANE.0b013e3181b5ae2d. Anesth Analg. 2009. PMID: 19762745 Review.

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