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Items: 1 to 20 of 117

1.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.

Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.

PMID:
23628358
2.

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
3.

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.

Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S.

Clin Genet. 2009 Dec;76(6):564-8. doi: 10.1111/j.1399-0004.2009.01251.x. Epub 2009 Oct 6.

PMID:
19807743
4.

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

Davis M, Brown R, Dickson A, Horton H, James D, Laing N, Marston R, Norgate M, Perlman D, Pollock N, Stowell K.

Br J Anaesth. 2002 Apr;88(4):508-15.

PMID:
12066726
5.

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Poussel M, Guerci P, Kaminsky P, Heymonet M, Roux-Buisson N, Faure J, Fronzaroli E, Chenuel B.

J Athl Train. 2015 Nov;50(11):1212-4. doi: 10.4085/1062-6050-50.12.01. Epub 2015 Nov 13.

6.
7.

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S.

Neuromuscul Disord. 2015 Jul;25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. Epub 2015 Apr 27.

PMID:
25958340
8.
9.

Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.

Michelucci A, Paolini C, Boncompagni S, Canato M, Reggiani C, Protasi F.

FASEB J. 2017 Aug;31(8):3649-3662. doi: 10.1096/fj.201601292R. Epub 2017 May 2.

10.

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
11.

Genetic variation in RYR1 and malignant hyperthermia phenotypes.

Carpenter D, Robinson RL, Quinnell RJ, Ringrose C, Hogg M, Casson F, Booms P, Iles DE, Halsall PJ, Steele DS, Shaw MA, Hopkins PM.

Br J Anaesth. 2009 Oct;103(4):538-48. doi: 10.1093/bja/aep204. Epub 2009 Jul 31.

PMID:
19648156
12.

North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.

Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM.

Anesthesiology. 2001 Sep;95(3):594-9.

PMID:
11575529
13.

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.

Anesthesiology. 2006 Jun;104(6):1146-54.

PMID:
16732084
14.

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H.

J Neurol. 2013 Jun;260(6):1504-10. doi: 10.1007/s00415-012-6817-7. Epub 2013 Jan 18.

PMID:
23329375
15.

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Brandom BW, Bina S, Wong CA, Wallace T, Visoiu M, Isackson PJ, Vladutiu GD, Sambuughin N, Muldoon SM.

Anesth Analg. 2013 May;116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. Epub 2013 Apr 4.

16.

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
17.

[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].

Lee H, Kim DC, Lee JH, Cho YG, Lee HS, Choi SI, Kim DS.

Korean J Lab Med. 2010 Dec;30(6):702-10. doi: 10.3343/kjlm.2010.30.6.702. Korean.

18.

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ.

Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11.

PMID:
25960145
19.

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
20.

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Riazi S, Kraeva N, Muldoon SM, Dowling J, Ho C, Petre MA, Parness J, Dirksen RT, Rosenberg H.

Can J Anaesth. 2014 Nov;61(11):1040-9. doi: 10.1007/s12630-014-0227-5. Epub 2014 Sep 5.

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