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Items: 1 to 20 of 107

1.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
2.

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
3.

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
4.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

PMID:
27312022
5.

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
6.

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
7.

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

Kraeva N, Sapa A, Dowling JJ, Riazi S.

Can J Anaesth. 2017 Jul;64(7):736-743. doi: 10.1007/s12630-017-0865-5. Epub 2017 Mar 21. Review.

PMID:
28326467
8.

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

Musumeci O, Brady S, Rodolico C, Ciranni A, Montagnese F, Aguennouz M, Kirk R, Allen E, Godfrey R, Romeo S, Murphy E, Rahman S, Quinlivan R, Toscano A.

J Neurol. 2014 Dec;261(12):2424-8. doi: 10.1007/s00415-014-7512-7. Epub 2014 Sep 30.

PMID:
25267339
9.

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
10.

Idiopathic hyperCKemia and malignant hyperthermia susceptibility.

Santos JM, Andrade PV, Galleni L, Vainzof M, Sobreira CFR, Schmidt B, Oliveira ASB, Amaral JLG, Silva HCA.

Can J Anaesth. 2017 Dec;64(12):1202-1210. doi: 10.1007/s12630-017-0978-x. Epub 2017 Sep 26.

PMID:
28952030
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.

12.

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC.

JAMA Ophthalmol. 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392.

13.

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.

14.

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
15.

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

Anandan C, Cipriani MA, Laughlin RS, Niu Z, Milone M.

Eur J Neurol. 2018 Feb;25(2):417-419. doi: 10.1111/ene.13528. Epub 2017 Dec 26.

PMID:
29193480
16.

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M.

Muscle Nerve. 2014 Oct;50(4):610-3. doi: 10.1002/mus.24302. Epub 2014 Aug 30.

PMID:
24889862
17.

[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].

Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova I.

Anaesthesist. 2014 Sep;63(8-9):643-50. doi: 10.1007/s00101-014-2351-6. Epub 2014 Jul 23. German.

PMID:
25047158
18.

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
19.

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
20.

Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations.

Fiege M, Wappler F, Weisshorn R, Ulrich Gerbershagen M, Steinfath M, Schulte Am Esch J.

Anesthesiology. 2002 Aug;97(2):345-50.

PMID:
12151923

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