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Items: 1 to 20 of 27

1.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149.x.

PMID:
21062345
2.

RYR1 mutations are a common cause of congenital myopathies with central nuclei.

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H.

Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119.

3.

Administration of ondansetron is associated with lethal outcome.

Gener B, Burns JM, Griffin S, Boyer EW.

Pediatrics. 2010 Jun;125(6):e1514-7. doi: 10.1542/peds.2009-2795. Epub 2010 May 3.

PMID:
20439600
4.

The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia.

Capacchione JF, Muldoon SM.

Anesth Analg. 2009 Oct;109(4):1065-9. doi: 10.1213/ane.0b013e3181a9d8d9. Epub 2009 Jul 17. Review.

PMID:
19617585
5.

Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility.

Robinson RL, Carpenter D, Halsall PJ, Iles DE, Booms P, Steele D, Hopkins PM, Shaw MA.

Br J Anaesth. 2009 Aug;103(2):220-5. doi: 10.1093/bja/aep108. Epub 2009 May 19.

6.

Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature.

Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, Suzuki K.

Leg Med (Tokyo). 2009 May;11(3):142-3. doi: 10.1016/j.legalmed.2008.12.004. Epub 2009 Feb 14.

PMID:
19223216
7.

Ryanodine receptor structure: progress and challenges.

Hamilton SL, Serysheva II.

J Biol Chem. 2009 Feb 13;284(7):4047-51. doi: 10.1074/jbc.R800054200. Epub 2008 Oct 16. Review. No abstract available.

8.

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

D'Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, Shield LK, Ryan MM.

Neurology. 2008 Sep 2;71(10):776-7. doi: 10.1212/01.wnl.0000324929.33780.2f. No abstract available.

PMID:
18765655
9.

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F.

Brain. 2007 Aug;130(Pt 8):2024-36. Epub 2007 May 4.

PMID:
17483490
10.

Characterization of recessive RYR1 mutations in core myopathies.

Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S.

Hum Mol Genet. 2006 Sep 15;15(18):2791-803. Epub 2006 Aug 29. Erratum in: Hum Mol Genet. 2007 May 15;16(10):1269.

PMID:
16940308
11.

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
12.

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG.

Anesthesiology. 2005 Mar;102(3):515-21.

PMID:
15731587
13.

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.

Sei Y, Sambuughin NN, Davis EJ, Sachs D, Cuenca PB, Brandom BW, Tautz T, Rosenberg H, Nelson TE, Muldoon SM.

Anesthesiology. 2004 Oct;101(4):824-30.

PMID:
15448513
14.
16.

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
17.

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

Du GG, Sandhu B, Khanna VK, Guo XH, MacLennan DH.

Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16725-30. Epub 2002 Dec 16.

18.

Three-dimensional reconstruction of the recombinant type 2 ryanodine receptor and localization of its divergent region 1.

Liu Z, Zhang J, Li P, Chen SR, Wagenknecht T.

J Biol Chem. 2002 Nov 29;277(48):46712-9. Epub 2002 Sep 24.

19.

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.

Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG.

Neuromuscul Disord. 2001 Sep;11(6-7):530-7.

PMID:
11525881

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