Shaw MA - Search Results

1

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.

Endo Y, Groom L, Celik A, Kraeva N, Lee CS, Jung SY, Gardner L, Shaw MA, Hamilton SL, Hopkins PM, Dirksen RT, Riazi S, Dowling JJ. Endo Y, et al. Among authors: shaw ma. Nat Commun. 2022 Jun 13;13(1):3403. doi: 10.1038/s41467-022-31088-8. Nat Commun. 2022. PMID: 35697689 Free PMC article.

2

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. Robinson RL, et al. Among authors: shaw ma. Hum Mutat. 2002 Aug;20(2):88-97. doi: 10.1002/humu.10098. Hum Mutat. 2002. PMID: 12124989

3

Several interacting genes influence the malignant hyperthermia phenotype.

Robinson R, Hopkins P, Carsana A, Gilly H, Halsall J, Heytens L, Islander G, Jurkat-Rott K, Müller C, Shaw MA. Robinson R, et al. Among authors: shaw ma. Hum Genet. 2003 Feb;112(2):217-8. doi: 10.1007/s00439-002-0864-6. Epub 2002 Nov 15. Hum Genet. 2003. PMID: 12522565

4

Mutations in RYR1 in malignant hyperthermia and central core disease.

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

5

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

Carpenter D, Ismail A, Robinson RL, Ringrose C, Booms P, Iles DE, Halsall PJ, Steele D, Shaw MA, Hopkins PM. Carpenter D, et al. Among authors: shaw ma. Muscle Nerve. 2009 Oct;40(4):633-9. doi: 10.1002/mus.21397. Muscle Nerve. 2009. PMID: 19645060

6

The role of CACNA1S in predisposition to malignant hyperthermia.

Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. Carpenter D, et al. Among authors: shaw ma. BMC Med Genet. 2009 Oct 13;10:104. doi: 10.1186/1471-2350-10-104. BMC Med Genet. 2009. PMID: 19825159 Free PMC article.

7

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Fiszer D, Shaw MA, Fisher NA, Carr IM, Gupta PK, Watkins EJ, Roiz de Sa D, Kim JH, Hopkins PM. Fiszer D, et al. Among authors: shaw ma. Anesthesiology. 2015 May;122(5):1033-46. doi: 10.1097/ALN.0000000000000610. Anesthesiology. 2015. PMID: 25658027 Free PMC article.

8

In Reply.

Hopkins PM, Fiszer D, Shaw MA, Roiz de Sa D. Hopkins PM, et al. Among authors: shaw ma. Anesthesiology. 2016 Feb;124(2):511. doi: 10.1097/ALN.0000000000000980. Anesthesiology. 2016. PMID: 26785434 Free PMC article. No abstract available.

9

Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.

Nicoll Baines K, Ferreira C, Hopkins PM, Shaw MA, Hope IA. Nicoll Baines K, et al. Among authors: shaw ma. G3 (Bethesda). 2017 May 5;7(5):1451-1461. doi: 10.1534/g3.117.040535. G3 (Bethesda). 2017. PMID: 28325813 Free PMC article.

10

Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

Chang L, Daly C, Miller DM, Allen PD, Boyle JP, Hopkins PM, Shaw MA. Chang L, et al. Among authors: shaw ma. Br J Anaesth. 2019 May;122(5):613-621. doi: 10.1016/j.bja.2019.02.010. Epub 2019 Mar 20. Br J Anaesth. 2019. PMID: 30916033 Free PMC article.

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