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The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.
Aging Cell. 2010 Dec;9(6):958-70. doi: 10.1111/j.1474-9726.2010.00623.x. Epub 2010 Oct 21.
Aging Cell. 2010.
PMID: 20961389
Free PMC article.
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.
Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagni S, Kraev A, Gramolini AO, Dirksen RT, Franzini-Armstrong C, Seidman CE, Seidman JG, Maclennan DH.
Zvaritch E, et al. Among authors: loy re.
Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42. doi: 10.1073/pnas.0709312104. Epub 2007 Nov 14.
Proc Natl Acad Sci U S A. 2007.
PMID: 18003898
Free PMC article.
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Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.
Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, Zvaritch E, MacLennan DH, Meissner G, Melzer W, Dirksen RT.
Loy RE, et al.
J Gen Physiol. 2011 Jan;137(1):43-57. doi: 10.1085/jgp.201010523. Epub 2010 Dec 13.
J Gen Physiol. 2011.
PMID: 21149547
Free PMC article.
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Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.
Loy RE, Lueck JD, Mostajo-Radji MA, Carrell EM, Dirksen RT.
Loy RE, et al.
PLoS One. 2012;7(11):e49757. doi: 10.1371/journal.pone.0049757. Epub 2012 Nov 12.
PLoS One. 2012.
PMID: 23152933
Free PMC article.
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Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H.
Zhou H, et al. Among authors: loy re.
Neuromuscul Disord. 2010 Mar;20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. Epub 2010 Jan 18.
Neuromuscul Disord. 2010.
PMID: 20080402
Free PMC article.
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Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+* calmodulins.
Fallon JL, Baker MR, Xiong L, Loy RE, Yang G, Dirksen RT, Hamilton SL, Quiocho FA.
Fallon JL, et al. Among authors: loy re.
Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5135-40. doi: 10.1073/pnas.0807487106. Epub 2009 Mar 11.
Proc Natl Acad Sci U S A. 2009.
PMID: 19279214
Free PMC article.
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