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Items: 1 to 20 of 103

1.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Rendu J, Brocard J, Denarier E, Monnier N, Piétri-Rouxel F, Beley C, Roux-Buisson N, Gilbert-Dussardier B, Perez MJ, Romero N, Garcia L, Lunardi J, Fauré J, Fourest-Lieuvin A, Marty I.

Hum Gene Ther. 2013 Jul;24(7):702-13. doi: 10.1089/hum.2013.052.

2.

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Müller CR, Treves S.

Hum Mol Genet. 2001 Dec 1;10(25):2879-87.

3.

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Kraeva N, Zvaritch E, Rossi AE, Goonasekera SA, Zaid H, Frodis W, Kraev A, Dirksen RT, Maclennan DH, Riazi S.

Neuromuscul Disord. 2013 Feb;23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. Epub 2012 Nov 24.

4.

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Cuperman T, Fernandes SA, Lourenço NC, Yamamoto LU, Silva HC, Pavanello RC, Yamamoto GL, Zatz M, Oliveira AS, Vainzof M.

BMC Res Notes. 2014 Aug 1;7:487. doi: 10.1186/1756-0500-7-487.

5.

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
6.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

8.

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
9.

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Avila G, O'Brien JJ, Dirksen RT.

Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4215-20.

10.

Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.

Vega AV, Ramos-Mondragón R, Calderón-Rivera A, Zarain-Herzberg A, Avila G.

J Physiol. 2011 Oct 1;589(Pt 19):4649-69. doi: 10.1113/jphysiol.2011.210765. Epub 2011 Aug 8.

11.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F.

Am J Hum Genet. 2006 Nov;79(5):859-68. Epub 2006 Sep 21.

12.

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Zorzato F, Yamaguchi N, Xu L, Meissner G, Müller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S.

Hum Mol Genet. 2003 Feb 15;12(4):379-88.

13.

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.

15.

Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.

Xu L, Wang Y, Yamaguchi N, Pasek DA, Meissner G.

J Biol Chem. 2008 Mar 7;283(10):6321-9. doi: 10.1074/jbc.M707353200. Epub 2008 Jan 1.

16.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG.

Neuromuscul Disord. 2003 Feb;13(2):151-7.

PMID:
12565913
17.

Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Lefebvre R, Legrand C, Groom L, Dirksen RT, Jacquemond V.

PLoS One. 2013;8(1):e54042. doi: 10.1371/journal.pone.0054042. Epub 2013 Jan 7.

18.

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

Migita T, Mukaida K, Hamada H, Yasuda T, Haraki T, Nishino I, Murakami N, Kawamoto M.

J Anesth. 2009;23(3):341-6. doi: 10.1007/s00540-009-0746-3. Epub 2009 Aug 14.

PMID:
19685112
19.

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

Dirksen RT, Avila G.

Trends Cardiovasc Med. 2002 Jul;12(5):189-97. Review.

PMID:
12161072
20.

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

Attali R, Aharoni S, Treves S, Rokach O, Becker Cohen M, Fellig Y, Straussberg R, Dor T, Daana M, Mitrani-Rosenbaum S, Nevo Y.

PLoS One. 2013 Jul 24;8(7):e69296. doi: 10.1371/journal.pone.0069296. Print 2013.

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