136 related articles for article (PubMed ID: 38582058)
1. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Clayton JS; Vo C; Crane J; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL
Stem Cell Res; 2024 Jun; 77():103411. PubMed ID: 38582058
[TBL] [Abstract][Full Text] [Related]
2. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS; Vo C; Crane J; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL
Stem Cell Res; 2024 Jun; 77():103410. PubMed ID: 38583293
[TBL] [Abstract][Full Text] [Related]
3. Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K; Vo C; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL; Clayton JS
Stem Cell Res; 2023 Dec; 73():103258. PubMed ID: 38029555
[TBL] [Abstract][Full Text] [Related]
4. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Kraeva N; Heytens L; Jungbluth H; Treves S; Voermans N; Kamsteeg E; Ceuterick-de Groote C; Baets J; Riazi S
Neuromuscul Disord; 2015 Jul; 25(7):567-76. PubMed ID: 25958340
[TBL] [Abstract][Full Text] [Related]
5. 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; 9(18):2599-608. PubMed ID: 11063719
[TBL] [Abstract][Full Text] [Related]
6. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A; Cassandrini D; Fiorillo C; Codemo V; Astrea G; D'Amico A; Maggi L; Magri F; Pane M; Tasca G; Sabbatini D; Bello L; Battini R; Bernasconi P; Fattori F; Bertini ES; Comi G; Messina S; Mongini T; Moroni I; Panicucci C; Berardinelli A; Donati A; Nigro V; Pini A; Giannotta M; Dosi C; Ricci E; Mercuri E; Minervini G; Tosatto S; Santorelli F; Bruno C; Pegoraro E
Acta Neuropathol Commun; 2022 Apr; 10(1):54. PubMed ID: 35428369
[TBL] [Abstract][Full Text] [Related]
7. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Jungbluth H; Lillis S; Zhou H; Abbs S; Sewry C; Swash M; Muntoni F
Neuromuscul Disord; 2009 May; 19(5):344-7. PubMed ID: 19303294
[TBL] [Abstract][Full Text] [Related]
8. Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S; Ibarra MC; Malicdan MC; Murayama K; Ichihara Y; Kikuchi H; Nonaka I; Noguchi S; Hayashi YK; Nishino I
Brain; 2006 Jun; 129(Pt 6):1470-80. PubMed ID: 16621918
[TBL] [Abstract][Full Text] [Related]
9. 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; 283(10):6321-9. PubMed ID: 18171678
[TBL] [Abstract][Full Text] [Related]
10.
Zullo A; Perrotta G; D'Angelo R; Ruggiero L; Gravino E; Del Vecchio L; Santoro L; Salvatore F; Carsana A
Biomed Res Int; 2019; 2019():7638946. PubMed ID: 31165076
[TBL] [Abstract][Full Text] [Related]
11. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
Treves S; Jungbluth H; Muntoni F; Zorzato F
Curr Opin Pharmacol; 2008 Jun; 8(3):319-26. PubMed ID: 18313359
[TBL] [Abstract][Full Text] [Related]
12. Novel RYR1 missense mutations in six Chinese patients with central core disease.
Gu M; Zhang S; Hu J; Yuan Y; Wang Z; Da Y; Wu S
Neurosci Lett; 2014 Apr; 566():32-5. PubMed ID: 24561095
[TBL] [Abstract][Full Text] [Related]
13. Central core myopathy with autophagy.
Cotta A; Paim JF; Pavanello RCM; Nogueira L; Leão LG; Xavier-Neto R; Navarro MM; Carvalho E; Valicek J; Silveira EB; Takata RI; Vainzof M
Muscle Nerve; 2017 Aug; 56(2):E8-E9. PubMed ID: 28164363
[No Abstract] [Full Text] [Related]
14. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N; Romero NB; Lerale J; Landrieu P; Nivoche Y; Fardeau M; Lunardi J
Hum Mol Genet; 2001 Oct; 10(22):2581-92. PubMed ID: 11709545
[TBL] [Abstract][Full Text] [Related]
15. 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(18):2791-803. PubMed ID: 16940308
[TBL] [Abstract][Full Text] [Related]
16. Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
Herasse M; Parain K; Marty I; Monnier N; Kaindl AM; Leroy JP; Richard P; Lunardi J; Romero NB; Ferreiro A
J Neuropathol Exp Neurol; 2007 Jan; 66(1):57-65. PubMed ID: 17204937
[TBL] [Abstract][Full Text] [Related]
17. Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.
Zhao Y; Hu J; Zhao Z; Shen H; Bing Q; Li N
Muscle Nerve; 2016 Sep; 54(3):432-8. PubMed ID: 26799446
[TBL] [Abstract][Full Text] [Related]
18. In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L; Petiot A; Brocard J; Giannesini B; Giovannini D; Sanchez C; Travard L; Chivet M; Beaufils M; Kutchukian C; Bendahan D; Metzger D; Franzini Armstrong C; Romero NB; Rendu J; Jacquemond V; Fauré J; Marty I
Acta Neuropathol Commun; 2020 Nov; 8(1):192. PubMed ID: 33176865
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16917943
[TBL] [Abstract][Full Text] [Related]
20. 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; 10(25):2879-87. PubMed ID: 11741831
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]