241 related articles for article (PubMed ID: 25958340)
1. 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]
2. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12124989
[TBL] [Abstract][Full Text] [Related]
4.
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]
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. Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.
Parker R; Schiemann AH; Langton E; Bulger T; Pollock N; Bjorksten A; Gillies R; Hutchinson D; Roxburgh R; Stowell KM
J Neuromuscul Dis; 2017; 4(2):147-158. PubMed ID: 28527222
[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. A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
Taylor A; Lachlan K; Manners RM; Lotery AJ
J Clin Neurosci; 2012 Jan; 19(1):65-70. PubMed ID: 22030266
[TBL] [Abstract][Full Text] [Related]
9. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA; Wu S; Murayama K; Minami N; Ichihara Y; Kikuchi H; Noguchi S; Hayashi YK; Ochiai R; Nishino I
Anesthesiology; 2006 Jun; 104(6):1146-54. PubMed ID: 16732084
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Reduced threshold for store overload-induced Ca
Chen W; Koop A; Liu Y; Guo W; Wei J; Wang R; MacLennan DH; Dirksen RT; Chen SRW
Biochem J; 2017 Aug; 474(16):2749-2761. PubMed ID: 28687594
[TBL] [Abstract][Full Text] [Related]
12. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Brandt A; Schleithoff L; Jurkat-Rott K; Klingler W; Baur C; Lehmann-Horn F
Hum Mol Genet; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775
[TBL] [Abstract][Full Text] [Related]
13. Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
Murayama T; Kurebayashi N; Ogawa H; Yamazawa T; Oyamada H; Suzuki J; Kanemaru K; Oguchi K; Iino M; Sakurai T
Hum Mutat; 2016 Nov; 37(11):1231-1241. PubMed ID: 27586648
[TBL] [Abstract][Full Text] [Related]
14. Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
Rueffert H; Wehner M; Ogunlade V; Meinecke C; Schober R
Clin Neuropathol; 2009; 28(6):409-16. PubMed ID: 19919814
[TBL] [Abstract][Full Text] [Related]
15. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
McCarthy TV; Quane KA; Lynch PJ
Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
[TBL] [Abstract][Full Text] [Related]
16. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ; Küsters B; Eshuis L; Snoeck M; Lammens M; Heytens L; De Ridder W; Baets J; Scalco RS; Quinlivan R; Holton J; Bodi I; Wraige E; Radunovic A; von Landenberg C; Reimann J; Kamsteeg EJ; Sewry C; Jungbluth H; Voermans NC
J Neurol; 2019 Apr; 266(4):876-887. PubMed ID: 30788618
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].
Lunardi J; Monnier N
Rev Neurol (Paris); 2004 May; 160(5 Pt 2):S70-7. PubMed ID: 15269663
[TBL] [Abstract][Full Text] [Related]
19. Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.
Schiemann AH; Roesl C; Pollock N; Langton E; Bulger T; Stowell KM
J Neuromuscul Dis; 2020; 7(1):51-60. PubMed ID: 31903994
[TBL] [Abstract][Full Text] [Related]
20. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
Brown RL; Pollock AN; Couchman KG; Hodges M; Hutchinson DO; Waaka R; Lynch P; McCarthy TV; Stowell KM
Hum Mol Genet; 2000 Jun; 9(10):1515-24. PubMed ID: 10888602
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]