176 related articles for article (PubMed ID: 37510264)
1. Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in
Andrade PV; Santos JM; Teixeira ACB; Sogari VF; Almeida MS; Callegari FM; Krepischi ACV; Oliveira ASB; Vainzof M; Silva HCA
Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510264
[TBL] [Abstract][Full Text] [Related]
2. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA; Wires ES; Terry NL; Dowling JJ; Todd JJ
Orphanet J Rare Dis; 2020 May; 15(1):113. PubMed ID: 32381029
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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. PubMed ID: 12124989
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Løseth S; Voermans NC; Torbergsen T; Lillis S; Jonsrud C; Lindal S; Kamsteeg EJ; Lammens M; Broman M; Dekomien G; Maddison P; Muntoni F; Sewry C; Radunovic A; de Visser M; Straub V; van Engelen B; Jungbluth H
J Neurol; 2013 Jun; 260(6):1504-10. PubMed ID: 23329375
[TBL] [Abstract][Full Text] [Related]
8. RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M; van Engelen BG; Küsters B; Lammens M; Meijer R; Molenaar JP; Raaphorst J; Verschuuren-Bemelmans CC; Straathof CS; Sie LT; de Coo IF; van der Pol WL; de Visser M; Scheffer H; Treves S; Jungbluth H; Voermans NC; Kamsteeg EJ
Eur J Neurol; 2015 Jul; 22(7):1094-112. PubMed ID: 25960145
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
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. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.
Helbling DC; Mendoza D; McCarrier J; Vanden Avond MA; Harmelink MM; Barkhaus PE; Basel D; Lawlor MW
J Neuropathol Exp Neurol; 2019 Mar; 78(3):283-287. PubMed ID: 30715496
[TBL] [Abstract][Full Text] [Related]
13. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H; Olthoff D; Deutrich C; Schober R; Froster UG
Am J Med Genet A; 2004 Jan; 124A(3):248-54. PubMed ID: 14708096
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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]
17. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST; Oliveira J; Santos R; Pereira P; Barroso C; Conceição I; Evangelista T
Muscle Nerve; 2011 Jul; 44(1):102-8. PubMed ID: 21674524
[TBL] [Abstract][Full Text] [Related]
18. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations.
Fiege M; Wappler F; Weisshorn R; Ulrich Gerbershagen M; Steinfath M; Schulte Am Esch J
Anesthesiology; 2002 Aug; 97(2):345-50. PubMed ID: 12151923
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States.
Larach MG; Brandom BW; Allen GC; Gronert GA; Lehman EB
Anesth Analg; 2014 Dec; 119(6):1359-66. PubMed ID: 25268394
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
