These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 20461000)

  • 1. Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.
    Sato K; Pollock N; Stowell KM
    Anesthesiology; 2010 Jun; 112(6):1350-4. PubMed ID: 20461000
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
    Vukcevic M; Broman M; Islander G; Bodelsson M; Ranklev-Twetman E; Müller CR; Treves S
    Anesth Analg; 2010 Jul; 111(1):185-90. PubMed ID: 20142353
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
    Sato K; Roesl C; Pollock N; Stowell KM
    Anesthesiology; 2013 Jul; 119(1):111-8. PubMed ID: 23459219
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia.
    Anderson AA; Brown RL; Polster B; Pollock N; Stowell KM
    Anesthesiology; 2008 Feb; 108(2):208-15. PubMed ID: 18212565
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel ryanodine receptor mutation that may cause malignant hyperthermia.
    Kaufmann A; Kraft B; Michalek-Sauberer A; Weigl LG
    Anesthesiology; 2008 Sep; 109(3):457-64. PubMed ID: 18719443
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Increasing the number of diagnostic mutations in malignant hyperthermia.
    Levano S; Vukcevic M; Singer M; Matter A; Treves S; Urwyler A; Girard T
    Hum Mutat; 2009 Apr; 30(4):590-8. PubMed ID: 19191329
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
    Wehner M; Rueffert H; Koenig F; Olthoff D
    Neuromuscul Disord; 2004 Jul; 14(7):429-37. PubMed ID: 15210166
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
    Monnier N; Kozak-Ribbens G; Krivosic-Horber R; Nivoche Y; Qi D; Kraev N; Loke J; Sharma P; Tegazzin V; Figarella-Branger D; Roméro N; Mezin P; Bendahan D; Payen JF; Depret T; Maclennan DH; Lunardi J
    Hum Mutat; 2005 Nov; 26(5):413-25. PubMed ID: 16163667
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
    Haraki T; Yasuda T; Mukaida K; Migita T; Hamada H; Kawamoto M
    Anesth Analg; 2011 Dec; 113(6):1461-7. PubMed ID: 21926372
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
    Zullo A; Klingler W; De Sarno C; Ferrara M; Fortunato G; Perrotta G; Gravino E; Di Noto R; Lehmann-Horn F; Melzer W; Salvatore F; Carsana A
    Hum Mutat; 2009 Apr; 30(4):E575-90. PubMed ID: 19191333
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.
    Kaufmann A; Kraft B; Michalek-Sauberer A; Weindlmayr M; Kress HG; Steinboeck F; Weigl LG
    Anesth Analg; 2012 May; 114(5):1017-25. PubMed ID: 22415532
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
    Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F
    Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.
    Censier K; Urwyler A; Zorzato F; Treves S
    J Clin Invest; 1998 Mar; 101(6):1233-42. PubMed ID: 9502764
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1).
    Du GG; Oyamada H; Khanna VK; MacLennan DH
    Biochem J; 2001 Nov; 360(Pt 1):97-105. PubMed ID: 11695996
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.
    Roesl C; Sato K; Schiemann A; Pollock N; Stowell KM
    Cell Calcium; 2014 Sep; 56(3):195-201. PubMed ID: 25086907
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle].
    Monnier N; Lunardi J
    Ann Biol Clin (Paris); 2000; 58(2):147-56. PubMed ID: 10760701
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
    Treves S; Anderson AA; Ducreux S; Divet A; Bleunven C; Grasso C; Paesante S; Zorzato F
    Neuromuscul Disord; 2005 Oct; 15(9-10):577-87. PubMed ID: 16084090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.
    Phillips MS; Fujii J; Khanna VK; DeLeon S; Yokobata K; de Jong PJ; MacLennan DH
    Genomics; 1996 May; 34(1):24-41. PubMed ID: 8661021
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.