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 *

247 related articles for article (PubMed ID: 8110459)

  • 1. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
    Chahine M; George AL; Zhou M; Ji S; Sun W; Barchi RL; Horn R
    Neuron; 1994 Feb; 12(2):281-94. PubMed ID: 8110459
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
    Ji S; George AL; Horn R; Barchi RL
    J Gen Physiol; 1996 Feb; 107(2):183-94. PubMed ID: 8833340
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.
    Mitrovic N; George AL; Rüdel R; Lehmann-Horn F; Lerche H
    Brain; 1999 Jun; 122 ( Pt 6)():1085-92. PubMed ID: 10356061
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.
    Fan Z; George AL; Kyle JW; Makielski JC
    J Physiol; 1996 Oct; 496 ( Pt 1)(Pt 1):275-86. PubMed ID: 8910215
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
    Plassart-Schiess E; Lhuillier L; George AL; Fontaine B; Tabti N
    J Physiol; 1998 Mar; 507 ( Pt 3)(Pt 3):721-7. PubMed ID: 9508833
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
    Bendahhou S; Cummins TR; Kwiecinski H; Waxman SG; Ptácek LJ
    J Physiol; 1999 Jul; 518 ( Pt 2)(Pt 2):337-44. PubMed ID: 10381583
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
    Bouhours M; Sternberg D; Davoine CS; Ferrer X; Willer JC; Fontaine B; Tabti N
    J Physiol; 2004 Feb; 554(Pt 3):635-47. PubMed ID: 14617673
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
    Yang N; Ji S; Zhou M; Ptácek LJ; Barchi RL; Horn R; George AL
    Proc Natl Acad Sci U S A; 1994 Dec; 91(26):12785-9. PubMed ID: 7809121
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
    Bouhours M; Luce S; Sternberg D; Willer JC; Fontaine B; Tabti N
    J Physiol; 2005 Jun; 565(Pt 2):415-27. PubMed ID: 15790667
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.
    Richmond JE; Featherstone DE; Ruben PC
    J Physiol; 1997 Mar; 499 ( Pt 3)(Pt 3):589-600. PubMed ID: 9130156
    [TBL] [Abstract][Full Text] [Related]  

  • 11. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
    Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
    J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states.
    Groome JR; Fujimoto E; George AL; Ruben PC
    J Physiol; 1999 May; 516 ( Pt 3)(Pt 3):687-98. PubMed ID: 10200418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.
    Lerche H; Mitrovic N; Dubowitz V; Lehmann-Horn F
    Ann Neurol; 1996 May; 39(5):599-608. PubMed ID: 8619545
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita.
    Featherstone DE; Fujimoto E; Ruben PC
    J Physiol; 1998 Feb; 506 ( Pt 3)(Pt 3):627-38. PubMed ID: 9503326
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
    Sasaki R; Takano H; Kamakura K; Kaida K; Hirata A; Saito M; Tanaka H; Kuzuhara S; Tsuji S
    Arch Neurol; 1999 Jun; 56(6):692-6. PubMed ID: 10369308
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.
    Mohammadi B; Mitrovic N; Lehmann-Horn F; Dengler R; Bufler J
    J Physiol; 2003 Mar; 547(Pt 3):691-8. PubMed ID: 12562902
    [TBL] [Abstract][Full Text] [Related]  

  • 17. From mutation to myotonia in sodium channel disorders.
    Cannon SC
    Neuromuscul Disord; 1997 Jun; 7(4):241-9. PubMed ID: 9196906
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
    Fleischhauer R; Mitrovic N; Deymeer F; Lehmann-Horn F; Lerche H
    Pflugers Arch; 1998 Oct; 436(5):757-65. PubMed ID: 9716710
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
    Tahmoush AJ; Schaller KL; Zhang P; Hyslop T; Heiman-Patterson T; Caldwell JH
    Neuromuscul Disord; 1994; 4(5-6):447-54. PubMed ID: 7533571
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
    El-Bizri N; Kahlig KM; Shyrock JC; George AL; Belardinelli L; Rajamani S
    Channels (Austin); 2011; 5(2):161-72. PubMed ID: 21317558
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.