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 *

178 related articles for article (PubMed ID: 9339683)

  • 1. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
    Wagner S; Lerche H; Mitrovic N; Heine R; George AL; Lehmann-Horn F
    Neurology; 1997 Oct; 49(4):1018-25. PubMed ID: 9339683
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.
    Hayward LJ; Brown RH; Cannon SC
    Biophys J; 1997 Mar; 72(3):1204-19. PubMed ID: 9138567
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
    Bendahhou S; Cummins TR; Tawil R; Waxman SG; Ptácek LJ
    J Neurosci; 1999 Jun; 19(12):4762-71. PubMed ID: 10366610
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
    Ptacek LJ; Gouw L; Kwieciński H; McManis P; Mendell JR; Barohn RJ; George AL; Barchi RL; Robertson M; Leppert MF
    Ann Neurol; 1993 Mar; 33(3):300-7. PubMed ID: 8388676
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.
    Kelly P; Yang WS; Costigan D; Farrell MA; Murphy S; Hardiman O
    Neuromuscul Disord; 1997 Mar; 7(2):105-11. PubMed ID: 9131651
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.
    Bendahhou S; Cummins TR; Kula RW; Fu YH; Ptácek LJ
    Neurology; 2002 Apr; 58(8):1266-72. PubMed ID: 11971097
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis.
    Weckbecker K; Würz A; Mohammadi B; Mansuroglu T; George AL; Lerche H; Dengler R; Lehmann-Horn F; Mitrovic N
    Neuromuscul Disord; 2000 Jan; 10(1):31-9. PubMed ID: 10677861
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
    Ptáĉek LJ; Tawil R; Griggs RC; Meola G; McManis P; Barohn RJ; Mendell JR; Harris C; Spitzer R; Santiago F
    Neurology; 1994 Aug; 44(8):1500-3. PubMed ID: 8058156
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.
    Mitrović N; George AL; Lerche H; Wagner S; Fahlke C; Lehmann-Horn F
    J Physiol; 1995 Aug; 487(1):107-14. PubMed ID: 7473241
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
    Plassart E; Reboul J; Rime CS; Recan D; Millasseau P; Eymard B; Pelletier J; Thomas C; Chapon F; Desnuelle C
    Eur J Hum Genet; 1994; 2(2):110-24. PubMed ID: 8044656
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis.
    Cummins TR; Zhou J; Sigworth FJ; Ukomadu C; Stephan M; Ptácek LJ; Agnew WS
    Neuron; 1993 Apr; 10(4):667-78. PubMed ID: 8386527
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
    Takahashi MP; Cannon SC
    Biophys J; 1999 Feb; 76(2):861-8. PubMed ID: 9929487
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
    Wu FF; Gordon E; Hoffman EP; Cannon SC
    J Physiol; 2005 Jun; 565(Pt 2):371-80. PubMed ID: 15774523
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
    Heine R; Pika U; Lehmann-Horn F
    Hum Mol Genet; 1993 Sep; 2(9):1349-53. PubMed ID: 8242056
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
    Lehmann-Horn F; Orth M; Kuhn M; Jurkat-Rott K
    Acta Myol; 2011 Oct; 30(2):133-7. PubMed ID: 22106717
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.