BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 7533571)

  • 21. 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]  

  • 22. 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]  

  • 23. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).
    Koch MC; Baumbach K; George AL; Ricker K
    Neuroreport; 1995 Oct; 6(15):2001-4. PubMed ID: 8580427
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
    Ptácek LJ; George AL; Barchi RL; Griggs RC; Riggs JE; Robertson M; Leppert MF
    Neuron; 1992 May; 8(5):891-7. PubMed ID: 1316765
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita.
    Yamada T; Ochi H; Hara H; Yoshimura T; Kobayashi T
    J Neurol Sci; 1995 Nov; 133(1-2):192-3. PubMed ID: 8583225
    [No Abstract]   [Full Text] [Related]  

  • 30. 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]  

  • 31. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
    Koch MC; Ricker K; Otto M; Grimm T; Bender K; Zoll B; Harper PS; Lehmann-Horn F; Rüdel R; Hoffman EP
    Hum Genet; 1991 Nov; 88(1):71-4. PubMed ID: 1660029
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
    Ebers GC; George AL; Barchi RL; Ting-Passador SS; Kallen RG; Lathrop GM; Beckmann JS; Hahn AF; Brown WF; Campbell RD
    Ann Neurol; 1991 Dec; 30(6):810-6. PubMed ID: 1686388
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
    Wei J; Wang DW; Alings M; Fish F; Wathen M; Roden DM; George AL
    Circulation; 1999 Jun; 99(24):3165-71. PubMed ID: 10377081
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
    Wu FF; Ryan A; Devaney J; Warnstedt M; Korade-Mirnics Z; Poser B; Escriva MJ; Pegoraro E; Yee AS; Felice KJ; Giuliani MJ; Mayer RF; Mongini T; Palmucci L; Marino M; Rüdel R; Hoffman EP; Fahlke C
    Brain; 2002 Nov; 125(Pt 11):2392-407. PubMed ID: 12390967
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.
    Struyk AF; Scoggan KA; Bulman DE; Cannon SC
    J Neurosci; 2000 Dec; 20(23):8610-7. PubMed ID: 11102465
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
    McClatchey AI; McKenna-Yasek D; Cros D; Worthen HG; Kuncl RW; DeSilva SM; Cornblath DR; Gusella JF; Brown RH
    Nat Genet; 1992 Oct; 2(2):148-52. PubMed ID: 1338909
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Linkage of atypical myotonia congenita to a sodium channel locus.
    Ptacek LJ; Tawil R; Griggs RC; Storvick D; Leppert M
    Neurology; 1992 Feb; 42(2):431-3. PubMed ID: 1310531
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [A Japanese family with paramyotonia congenita which has a mutation in the muscle sodium channel gene].
    Ochi H; Yamada T; Hara H; Yoshimura T; Kobayashi T
    Rinsho Shinkeigaku; 1995 Aug; 35(8):893-6. PubMed ID: 8665733
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
    Ptacek LJ; Trimmer JS; Agnew WS; Roberts JW; Petajan JH; Leppert M
    Am J Hum Genet; 1991 Oct; 49(4):851-4. PubMed ID: 1654742
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.