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 *

132 related articles for article (PubMed ID: 8396519)

  • 21. Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.
    Chen L; Schaerer M; Lu ZH; Lang D; Joncourt F; Weis J; Fritschi J; Kappeler L; Gallati S; Sigel E; Burgunder JM
    Muscle Nerve; 2004 May; 29(5):670-6. PubMed ID: 15116370
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
    Chang TY; Kuo HC; Hsiao KM; Huang CC
    Acta Neurol Taiwan; 2007 Dec; 16(4):214-20. PubMed ID: 18220014
    [TBL] [Abstract][Full Text] [Related]  

  • 24. C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.
    Borg K; Ahlberg G; Anvret M
    Neuromuscul Disord; 1997 Jun; 7(4):231-3. PubMed ID: 9196904
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
    Brugnoni R; Galantini S; Confalonieri P; Balestrini MR; Cornelio F; Mantegazza R
    Hum Mutat; 1999 Nov; 14(5):447. PubMed ID: 10533075
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Becker's myotonia in Peru].
    Torres L; Vélez M; Cosentino C
    Rev Neurol; 2000 Jun 1-15; 30(11):1033-6. PubMed ID: 10904948
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. [Molecular genetics of sodium channel myopathies].
    Ruscák J
    Bratisl Lek Listy; 1997 Dec; 98(12):701-7. PubMed ID: 9525070
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical study of paramyotonia congenita with and without myotonia in a warm environment.
    Haass A; Ricker K; Rüdel R; Lehmann-Horn F; Böhlen R; Dengler R; Mertens HG
    Muscle Nerve; 1981; 4(5):388-95. PubMed ID: 6793868
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Human skeletal muscle sodium channelopathies.
    Vicart S; Sternberg D; Fontaine B; Meola G
    Neurol Sci; 2005 Oct; 26(4):194-202. PubMed ID: 16193245
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Paramyotonia congenita--report of 3 cases in a family].
    Zhang ZX
    Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1984 Oct; 17(5):257-60. PubMed ID: 6537282
    [No Abstract]   [Full Text] [Related]  

  • 34. Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family.
    de Silva SM; Kuncl RW; Griffin JW; Cornblath DR; Chavoustie S
    Muscle Nerve; 1990 Jan; 13(1):21-6. PubMed ID: 2325698
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation.
    Moran O; Melani R; Nizzari M; Conti F
    J Bioenerg Biomembr; 1998 Dec; 30(6):579-88. PubMed ID: 10206477
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Paramyotonia congenita. Presentation of a Spanish family].
    Ferrero Arias J; Díez López M; Cubillo Alvarez S; Pilo Martín I
    Med Clin (Barc); 1984 Sep; 83(7):297-300. PubMed ID: 6492920
    [No Abstract]   [Full Text] [Related]  

  • 38. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
    Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
    Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism.
    Green DS; Hayward LJ; George AL; Cannon SC
    Ann Neurol; 1997 Aug; 42(2):253-6. PubMed ID: 9266738
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
    McClatchey AI; Van den Bergh P; Pericak-Vance MA; Raskind W; Verellen C; McKenna-Yasek D; Rao K; Haines JL; Bird T; Brown RH
    Cell; 1992 Feb; 68(4):769-74. PubMed ID: 1310898
    [TBL] [Abstract][Full Text] [Related]  

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