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Journal Abstract Search

358 related items for PubMed ID: 16832098

  • 1. Autosomal dominant monosymptomatic myotonia permanens.
    Colding-Jørgensen E, Duno M, Vissing J.
    Neurology; 2006 Jul 11; 67(1):153-5. PubMed ID: 16832098
    [Abstract] [Full Text] [Related]

  • 2. A novel muscle sodium channel mutation causes painful congenital myotonia.
    Rosenfeld J, Sloan-Brown K, George AL.
    Ann Neurol; 1997 Nov 11; 42(5):811-4. PubMed ID: 9392583
    [Abstract] [Full Text] [Related]

  • 3. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
    Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M.
    Muscle Nerve; 2012 Feb 11; 45(2):279-83. PubMed ID: 22246887
    [Abstract] [Full Text] [Related]

  • 4. A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
    Schoser BG, Schröder JM, Grimm T, Sternberg D, Kress W.
    Muscle Nerve; 2007 May 11; 35(5):599-606. PubMed ID: 17212350
    [Abstract] [Full Text] [Related]

  • 5. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
    Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.
    Neuromuscul Disord; 2014 Nov 11; 24(11):953-9. PubMed ID: 25088311
    [Abstract] [Full Text] [Related]

  • 6. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
    Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M.
    J Clin Neurophysiol; 2011 Feb 11; 28(1):39-44. PubMed ID: 21221019
    [Abstract] [Full Text] [Related]

  • 7. The myotonias: their diagnosis and treatment.
    Moxley RT.
    Compr Ther; 1996 Jan 11; 22(1):8-21. PubMed ID: 8654027
    [No Abstract] [Full Text] [Related]

  • 8. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
    Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM.
    Neurology; 2008 Nov 18; 71(21):1669-75. PubMed ID: 19015483
    [Abstract] [Full Text] [Related]

  • 9. 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 18; 16(4):214-20. PubMed ID: 18220014
    [Abstract] [Full Text] [Related]

  • 10. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
    Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.
    Eur J Hum Genet; 2008 Aug 18; 16(8):921-9. PubMed ID: 18337730
    [Abstract] [Full Text] [Related]

  • 11. New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
    Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K.
    Muscle Nerve; 2009 May 18; 39(5):666-73. PubMed ID: 19347921
    [Abstract] [Full Text] [Related]

  • 12. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
    Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.
    Neuromuscul Disord; 2009 May 18; 19(5):330-4. PubMed ID: 18337100
    [Abstract] [Full Text] [Related]

  • 13. [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
    Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV.
    Genetika; 2012 Sep 18; 48(9):1113-23. PubMed ID: 23113340
    [Abstract] [Full Text] [Related]

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  • 15. [A girl with hereditary myotonia due to an exceptional sodium channel mutation].
    van den Bergen JC, Verbruggen KT, Ginjaar HB, Kerstjens-Frederikse WS.
    Ned Tijdschr Geneeskd; 2006 Nov 11; 150(45):2501-6. PubMed ID: 17137100
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  • 17. 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 Nov 11; 2(2):110-24. PubMed ID: 8044656
    [Abstract] [Full Text] [Related]

  • 18. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
    Shirakawa T, Sakai K, Kitagawa Y, Hori A, Hirose G.
    Neurology; 2002 Oct 08; 59(7):1091-4. PubMed ID: 12370472
    [Abstract] [Full Text] [Related]

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  • 20. [Becker's myotonia in Peru].
    Torres L, Vélez M, Cosentino C.
    Rev Neurol; 2002 Oct 08; 30(11):1033-6. PubMed ID: 10904948
    [Abstract] [Full Text] [Related]

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