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 *

136 related articles for article (PubMed ID: 19918890)

  • 1. Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.
    Muniz VP; Senkevics AS; Zilbersztajn D; Gurgel-Giannetti J; Silva HC; Yamamoto LU; Pavanello RC; Pearson PL; Zatz M; Vainzof M
    Muscle Nerve; 2010 Mar; 41(3):427-8. PubMed ID: 19918890
    [No Abstract]   [Full Text] [Related]  

  • 2. Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
    Bernard G; Poulin C; Puymirat J; Sternberg D; Shevell M
    J Child Neurol; 2008 Feb; 23(2):163-6. PubMed ID: 18263754
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.
    Kornblum C; Lutterbey GG; Czermin B; Reimann J; von Kleist-Retzow JC; Jurkat-Rott K; Wattjes MP
    Acta Neurol Scand; 2010 Feb; 121(2):131-5. PubMed ID: 20047568
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic variability in myotonia congenita.
    Colding-Jørgensen E
    Muscle Nerve; 2005 Jul; 32(1):19-34. PubMed ID: 15786415
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A family with autosomal recessive generalised myotonia with Herculean appearance.
    Sinha MK; Chaurasia RN; Verma R
    J Assoc Physicians India; 2011 Feb; 59():120-2. PubMed ID: 21751653
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
    Colding-Jørgensen E; DunØ M; Schwartz M; Vissing J
    Muscle Nerve; 2003 Apr; 27(4):449-55. PubMed ID: 12661046
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
    Sun C; Van Ghelue M; Tranebjærg L; Thyssen F; Nilssen Ø; Torbergsen T
    Clin Genet; 2011 Dec; 80(6):574-80. PubMed ID: 21204798
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
    Dunø M; Colding-Jørgensen E; Grunnet M; Jespersen T; Vissing J; Schwartz M
    Eur J Hum Genet; 2004 Sep; 12(9):738-43. PubMed ID: 15162127
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
    Lyons MJ; Duron R; Molinero I; Sangiuolo F; Holden KR
    Pediatr Neurol; 2010 May; 42(5):365-8. PubMed ID: 20399394
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
    Sun C; Tranebjaerg L; Torbergsen T; Holmgren G; Van Ghelue M
    Eur J Hum Genet; 2001 Dec; 9(12):903-9. PubMed ID: 11840191
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
    Shalata A; Furman H; Adir V; Adir N; Hujeirat Y; Shalev SA; Borochowitz ZU
    Muscle Nerve; 2010 Apr; 41(4):464-9. PubMed ID: 19697366
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
    Kumar KR; Ng K; Vandebona H; Davis MR; Sue CM
    Muscle Nerve; 2010 Mar; 41(3):412-5. PubMed ID: 20120005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 45(2):279-83. PubMed ID: 22246887
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
    González-Freire M; Santiago C; Gómez-Gallego F; Pérez M; Foster C; Arenas J; Lucia A
    Neuromuscul Disord; 2009 Mar; 19(3):220-2. PubMed ID: 19232494
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
    Plassart-Schiess E; Gervais A; Eymard B; Lagueny A; Pouget J; Warter JM; Fardeau M; Jentsch TJ; Fontaine B
    Neurology; 1998 Apr; 50(4):1176-9. PubMed ID: 9566422
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita.
    Hilbert P; Frank S; Raheem O; Suominen T; Penttilä S; Udd B; Fischer D
    Acta Neurol Scand; 2011 Aug; 124(2):146-7; author reply 148. PubMed ID: 21732919
    [No Abstract]   [Full Text] [Related]  

  • 20. [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].
    Chen ZT; He J; Chen WJ; Chen SG; Lin JL; Ye QY; Huang HP
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):690-2. PubMed ID: 23225051
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.