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 *

230 related articles for article (PubMed ID: 8533761)

  • 1. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
    Meyer-Kleine C; Steinmeyer K; Ricker K; Jentsch TJ; Koch MC
    Am J Hum Genet; 1995 Dec; 57(6):1325-34. PubMed ID: 8533761
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
    Sangiuolo F; Botta A; Mesoraca A; Servidei S; Merlini L; Fratta G; Novelli G; Dallapiccola B
    Hum Mutat; 1998; 11(4):331. PubMed ID: 10215406
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myotonia levior is a chloride channel disorder.
    Lehmann-Horn F; Mailänder V; Heine R; George AL
    Hum Mol Genet; 1995 Aug; 4(8):1397-402. PubMed ID: 7581380
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
    Lorenz C; Meyer-Kleine C; Steinmeyer K; Koch MC; Jentsch TJ
    Hum Mol Genet; 1994 Jun; 3(6):941-6. PubMed ID: 7951242
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
    Koch MC; Ricker K; Otto M; Wolf F; Zoll B; Lorenz C; Steinmeyer K; Jentsch TJ
    J Med Genet; 1993 Nov; 30(11):914-7. PubMed ID: 8301644
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.
    Finnigan DF; Hanna WJ; Poma R; Bendall AJ
    J Vet Intern Med; 2007; 21(3):458-63. PubMed ID: 17552451
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
    Fialho D; Schorge S; Pucovska U; Davies NP; Labrum R; Haworth A; Stanley E; Sud R; Wakeling W; Davis MB; Kullmann DM; Hanna MG
    Brain; 2007 Dec; 130(Pt 12):3265-74. PubMed ID: 17932099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.
    Zhang J; George AL; Griggs RC; Fouad GT; Roberts J; Kwieciński H; Connolly AM; Ptácek LJ
    Neurology; 1996 Oct; 47(4):993-8. PubMed ID: 8857733
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
    Pusch M
    Hum Mutat; 2002 Apr; 19(4):423-34. PubMed ID: 11933197
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
    Skálová D; Zídková J; Voháňka S; Mazanec R; Mušová Z; Vondráček P; Mrázová L; Kraus J; Réblová K; Fajkusová L
    PLoS One; 2013; 8(12):e82549. PubMed ID: 24349310
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
    Vindas-Smith R; Fiore M; Vásquez M; Cuenca P; Del Valle G; Lagostena L; Gaitán-Peñas H; Estevez R; Pusch M; Morales F
    Hum Mutat; 2016 Jan; 37(1):74-83. PubMed ID: 26510092
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.
    Sasaki R; Ichiyasu H; Ito N; Ikeda T; Takano H; Ikeuchi T; Kuzuhara S; Uchino M; Tsuji S; Uyama E
    Neuromuscul Disord; 1999 Dec; 9(8):587-92. PubMed ID: 10619717
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Myotonia congenita: novel mutations in CLCN1 gene.
    Liu XL; Huang XJ; Shen JY; Zhou HY; Luan XH; Wang T; Chen SD; Wang Y; Tang HD; Cao L
    Channels (Austin); 2015; 9(5):292-8. PubMed ID: 26260254
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
    Grunnet M; Jespersen T; Colding-Jørgensen E; Schwartz M; Klaerke DA; Vissing J; Olesen SP; Dunø M
    Muscle Nerve; 2003 Dec; 28(6):722-32. PubMed ID: 14639587
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
    Gao F; Ma FC; Yuan ZF; Yang CW; Li HF; Xia ZZ; Shui QX; Jiang KW
    Neurol India; 2010; 58(5):743-6. PubMed ID: 21045501
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional and Structural Characterization of ClC-1 and Na
    Brenes O; Barbieri R; Vásquez M; Vindas-Smith R; Roig J; Romero A; Valle GD; Bermúdez-Guzmán L; Bertelli S; Pusch M; Morales F
    Cells; 2021 Feb; 10(2):. PubMed ID: 33670307
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.