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 *

232 related articles for article (PubMed ID: 22197187)

  • 1. A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
    Zielonka D; Jurkat-Rott K; Stachowiak P; Bryl A; Marcinkowski JT; Lehmann-Horn F
    Neuromuscul Disord; 2012 Apr; 22(4):355-60. PubMed ID: 22197187
    [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. 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]  

  • 4. 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]  

  • 5. [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]  

  • 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. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
    Wijnberg ID; Owczarek-Lipska M; Sacchetto R; Mascarello F; Pascoli F; Grünberg W; van der Kolk JH; Drögemüller C
    Neuromuscul Disord; 2012 Apr; 22(4):361-7. PubMed ID: 22197188
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

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

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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; 16(8):921-9. PubMed ID: 18337730
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
    Lakraj AA; Miller G; Vortmeyer AO; Khokhar B; Nowak RJ; DiCapua DB
    Yale J Biol Med; 2013 Mar; 86(1):101-6. PubMed ID: 23483815
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 28(1):39-44. PubMed ID: 21221019
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
    Richardson RC; Tarleton JC; Bird TD; Gospe SM
    Muscle Nerve; 2014 Apr; 49(4):593-600. PubMed ID: 23893571
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.