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 *

120 related articles for article (PubMed ID: 9703437)

  • 1. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.
    Wagner S; Deymeer F; Kürz LL; Benz S; Schleithoff L; Lehmann-Horn F; Serdaroğlu P; Ozdemir C; Rüdel R
    Muscle Nerve; 1998 Sep; 21(9):1122-8. PubMed ID: 9703437
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel alteration of muscle chloride channel gating in myotonia levior.
    Ryan A; Rüdel R; Kuchenbecker M; Fahlke C
    J Physiol; 2002 Dec; 545(2):345-54. PubMed ID: 12456816
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
    Wollnik B; Kubisch C; Steinmeyer K; Pusch M
    Hum Mol Genet; 1997 May; 6(5):805-11. PubMed ID: 9158157
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
    Richman DP; Yu Y; Lee TT; Tseng PY; Yu WP; Maselli RA; Tang CY; Chen TY
    Neuromolecular Med; 2012 Dec; 14(4):328-37. PubMed ID: 22790975
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel chloride channel mutations leading to mild myotonia among Chinese.
    Burgunder JM; Huifang S; Beguin P; Baur R; Eng CS; Seet RC; Lim EC; Ong BK; Hunziker W; Sigel E
    Neuromuscul Disord; 2008 Aug; 18(8):633-40. PubMed ID: 18579381
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
    Pusch M; Steinmeyer K; Koch MC; Jentsch TJ
    Neuron; 1995 Dec; 15(6):1455-63. PubMed ID: 8845168
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
    Kato H; Kokunai Y; Dalle C; Kubota T; Madokoro Y; Yuasa H; Uchida Y; Ikeda T; Mochizuki H; Nicole S; Fontaine B; Takahashi MP; Mitake S
    J Neurol Sci; 2016 Oct; 369():254-258. PubMed ID: 27653901
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
    Wagner S; Lerche H; Mitrovic N; Heine R; George AL; Lehmann-Horn F
    Neurology; 1997 Oct; 49(4):1018-25. PubMed ID: 9339683
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
    Fahlke C; Beck CL; George AL
    Proc Natl Acad Sci U S A; 1997 Mar; 94(6):2729-34. PubMed ID: 9122265
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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; 24(11):953-9. PubMed ID: 25088311
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.
    Koty PP; Pegoraro E; Hobson G; Marks HG; Turel A; Flagler D; Cadaldini M; Angelini C; Hoffman EP
    Neurology; 1996 Oct; 47(4):963-8. PubMed ID: 8857727
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
    Kubisch C; Schmidt-Rose T; Fontaine B; Bretag AH; Jentsch TJ
    Hum Mol Genet; 1998 Oct; 7(11):1753-60. PubMed ID: 9736777
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
    Imbrici P; Altamura C; Camerino GM; Mangiatordi GF; Conte E; Maggi L; Brugnoni R; Musaraj K; Caloiero R; Alberga D; Marsano RM; Ricci G; Siciliano G; Nicolotti O; Mora M; Bernasconi P; Desaphy JF; Mantegazza R; Camerino DC
    FASEB J; 2016 Oct; 30(10):3285-3295. PubMed ID: 27324117
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
    Tsujino A; Kaibara M; Hayashi H; Eguchi H; Nakayama S; Sato K; Fukuda T; Tateishi Y; Shirabe S; Taniyama K; Kawakami A
    Neurosci Lett; 2011 Apr; 494(2):155-60. PubMed ID: 21385601
    [TBL] [Abstract][Full Text] [Related]  

  • 18. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
    Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
    J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis for decreased muscle chloride conductance in the myotonic goat.
    Beck CL; Fahlke C; George AL
    Proc Natl Acad Sci U S A; 1996 Oct; 93(20):11248-52. PubMed ID: 8855341
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.