248 related articles for article (PubMed ID: 8845168)
21. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
George AL; Crackower MA; Abdalla JA; Hudson AJ; Ebers GC
Nat Genet; 1993 Apr; 3(4):305-10. PubMed ID: 7981750
[TBL] [Abstract][Full Text] [Related]
22. Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
Tang CY; Chen TY
J Biomed Biotechnol; 2011; 2011():685328. PubMed ID: 22187529
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
Weinberger S; Wojciechowski D; Sternberg D; Lehmann-Horn F; Jurkat-Rott K; Becher T; Begemann B; Fahlke C; Fischer M
J Physiol; 2012 Aug; 590(15):3449-64. PubMed ID: 22641783
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Myotonia congenita.
Lossin C; George AL
Adv Genet; 2008; 63():25-55. PubMed ID: 19185184
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence.
Jehasse K; Jacquerie K; de Froidmont A; Lemoine C; Grisar T; Stouffs K; Lakaye B; Seutin V
Mol Genet Genomic Med; 2021 Feb; 9(2):e1588. PubMed ID: 33507632
[TBL] [Abstract][Full Text] [Related]
31. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
Desaphy JF; Gramegna G; Altamura C; Dinardo MM; Imbrici P; George AL; Modoni A; Lomonaco M; Conte Camerino D
Exp Neurol; 2013 Oct; 248():530-40. PubMed ID: 23933576
[TBL] [Abstract][Full Text] [Related]
32. Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Wu FF; Ryan A; Devaney J; Warnstedt M; Korade-Mirnics Z; Poser B; Escriva MJ; Pegoraro E; Yee AS; Felice KJ; Giuliani MJ; Mayer RF; Mongini T; Palmucci L; Marino M; Rüdel R; Hoffman EP; Fahlke C
Brain; 2002 Nov; 125(Pt 11):2392-407. PubMed ID: 12390967
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
Lee TT; Zhang XD; Chuang CC; Chen JJ; Chen YA; Chen SC; Chen TY; Tang CY
PLoS One; 2013; 8(2):e55930. PubMed ID: 23424641
[TBL] [Abstract][Full Text] [Related]
35. Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.
Esteban J; Neumeyer AM; McKenna-Yasek D; Brown RH
Neurogenetics; 1998 Mar; 1(3):185-8. PubMed ID: 10737121
[TBL] [Abstract][Full Text] [Related]
36. Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.
Fialho D; Kullmann DM; Hanna MG; Schorge S
Neuromuscul Disord; 2008 Nov; 18(11):869-72. PubMed ID: 18815035
[TBL] [Abstract][Full Text] [Related]
37. Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
de Diego C; Gámez J; Plassart-Schiess E; Lasa A; Del Río E; Cervera C; Baiget M; Gallano P; Fontaine B
J Neurol; 1999 Sep; 246(9):825-9. PubMed ID: 10525982
[TBL] [Abstract][Full Text] [Related]
38. [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; 48(9):1113-23. PubMed ID: 23113340
[TBL] [Abstract][Full Text] [Related]
39. The skeletal muscle chloride channel in dominant and recessive human myotonia.
Koch MC; Steinmeyer K; Lorenz C; Ricker K; Wolf F; Otto M; Zoll B; Lehmann-Horn F; Grzeschik KH; Jentsch TJ
Science; 1992 Aug; 257(5071):797-800. PubMed ID: 1379744
[TBL] [Abstract][Full Text] [Related]
40. [Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)].
Kuhn E
Nervenarzt; 1993 Dec; 64(12):766-9. PubMed ID: 8114977
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]