126 related articles for article (PubMed ID: 11054753)
1. Patch clamp studies of the thr1313met mutant sodium channel causing paramyotonia congenita.
Boulos PT; Heiman-Patterson TD; Alexander GM; Tahmoush AJ
Muscle Nerve; 2000 Nov; 23(11):1736-47. PubMed ID: 11054753
[TBL] [Abstract][Full Text] [Related]
2. Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
Tahmoush AJ; Schaller KL; Zhang P; Hyslop T; Heiman-Patterson T; Caldwell JH
Neuromuscul Disord; 1994; 4(5-6):447-54. PubMed ID: 7533571
[TBL] [Abstract][Full Text] [Related]
3. A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
Bouhours M; Luce S; Sternberg D; Willer JC; Fontaine B; Tabti N
J Physiol; 2005 Jun; 565(Pt 2):415-27. PubMed ID: 15790667
[TBL] [Abstract][Full Text] [Related]
4. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
Bouhours M; Sternberg D; Davoine CS; Ferrer X; Willer JC; Fontaine B; Tabti N
J Physiol; 2004 Feb; 554(Pt 3):635-47. PubMed ID: 14617673
[TBL] [Abstract][Full Text] [Related]
5. Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.
Lerche H; Mitrovic N; Dubowitz V; Lehmann-Horn F
Ann Neurol; 1996 May; 39(5):599-608. PubMed ID: 8619545
[TBL] [Abstract][Full Text] [Related]
6. Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
Dice MS; Abbruzzese JL; Wheeler JT; Groome JR; Fujimoto E; Ruben PC
Muscle Nerve; 2004 Sep; 30(3):277-88. PubMed ID: 15318338
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.
Mohammadi B; Mitrovic N; Lehmann-Horn F; Dengler R; Bufler J
J Physiol; 2003 Mar; 547(Pt 3):691-8. PubMed ID: 12562902
[TBL] [Abstract][Full Text] [Related]
9. Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative.
Desaphy JF; De Luca A; Tortorella P; De Vito D; George AL; Conte Camerino D
Neurology; 2001 Nov; 57(10):1849-57. PubMed ID: 11723275
[TBL] [Abstract][Full Text] [Related]
10. The anesthetic propofol modulates gating in paramyotonia congenita mutant muscle sodium channels.
Haeseler G; Störmer M; Mohammadi B; Bufler J; Dengler R; Piepenbrock S; Leuwer M
Muscle Nerve; 2001 Jun; 24(6):736-43. PubMed ID: 11360256
[TBL] [Abstract][Full Text] [Related]
11. Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.
Mitrovic N; George AL; Rüdel R; Lehmann-Horn F; Lerche H
Brain; 1999 Jun; 122 ( Pt 6)():1085-92. PubMed ID: 10356061
[TBL] [Abstract][Full Text] [Related]
12. Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome JR; Larsen MF; Coonts A
Channels (Austin); 2008; 2(1):39-50. PubMed ID: 18690054
[TBL] [Abstract][Full Text] [Related]
13. Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M; Sasaki R; Nagano T; Matsuda A; Nakamura S; Takahama M; Ohnuki M; Hasegawa H; Mitarai T; Hirose K
Intern Med; 2003 Sep; 42(9):856-61. PubMed ID: 14518676
[TBL] [Abstract][Full Text] [Related]
14. Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
Fleischhauer R; Mitrovic N; Deymeer F; Lehmann-Horn F; Lerche H
Pflugers Arch; 1998 Oct; 436(5):757-65. PubMed ID: 9716710
[TBL] [Abstract][Full Text] [Related]
15. Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.
Blijham PJ; Drost G; Stegeman DF; Zwarts MJ
Muscle Nerve; 2008 Jan; 37(1):23-6. PubMed ID: 17823953
[TBL] [Abstract][Full Text] [Related]
16. Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
Webb J; Cannon SC
Neurology; 2008 Mar; 70(10):755-61. PubMed ID: 17898326
[TBL] [Abstract][Full Text] [Related]
17. Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
Plassart-Schiess E; Lhuillier L; George AL; Fontaine B; Tabti N
J Physiol; 1998 Mar; 507 ( Pt 3)(Pt 3):721-7. PubMed ID: 9508833
[TBL] [Abstract][Full Text] [Related]
18. New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Kubota T; Kinoshita M; Sasaki R; Aoike F; Takahashi MP; Sakoda S; Hirose K
Muscle Nerve; 2009 May; 39(5):666-73. PubMed ID: 19347921
[TBL] [Abstract][Full Text] [Related]
19. Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
Ji S; George AL; Horn R; Barchi RL
J Gen Physiol; 1996 Feb; 107(2):183-94. PubMed ID: 8833340
[TBL] [Abstract][Full Text] [Related]
20. Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels.
Ruff RL
Am J Physiol; 1999 Nov; 277(5):C937-47. PubMed ID: 10564086
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]