Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 131

1.

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

Chahine M, George AL Jr, Zhou M, Ji S, Sun W, Barchi RL, Horn R.

Neuron. 1994 Feb;12(2):281-94.

PMID:
8110459
[PubMed - indexed for MEDLINE]
2.

Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.

Ji S, George AL Jr, Horn R, Barchi RL.

J Gen Physiol. 1996 Feb;107(2):183-94.

PMID:
8833340
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.

Fan Z, George AL Jr, Kyle JW, Makielski JC.

J Physiol. 1996 Oct 1;496 ( Pt 1):275-86.

PMID:
8910215
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.

Mitrovic N, George AL Jr, Rüdel R, Lehmann-Horn F, Lerche H.

Brain. 1999 Jun;122 ( Pt 6):1085-92.

PMID:
10356061
[PubMed - indexed for MEDLINE]
Free Article
5.

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

Yang N, Ji S, Zhou M, Ptácek LJ, Barchi RL, Horn R, George AL Jr.

Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12785-9.

PMID:
7809121
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ.

J Physiol. 1999 Jul 15;518 ( Pt 2):337-44.

PMID:
10381583
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Role of arginine residues on the S4 segment of the Bacillus halodurans Na+ channel in voltage-sensing.

Chahine M, Pilote S, Pouliot V, Takami H, Sato C.

J Membr Biol. 2004 Sep 1;201(1):9-24.

PMID:
15635808
[PubMed - indexed for MEDLINE]
8.

Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.

Plassart-Schiess E, Lhuillier L, George AL Jr, Fontaine B, Tabti N.

J Physiol. 1998 Mar 15;507 ( Pt 3):721-7.

PMID:
9508833
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
9716710
[PubMed - indexed for MEDLINE]
10.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.

Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.

J Physiol. 2000 Dec 15;529 Pt 3:533-9.

PMID:
11118488
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

Richmond JE, Featherstone DE, Ruben PC.

J Physiol. 1997 Mar 15;499 ( Pt 3):589-600.

PMID:
9130156
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
8619545
[PubMed - indexed for MEDLINE]
13.

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 1;554(Pt 3):635-47. Epub 2003 Nov 14.

PMID:
14617673
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.

Mohammadi B, Jurkat-Rott K, Alekov A, Dengler R, Bufler J, Lehmann-Horn F.

Pharmacogenet Genomics. 2005 Apr;15(4):235-44.

PMID:
15864116
[PubMed - indexed for MEDLINE]
15.

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 15;547(Pt 3):691-8. Epub 2003 Jan 24.

PMID:
12562902
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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 Sep-Nov;4(5-6):447-54.

PMID:
7533571
[PubMed - indexed for MEDLINE]
17.

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Ptácek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF.

Neuron. 1992 May;8(5):891-7.

PMID:
1316765
[PubMed - indexed for MEDLINE]
18.

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

Struyk AF, Scoggan KA, Bulman DE, Cannon SC.

J Neurosci. 2000 Dec 1;20(23):8610-7.

PMID:
11102465
[PubMed - indexed for MEDLINE]
Free Article
19.

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ.

J Neurosci. 1999 Jun 15;19(12):4762-71.

PMID:
10366610
[PubMed - indexed for MEDLINE]
Free Article
20.

From mutation to myotonia in sodium channel disorders.

Cannon SC.

Neuromuscul Disord. 1997 Jun;7(4):241-9. Review.

PMID:
9196906
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk