Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 27

1.

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ.

EMBO J. 1994 Feb 15;13(4):737-43.

2.

Properties of voltage-gated chloride channels of the ClC gene family.

Jentsch TJ, Günther W, Pusch M, Schwappach B.

J Physiol. 1995 Jan;482:19S-25S. Review.

3.

[Role and function of voltage-gated chloride channels of the CIC family and their defects leading to genetic diseases].

Dołowy K, Bednarczyk P, Hordejuk R, Dworakowska B, Nurowska E, Jarzabek W.

Postepy Hig Med Dosw. 2002;56(3):307-13. Review. Polish.

PMID:
12194243
4.

Myotonia congenita.

Lossin C, George AL Jr.

Adv Genet. 2008;63:25-55. doi: 10.1016/S0065-2660(08)01002-X. Review.

PMID:
19185184
5.

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.

Tang CY, Chen TY.

J Biomed Biotechnol. 2011;2011:685328. doi: 10.1155/2011/685328. Epub 2011 Dec 1. Review.

6.

From tonus to tonicity: physiology of CLC chloride channels.

Waldegger S, Jentsch TJ.

J Am Soc Nephrol. 2000 Jul;11(7):1331-9. Review.

7.

The skeletal muscle sodium and chloride channel diseases.

Hudson AJ, Ebers GC, Bulman DE.

Brain. 1995 Apr;118 ( Pt 2):547-63. Review.

PMID:
7735894
8.

[Function of the CLC chloride channels and their implication in human pathology].

Vandewalle A.

Nephrologie. 2002;23(3):113-8. Review. French.

PMID:
12087807
10.

The CLC chloride channel family.

Jentsch TJ, Friedrich T, Schriever A, Yamada H.

Pflugers Arch. 1999 May;437(6):783-95. Review.

PMID:
10370055
11.

[Dominant myotonia congenita(Thomsen disease)].

Saito K, Yazaki E.

Ryoikibetsu Shokogun Shirizu. 2001;(35):120-2. Review. Japanese. No abstract available.

PMID:
11555886
12.

Molecular structure and physiological function of chloride channels.

Jentsch TJ, Stein V, Weinreich F, Zdebik AA.

Physiol Rev. 2002 Apr;82(2):503-68. Review. Erratum in: Physiol Rev. 2003 Apr;83(2):following table of contents.

13.

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E.

Muscle Nerve. 2005 Jul;32(1):19-34. Review.

PMID:
15786415
14.

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M.

Hum Mutat. 2002 Apr;19(4):423-34. Review.

PMID:
11933197
15.

[Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)].

Kuhn E.

Nervenarzt. 1993 Dec;64(12):766-9. Review. German.

PMID:
8114977
16.

CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.

Jentsch TJ.

Crit Rev Biochem Mol Biol. 2008 Jan-Feb;43(1):3-36. doi: 10.1080/10409230701829110 . Review.

PMID:
18307107
17.

[Structure and function of ClC chloride channels].

Uchida S.

Nihon Rinsho. 1996 Mar;54(3):667-71. Review. Japanese.

PMID:
8904221
18.

Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle.

Pedersen TH, Riisager A, de Paoli FV, Chen TY, Nielsen OB.

J Gen Physiol. 2016 Apr;147(4):291-308. doi: 10.1085/jgp.201611582. Review.

19.

Myotonias due to CLC-1 chloride channel mutations.

Jentsch TJ, Lorenz C, Pusch M, Steinmeyer K.

Soc Gen Physiol Ser. 1995;50:149-59. Review. No abstract available.

PMID:
7676320
20.

Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.

Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R.

Prog Neurobiol. 1994 Feb;42(2):313-7. Review.

PMID:
8008830

Supplemental Content

Support Center