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Results: 1 to 20 of 146

1.

Inactivation of muscle chloride channel by transposon insertion in myotonic mice.

Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Gründer S, Jentsch TJ.

Nature. 1991 Nov 28;354(6351):304-8.

PMID:
1659665
[PubMed - indexed for MEDLINE]
2.

Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.

Gurnett CA, Kahl SD, Anderson RD, Campbell KP.

J Biol Chem. 1995 Apr 21;270(16):9035-8.

PMID:
7721815
[PubMed - indexed for MEDLINE]
Free Article
3.

Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.

Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H.

Neuromuscul Disord. 1993 Jul;3(4):267-74.

PMID:
8268723
[PubMed - indexed for MEDLINE]
4.

Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.

Klocke R, Steinmeyer K, Jentsch TJ, Jockusch H.

J Biol Chem. 1994 Nov 4;269(44):27635-9.

PMID:
7961681
[PubMed - indexed for MEDLINE]
Free Article
5.

The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.

Schnülle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch JW.

Mamm Genome. 1997 Oct;8(10):718-25.

PMID:
9321463
[PubMed - indexed for MEDLINE]
6.

Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.

Gronemeier M, Condie A, Prosser J, Steinmeyer K, Jentsch TJ, Jockusch H.

J Biol Chem. 1994 Feb 25;269(8):5963-7.

PMID:
8119941
[PubMed - indexed for MEDLINE]
Free Article
7.

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 7;257(5071):797-800.

PMID:
1379744
[PubMed - indexed for MEDLINE]
8.

Molecular basis for decreased muscle chloride conductance in the myotonic goat.

Beck CL, Fahlke C, George AL Jr.

Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):11248-52.

PMID:
8855341
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.

Steinmeyer K, Ortland C, Jentsch TJ.

Nature. 1991 Nov 28;354(6351):301-4.

PMID:
1659664
[PubMed - indexed for MEDLINE]
10.

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.

Finnigan DF, Hanna WJ, Poma R, Bendall AJ.

J Vet Intern Med. 2007 May-Jun;21(3):458-63.

PMID:
17552451
[PubMed - indexed for MEDLINE]
11.

Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse.

Schleef M, Zühlke C, Schöffl F, Jockusch H.

Neuromuscul Disord. 1994 May;4(3):205-17.

PMID:
7522680
[PubMed - indexed for MEDLINE]
12.

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA.

Mol Cell. 2002 Jul;10(1):35-44.

PMID:
12150905
[PubMed - indexed for MEDLINE]
Free Article
13.

A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.

Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL Jr.

FEBS Lett. 1999 Jul 30;456(1):54-8.

PMID:
10452529
[PubMed - indexed for MEDLINE]
Free Article
14.

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

Kuhn E.

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

PMID:
8114977
[PubMed - indexed for MEDLINE]
15.

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.

Heine R, George AL Jr, Pika U, Deymeer F, Rüdel R, Lehmann-Horn F.

Hum Mol Genet. 1994 Jul;3(7):1123-8.

PMID:
7981681
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Myotonia congenita.

Lossin C, George AL Jr.

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

PMID:
19185184
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
14639587
[PubMed - indexed for MEDLINE]
19.

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ.

Hum Mol Genet. 1994 Jun;3(6):941-6.

PMID:
7951242
[PubMed - indexed for MEDLINE]
20.

Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants.

Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H.

Neuromuscul Disord. 1998 Dec;8(8):551-60.

PMID:
10093061
[PubMed - indexed for MEDLINE]

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