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Items: 1 to 20 of 210

1.

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

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

Am J Hum Genet. 1995 Dec;57(6):1325-34.

2.

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M.

Eur J Hum Genet. 2001 Dec;9(12):903-9. Erratum in: Eur J Hum Genet. 2010 Feb;18(2):264.

3.
4.

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
5.

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.

Brugnoni R, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R.

Hum Mutat. 1999 Nov;14(5):447.

PMID:
10533075
6.

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.

7.

Myotonia levior is a chloride channel disorder.

Lehmann-Horn F, Mailänder V, Heine R, George AL.

Hum Mol Genet. 1995 Aug;4(8):1397-402.

PMID:
7581380
8.

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.

Neurology. 1996 Oct;47(4):993-8.

PMID:
8857733
9.

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.

10.

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
11.

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.

PMID:
10619717
12.

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

Koch MC, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, Steinmeyer K, Jentsch TJ.

J Med Genet. 1993 Nov;30(11):914-7.

13.

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.

14.

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.

PMID:
9566422
15.

Novel muscle chloride channel mutations and their effects on heterozygous carriers.

Mailänder V, Heine R, Deymeer F, Lehmann-Horn F.

Am J Hum Genet. 1996 Feb;58(2):317-24.

16.

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.

Chen L, Schaerer M, Lu ZH, Lang D, Joncourt F, Weis J, Fritschi J, Kappeler L, Gallati S, Sigel E, Burgunder JM.

Muscle Nerve. 2004 May;29(5):670-6.

PMID:
15116370
17.

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

Pusch M.

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

PMID:
11933197
18.

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ.

Hum Mol Genet. 1998 Oct;7(11):1753-60.

19.

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.

PMID:
10737121
20.

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.

PMID:
10525982
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