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Items: 1 to 20 of 387

1.

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
2.

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.

3.
4.

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.

5.

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
6.

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
7.

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV.

Genetika. 2012 Sep;48(9):1113-23. Russian.

PMID:
23113340
8.

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
9.

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
10.

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
11.

[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].

Sasaki R, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K.

Rinsho Shinkeigaku. 2013;53(4):316-9. Japanese.

PMID:
23603549
12.

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
13.

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ.

Neurology. 2000 Feb 22;54(4):937-42.

PMID:
10690989
14.

Myotonia congenita.

Lossin C, George AL Jr.

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

PMID:
19185184
15.
16.

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.

17.

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.

Sasaki R, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, Uyama E.

Muscle Nerve. 2001 Mar;24(3):357-63.

PMID:
11353420
18.

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
19.

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
20.

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.

Portaro S, Altamura C, Licata N, Camerino GM, Imbrici P, Musumeci O, Rodolico C, Conte Camerino D, Toscano A, Desaphy JF.

Neuromolecular Med. 2015 Sep;17(3):285-96. doi: 10.1007/s12017-015-8356-8. Epub 2015 May 26.

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