Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

2.

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.

Yale J Biol Med. 2013 Mar;86(1):101-6. Epub 2013 Mar 12.

3.

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014.

PMID:
20399394
4.

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Skálová D, Zídková J, Voháňka S, Mazanec R, Mušová Z, Vondráček P, Mrázová L, Kraus J, Réblová K, Fajkusová L.

PLoS One. 2013 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013.

5.

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
6.

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.

Eur J Hum Genet. 2008 Aug;16(8):921-9. doi: 10.1038/ejhg.2008.39. Epub 2008 Mar 12.

7.
8.

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.

Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.

Rev Biol Trop. 2008 Mar;56(1):1-11.

PMID:
18624224
9.

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M.

J Clin Neurophysiol. 2011 Feb;28(1):39-44. doi: 10.1097/WNP.0b013e31820510d7.

PMID:
21221019
10.

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Chen ZT, He J, Chen WJ, Chen SG, Lin JL, Ye QY, Huang HP.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):690-2. doi: 10.3760/cma.j.issn.1003-9406.2012.06.014. Chinese.

PMID:
23225051
11.

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
12.

Myotonia congenita.

Lossin C, George AL Jr.

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

PMID:
19185184
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.

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.

Zielonka D, Jurkat-Rott K, Stachowiak P, Bryl A, Marcinkowski JT, Lehmann-Horn F.

Neuromuscul Disord. 2012 Apr;22(4):355-60. doi: 10.1016/j.nmd.2011.10.024. Epub 2011 Dec 23.

PMID:
22197187
15.

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.

Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.

PMID:
25088311
16.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.

J Korean Med Sci. 2009 Dec;24(6):1038-44. doi: 10.3346/jkms.2009.24.6.1038. Epub 2009 Nov 9.

17.

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
18.

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
19.

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.

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

Supplemental Content

Support Center