248 related articles for article (PubMed ID: 8845168)
1. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
Pusch M; Steinmeyer K; Koch MC; Jentsch TJ
Neuron; 1995 Dec; 15(6):1455-63. PubMed ID: 8845168
[TBL] [Abstract][Full Text] [Related]
2. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici P; Maggi L; Mangiatordi GF; Dinardo MM; Altamura C; Brugnoni R; Alberga D; Pinter GL; Ricci G; Siciliano G; Micheli R; Annicchiarico G; Lattanzi G; Nicolotti O; Morandi L; Bernasconi P; Desaphy JF; Mantegazza R; Camerino DC
J Physiol; 2015 Sep; 593(18):4181-99. PubMed ID: 26096614
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 9736777
[TBL] [Abstract][Full Text] [Related]
4. A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
Tsujino A; Kaibara M; Hayashi H; Eguchi H; Nakayama S; Sato K; Fukuda T; Tateishi Y; Shirabe S; Taniyama K; Kawakami A
Neurosci Lett; 2011 Apr; 494(2):155-60. PubMed ID: 21385601
[TBL] [Abstract][Full Text] [Related]
5. 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; 13(4):737-43. PubMed ID: 8112288
[TBL] [Abstract][Full Text] [Related]
6. Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
Wollnik B; Kubisch C; Steinmeyer K; Pusch M
Hum Mol Genet; 1997 May; 6(5):805-11. PubMed ID: 9158157
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 26007199
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.
Zhang J; George AL; Griggs RC; Fouad GT; Roberts J; Kwieciński H; Connolly AM; Ptácek LJ
Neurology; 1996 Oct; 47(4):993-8. PubMed ID: 8857733
[TBL] [Abstract][Full Text] [Related]
9. A novel alteration of muscle chloride channel gating in myotonia levior.
Ryan A; Rüdel R; Kuchenbecker M; Fahlke C
J Physiol; 2002 Dec; 545(2):345-54. PubMed ID: 12456816
[TBL] [Abstract][Full Text] [Related]
10. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.
Warnstedt M; Sun C; Poser B; Escriva MJ; Tranebjaerg L; Torbergsen T; van Ghelue M; Fahlke C
J Neurosci; 2002 Sep; 22(17):7462-70. PubMed ID: 12196568
[TBL] [Abstract][Full Text] [Related]
11. 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
FEBS Lett; 1999 Jul; 456(1):54-8. PubMed ID: 10452529
[TBL] [Abstract][Full Text] [Related]
12. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
Richman DP; Yu Y; Lee TT; Tseng PY; Yu WP; Maselli RA; Tang CY; Chen TY
Neuromolecular Med; 2012 Dec; 14(4):328-37. PubMed ID: 22790975
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 11840191
[TBL] [Abstract][Full Text] [Related]
14. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
Zhang J; Bendahhou S; Sanguinetti MC; Ptácek LJ
Neurology; 2000 Feb; 54(4):937-42. PubMed ID: 10690989
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 7581380
[TBL] [Abstract][Full Text] [Related]
16. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Sangiuolo F; Botta A; Mesoraca A; Servidei S; Merlini L; Fratta G; Novelli G; Dallapiccola B
Hum Mutat; 1998; 11(4):331. PubMed ID: 10215406
[TBL] [Abstract][Full Text] [Related]
17. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
Fahlke C; Beck CL; George AL
Proc Natl Acad Sci U S A; 1997 Mar; 94(6):2729-34. PubMed ID: 9122265
[TBL] [Abstract][Full Text] [Related]
18. [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. PubMed ID: 23603549
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 11353420
[TBL] [Abstract][Full Text] [Related]
20. Electrical myotonia in heterozygous carriers of recessive myotonia congenita.
Deymeer F; Lehmann-Horn F; Serdaroğlu P; Cakirkaya S; Benz S; Rüdel R; Ozdemir C
Muscle Nerve; 1999 Jan; 22(1):123-5. PubMed ID: 9883868
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
