Steinmeyer K - Search Results

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. Meyer-Kleine C, et al. Among authors: steinmeyer k. Am J Hum Genet. 1995 Dec;57(6):1325-34. Am J Hum Genet. 1995. PMID: 8533761 Free PMC article.

2

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. Koch MC, et al. Among authors: steinmeyer k. Science. 1992 Aug 7;257(5071):797-800. doi: 10.1126/science.1379744. Science. 1992. PMID: 1379744

3

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. Lorenz C, et al. Among authors: steinmeyer k. Hum Mol Genet. 1994 Jun;3(6):941-6. doi: 10.1093/hmg/3.6.941. Hum Mol Genet. 1994. PMID: 7951242

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. Klocke R, et al. Among authors: steinmeyer k. J Biol Chem. 1994 Nov 4;269(44):27635-9. J Biol Chem. 1994. PMID: 7961681 Free article.

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. Steinmeyer K, et al. EMBO J. 1994 Feb 15;13(4):737-43. doi: 10.1002/j.1460-2075.1994.tb06315.x. EMBO J. 1994. PMID: 8112288 Free PMC article.

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. Gronemeier M, et al. Among authors: steinmeyer k. J Biol Chem. 1994 Feb 25;269(8):5963-7. J Biol Chem. 1994. PMID: 8119941 Free article.

The standard allele adr has arisen by the insertion of a retroposon into the chloride channel gene Clc-1 (Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., and Jentsch, T. ...

The standard allele adr has arisen by the insertion of a retroposon into the chloride channel gene Clc-1 (Steinmeyer, K., Kloc …

7

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. Koch MC, et al. Among authors: steinmeyer k. J Med Genet. 1993 Nov;30(11):914-7. doi: 10.1136/jmg.30.11.914. J Med Genet. 1993. PMID: 8301644 Free PMC article.

8

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. Pusch M, et al. Among authors: steinmeyer k. Neuron. 1995 Dec;15(6):1455-63. doi: 10.1016/0896-6273(95)90023-3. Neuron. 1995. PMID: 8845168 Free article.

9

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

Steinmeyer K, Ortland C, Jentsch TJ. Steinmeyer K, et al. Nature. 1991 Nov 28;354(6351):301-4. doi: 10.1038/354301a0. Nature. 1991. PMID: 1659664

10

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. Steinmeyer K, et al. Nature. 1991 Nov 28;354(6351):304-8. doi: 10.1038/354304a0. Nature. 1991. PMID: 1659665

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