Kubisch C - Search Results

1

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Among authors: kubisch c. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

2

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 Oct;6(11):1943-9. doi: 10.1093/hmg/6.11.1943. Hum Mol Genet. 1997. PMID: 9302275

3

A potassium channel mutation in neonatal human epilepsy.

Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. Biervert C, et al. Among authors: kubisch c. Science. 1998 Jan 16;279(5349):403-6. doi: 10.1126/science.279.5349.403. Science. 1998. PMID: 9430594

4

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: kubisch c. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549

5

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

Kubisch C, Wicklein EM, Jentsch TJ. Kubisch C, et al. Hum Mutat. 1998;12(1):27-32. doi: 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#. Hum Mutat. 1998. PMID: 9633816

6

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. Kubisch C, et al. Hum Mol Genet. 1998 Oct;7(11):1753-60. doi: 10.1093/hmg/7.11.1753. Hum Mol Genet. 1998. PMID: 9736777

7

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Schroeder BC, et al. Among authors: kubisch c. Nature. 1998 Dec 17;396(6712):687-90. doi: 10.1038/25367. Nature. 1998. PMID: 9872318

8

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ. Kubisch C, et al. Cell. 1999 Feb 5;96(3):437-46. doi: 10.1016/s0092-8674(00)80556-5. Cell. 1999. PMID: 10025409 Free article.

9

Phenotypic variability in rippling muscle disease.

Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Among authors: kubisch c. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634

10

KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents.

Schroeder BC, Hechenberger M, Weinreich F, Kubisch C, Jentsch TJ. Schroeder BC, et al. Among authors: kubisch c. J Biol Chem. 2000 Aug 4;275(31):24089-95. doi: 10.1074/jbc.M003245200. J Biol Chem. 2000. PMID: 10816588 Free article.

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