Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression

X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity

Raimund Dutzler, Ernest B. Campbell, Martine Cadène et al. · Nature · 2002 · 1.6K citations

Natural Sciences, Biochemistry, Chemistry +17

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Manuela C. Koch, Klaus Steinmeyer, C Lorenz et al. · Science · 1992 · 712 citations

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

Christof Meyer-Kleine, Klaus Steinmeyer, K. Ricker et al. · PubMed · 1995 · 165 citations

Life Sciences, Genetics, Molecular Genetics +10

Transmembrane topology of a CLC chloride channel

Thomas Schmidt‐Rose, Thomas J. Jentsch · Proceedings of the National Academy of Sciences · 1997 · 114 citations

Natural Sciences, Biochemistry, Molecular Biology +17

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

Alfred L. George, Karen Sloan‐Brown, Gerald M. Fenichel et al. · PubMed · 1994 · 98 citations

Life Sciences, Genetics, Molecular Genetics +16