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

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. J Physiol (2015) 0.94

ClC-1 chloride channels: state-of-the-art research and future challenges. Front Cell Neurosci (2015) 0.84

Computational study of missense mutations in phenylalanine hydroxylase. J Mol Model (2015) 0.78

ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies. Front Pharmacol (2017) 0.75

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. FASEB J (2016) 0.75

VMD: visual molecular dynamics. J Mol Graph (1996) 117.02

I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc (2010) 22.66

Amino acid difference formula to help explain protein evolution. Science (1974) 15.19

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature (2002) 9.96

The nature of the accessible and buried surfaces in proteins. J Mol Biol (1976) 5.92

Gating the selectivity filter in ClC chloride channels. Science (2003) 5.55

Protein volume in solution. Prog Biophys Mol Biol (1972) 4.00

Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature (1996) 3.58

Homodimeric architecture of a ClC-type chloride ion channel. Nature (1996) 3.47

Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle. Science (2010) 3.00

Suggestions for "safe" residue substitutions in site-directed mutagenesis. J Mol Biol (1991) 2.80

Helix packing in polytopic membrane proteins: role of glycine in transmembrane helix association. Biophys J (1999) 2.49

Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax. Biochemistry (1994) 2.21

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J Gen Physiol (1999) 2.17

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J (1994) 2.08

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron (1995) 1.94

Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat (2002) 1.85

Myotonia congenita. Adv Genet (2008) 1.80

Fast and slow gating relaxations in the muscle chloride channel CLC-1. J Gen Physiol (2000) 1.73

Pores formed by single subunits in mixed dimers of different CLC chloride channels. J Biol Chem (2000) 1.60

Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol (2003) 1.49

Projection structure of a ClC-type chloride channel at 6.5 A resolution. Nature (2001) 1.41

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet (2008) 1.34

MOLEonline 2.0: interactive web-based analysis of biomacromolecular channels. Nucleic Acids Res (2012) 1.34

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet (1995) 1.34

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A (1997) 1.23

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet (1994) 1.22

Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain (2002) 1.22

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain (2007) 1.21

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet (1998) 1.20

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet (1994) 1.18

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet (2001) 1.17

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. Hum Mol Genet (1997) 1.11

Myotonia levior is a chloride channel disorder. Hum Mol Genet (1995) 1.04

Molecular pathophysiology of voltage-gated ion channels. Rev Physiol Biochem Pharmacol (1996) 1.03

Inter-subunit communication and fast gate integrity are important for common gating in hClC-1. Int J Biochem Cell Biol (2010) 0.95

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology (2000) 0.89

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscul Disord (2011) 0.89

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology (1996) 0.88

Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. Neuromolecular Med (2012) 0.88

Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations. Mol Pharmacol (2001) 0.86

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. Neurol India (2010) 0.85

Novel chloride channel mutations leading to mild myotonia among Chinese. Neuromuscul Disord (2008) 0.85

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet (2013) 0.84

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J Neurol Sci (2012) 0.84

Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve (2003) 0.80

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. Genetika (2012) 0.78

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. Clin Chim Acta (2013) 0.78

Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1. Biochem J (2008) 0.78

Functional study of cytoplasmic loops of human skeletal muscle chloride channel, hClC-1. Int J Biochem Cell Biol (2008) 0.77