ClC1

1

Imbrici P et al. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
FASEB J., 2016 Jun 20 , ().

2

Riisager A et al. Protein kinase C dependent regulation of ClC-1 channels in active human muscle and its effect on fast and slow gating.
J. Physiol. (Lond.), 2016 Feb 9 , ().

3

Pedersen TH et al. Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle.
J. Gen. Physiol., 2016 Apr , 147 (291-308).

4

Imbrici P et al. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
J. Physiol. (Lond.), 2015 Sep 15 , 593 (4181-99).

5

Portaro S et al. Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
Neuromolecular Med., 2015 Sep , 17 (285-96).

6

Torbergsen T et al. Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Muscle Nerve, 2015 Oct , 52 (680-3).

7

Yoshinaga H et al. Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Pediatr. Neurol., 2015 May , 52 (504-8).

8

Skov M et al. Extracellular magnesium and calcium reduce myotonia in isolated ClC-1 chloride channel-inhibited human muscle.
Muscle Nerve, 2015 Jan , 51 (65-71).

9

Cannon SC Channelopathies of skeletal muscle excitability.
Compr Physiol, 2015 Apr , 5 (761-90).

10

Bugiardini E et al. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
Neuromuscul. Disord., 2015 Apr , 25 (301-7).

11

Imbrici P et al. ClC-1 chloride channels: state-of-the-art research and future challenges.
Front Cell Neurosci, 2015 , 9 (156).

12

Ronstedt K et al. Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Sci Rep, 2015 , 5 (15382).

13

Chen YA et al. The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels.
Sci Rep, 2015 , 5 (10667).

14

Licchetta L et al. Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?
Epileptic Disord, 2014 Sep , 16 (362-5).

15

Riisager A et al. Determination of cable parameters in skeletal muscle fibres during repetitive firing of action potentials.
J. Physiol. (Lond.), 2014 Oct 15 , 592 (4417-29).

16

Cozzoli A et al. Angiotensin II modulates mouse skeletal muscle resting conductance to chloride and potassium ions and calcium homeostasis via the AT1 receptor and NADPH oxidase.
Am. J. Physiol., Cell Physiol., 2014 Oct 1 , 307 (C634-47).

17

Hoche F et al. Novel N-terminal truncating CLCN1 mutation in severe Becker disease.
Muscle Nerve, 2014 Nov , 50 (866-7).

18

Furby A et al. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Neuromuscul. Disord., 2014 Nov , 24 (953-9).

19

Ulzi G et al. In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
Mol. Biol. Rep., 2014 May , 41 (2865-74).

20

Dabby R et al. Myotonia in DNM2-related centronuclear myopathy.
J Neural Transm, 2014 May , 121 (549-53).

21

Stölting G et al. ClC-1 and ClC-2 form hetero-dimeric channels with novel protopore functions.
Pflugers Arch., 2014 Mar 19 , ().

22

Kubota T et al. [Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels].
Rinsho Byori, 2014 Mar , 62 (246-54).

23

Ha K et al. Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.
Mol. Cells, 2014 Mar , 37 (202-12).

24

Tan SV et al. Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Muscle Nerve, 2014 Jun , 49 (845-57).

25

Liang W et al. Swelling-activated Cl- currents and intracellular CLC-3 are involved in proliferation of human pulmonary artery smooth muscle cells.
J. Hypertens., 2014 Feb , 32 (318-30).

26

Li HF et al. Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
Neurosci Bull, 2014 Dec , 30 (1010-6).

27

Cardani R et al. Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.
Neuromuscul. Disord., 2014 Dec , 24 (1042-53).

28

Camerino GM et al. Protein kinase C theta (PKCθ) modulates the ClC-1 chloride channel activity and skeletal muscle phenotype: a biophysical and gene expression study in mouse models lacking the PKCθ.
Pflugers Arch., 2014 Dec , 466 (2215-28).

29

Kassardjian CD et al. Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.
Neurogenetics, 2014 Aug , 15 (213-4).

30

Richardson RC et al. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Muscle Nerve, 2014 Apr , 49 (593-600).

31

Passeri E et al. Asymptomatic myotonia congenita unmasked by severe hypothyroidism.
Neuromuscul. Disord., 2014 Apr , 24 (365-7).

32

Marson FA et al. Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.
BMC Med. Genet., 2014 , 15 (27).

33

Gandolfi B et al. A novel mutation in CLCN1 associated with feline myotonia congenita.
PLoS ONE, 2014 , 9 (e109926).

34

Stölting G et al. CLC channel function and dysfunction in health and disease.
Front Physiol, 2014 , 5 (378).

35

Pierno S et al. Paracrine effects of IGF-1 overexpression on the functional decline due to skeletal muscle disuse: molecular and functional evaluation in hindlimb unloaded MLC/mIgf-1 transgenic mice.
PLoS ONE, 2014 , 8 (e65167).

36

Cheng W et al. Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics.
PLoS ONE, 2014 , 9 (e103445).

37

Zhang Y et al. Lactobacillus casei reduces susceptibility to type 2 diabetes via microbiota-mediated body chloride ion influx.
Sci Rep, 2014 , 4 (5654).

38

Hoppe K et al. In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.
Acta Anaesthesiol Scand, 2013 Sep , 57 (1017-23).

39

Desaphy JF et al. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
Exp. Neurol., 2013 Oct , 248 (530-40).

40

Burge JA et al. Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle.
Muscle Nerve, 2013 Oct , 48 (589-91).

41

Lucchiari S et al. Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
J. Physiol. Pharmacol., 2013 Oct , 64 (669-78).

42

Yamada T et al. Regulatory phosphorylation induces extracellular conformational changes in a CLC anion channel.
Biophys. J., 2013 May 7 , 104 (1893-904).

43

Pierno S et al. An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function.
Age (Dordr), 2013 May 30 , ().

44

Waters CW et al. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Proc. Natl. Acad. Sci. U.S.A., 2013 May 28 , 110 (9160-5).

45

Chen TT et al. Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Neurology, 2013 Mar 19 , 80 (1078-85).

46

DiFranco M et al. Age-dependent chloride channel expression in skeletal muscle fibres of normal and HSA(LR) myotonic mice.
J. Physiol. (Lond.), 2013 Mar 1 , 591 (1347-71).

47

Lakraj AA et al. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Yale J Biol Med, 2013 Mar , 86 (101-6).

48

Borges AS et al. Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.
Neuromuscul. Disord., 2013 Mar , 23 (206-13).

49

Brugnoni R et al. 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 Jun 6 , ().

50

Skov M et al. Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle.
Neuromuscul. Disord., 2013 Jun , 23 (489-502).

51

Nam TS et al. An algorithm for candidate sequencing in non-dystrophic skeletal muscle channelopathies.
J. Neurol., 2013 Jul , 260 (1770-7).

52

de Paoli FV et al. Relationship between membrane Cl- conductance and contractile endurance in isolated rat muscles.
J. Physiol. (Lond.), 2013 Jan 15 , 591 (531-45).

53

Arnaiz I et al. Changing expression of chloride channels during preimplantation mouse development.
Reproduction, 2013 Jan , 145 (73-84).

54

Portaro S et al. Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.
Neuromuscul. Disord., 2013 Jan , 23 (52-5).

55

Ivanova EA et al. [Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of Thomsen's and Becker's myotonias in Russian population].
Genetika, 2013 Dec , 49 (1407-15).

56

Morrow JM et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Neuromuscul. Disord., 2013 Aug , 23 (637-46).

57

Horga A et al. Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology, 2013 Apr 16 , 80 (1472-5).

58

Ishiura S et al. [Myotonic dystrophy].
Rinsho Shinkeigaku, 2013 , 53 (1109-11).

59

Oana K et al. Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.
Sci Rep, 2013 , 3 (2142).

60

Lee TT et al. Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
PLoS ONE, 2013 , 8 (e55930).

61

Hehir MK et al. Double trouble in a patient with myotonia.
BMJ Case Rep, 2013 , 2013 ().

62

Skálová D et al. CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel.
PLoS ONE, 2013 , 8 (e82549).

63

Bennetts B et al. Molecular determinants of common gating of a ClC chloride channel.
Nat Commun, 2013 , 4 (2507).

64

Koebis M et al. Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice.
Sci Rep, 2013 , 3 (2242).

65

Sasaki R et al. [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
Rinsho Shinkeigaku, 2013 , 53 (316-9).

66

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Genetika, 2012 Sep , 48 (1113-23).

67

Miyazaki H et al. CLC anion channel regulatory phosphorylation and conserved signal transduction domains.
Biophys. J., 2012 Oct 17 , 103 (1706-18).

68

Ursu SF et al. ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.
Acta Myol, 2012 Oct , 31 (144-53).

69

Cardani R et al. Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.
J. Neurol., 2012 Oct , 259 (2090-9).

70

Raheem O et al. New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
Neurology, 2012 Nov 27 , 79 (2194-200).

71

Howery AE et al. A designed inhibitor of a CLC antiporter blocks function through a unique binding mode.
Chem. Biol., 2012 Nov 21 , 19 (1460-70).

72

Mazón MJ et al. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Neuromuscul. Disord., 2012 Mar , 22 (231-43).

73

Raja Rayan DL et al. A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Neurology, 2012 Jun 12 , 78 (1953-8).

74

Bennetts B et al. Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.
J. Biol. Chem., 2012 Jul 27 , 287 (25808-20).

75

Stauber T et al. Cell biology and physiology of CLC chloride channels and transporters.
Compr Physiol, 2012 Jul , 2 (1701-44).

76

Gurgel-Giannetti J et al. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Muscle Nerve, 2012 Feb , 45 (279-83).

77

Li D et al. Cryptococcus neoformans Ca(2+) homeostasis requires a chloride channel/antiporter Clc1 in JEC21, but not in H99.
FEMS Yeast Res., 2012 Feb , 12 (69-77).

78

Chen ZT et al. [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012 Dec , 29 (690-2).

79

Richman DP et al. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
Neuromolecular Med., 2012 Dec , 14 (328-37).

80

Renaud JM et al. Lessons learned from muscle fatigue: implications for treatment of patients with hyperkalemic periodic paralysis.
Recent Pat Biotechnol, 2012 Dec , 6 (184-91).

81

Weinberger S et al. Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
J. Physiol. (Lond.), 2012 Aug 1 , 590 (3449-64).

82

Du H et al. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.
Eye (Lond), 2012 Aug , 26 (1039-43).

83

Ulzi G et al. Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients.
, 2012 Apr 20 , ().

84

Wijnberg ID et al. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Neuromuscul. Disord., 2012 Apr , 22 (361-7).

85

Zielonka D et al. A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
Neuromuscul. Disord., 2012 Apr , 22 (355-60).

86

Lippiat JD et al. The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease.
Front Physiol, 2012 , 3 (449).

87

Lehmann-Horn F et al. A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Acta Myol, 2011 Oct , 30 (133-7).

88

Burge JA et al. Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies.
, 2011 Nov 15 , ().

89

Lamb GD et al. On the localization of ClC-1 in skeletal muscle fibers.
J. Gen. Physiol., 2011 Mar , 137 (327-9; author reply 331-3).

90

Staunton L et al. Identification of secondary effects of hyperexcitability by proteomic profiling of myotonic mouse muscle.
, 2011 Jun 1 , ().

91

Ma L et al. Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location.
Biochem. J., 2011 Jun 1 , 436 (415-28).

92

DiFranco M et al. Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers.
J. Gen. Physiol., 2011 Jan , 137 (21-41).

93

Fallah G et al. TMEM16A(a)/anoctamin-1 shares a homodimeric architecture with CLC chloride channels.
Mol. Cell Proteomics, 2011 Feb , 10 (M110.004697).

94

Modoni A et al. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
J Clin Neurophysiol, 2011 Feb , 28 (39-44).

95

Sun C et al. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
Clin. Genet., 2011 Dec , 80 (574-80).

96

Tsujino A et al. A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
Neurosci. Lett., 2011 Apr 25 , 494 (155-60).

97

Tseng PY et al. Binding of ATP to the CBS domains in the C-terminal region of CLC-1.
J. Gen. Physiol., 2011 Apr , 137 (357-68).

98

van Lunteren E et al. Fatigue-inducing stimulation resolves myotonia in a drug-induced model.
BMC Physiol., 2011 , 11 (5).

99

Simske JS et al. Claudin family proteins in Caenorhabditis elegans.
Methods Mol. Biol., 2011 , 762 (147-69).

100

Tang CY et al. Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
J. Biomed. Biotechnol., 2011 , 2011 (685328).

101

Gao F et al. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Neurol India, 2010 Sep-Oct , 58 (743-6).

102

Lyons MJ et al. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
Pediatr. Neurol., 2010 May , 42 (365-8).

103

Kim KX et al. Inward-rectifier chloride currents in Reissner's membrane epithelial cells.
, 2010 Mar 9 , ().

104

Kumar KR et al. A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
Muscle Nerve, 2010 Mar , 41 (412-5).

105

Cao L et al. Chloride channels and transporters in human corneal epithelium.
Exp. Eye Res., 2010 Jun , 90 (771-9).

106

Desaphy JF et al. Antioxidant treatment of hindlimb-unloaded mouse counteracts fiber type transition but not atrophy of disused muscles.
Pharmacol. Res., 2010 Jun , 61 (553-63).

107

Cederholm JM et al. Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.
Int. J. Biochem. Cell Biol., 2010 Jul , 42 (1182-8).

108

Kornblum C et al. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.
Acta Neurol. Scand., 2010 Feb , 121 (131-5).

109

de Paoli FV et al. Lactate per se improves the excitability of depolarized rat skeletal muscle by reducing the Cl- conductance.
J. Physiol. (Lond.), 2010 Dec 1 , 588 (4785-94).

110

Lueck JD et al. Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.
J. Gen. Physiol., 2010 Dec , 136 (597-613).

111

Tian M et al. Chloride channels regulate chondrogenesis in chicken mandibular mesenchymal cells.
Arch. Oral Biol., 2010 Dec , 55 (938-45).

112

Shalata A et al. Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
Muscle Nerve, 2010 Apr , 41 (464-9).

113

Hsiao KM et al. Functional study of CLC-1 mutants expressed in Xenopus oocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator.
Cell. Physiol. Biochem., 2010 , 25 (687-94).

114

Yu Z et al. Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice.
Dis Model Mech, 2009 Sep-Oct , 2 (500-7).

115

Arzel-Hézode M et al. Homozygosity for dominant mutations increases severity of muscle channelopathies.
Muscle Nerve, 2009 Oct 30 , ().

116

Kino Y et al. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1.
Nucleic Acids Res., 2009 Oct , 37 (6477-90).

117

Pedersen TH et al. Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers.
J. Gen. Physiol., 2009 Oct , 134 (309-22).

118

Pedersen TH et al. Comparison of regulated passive membrane conductance in action potential-firing fast- and slow-twitch muscle.
J. Gen. Physiol., 2009 Oct , 134 (323-37).

119

Dupré N et al. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Neuromuscul. Disord., 2009 May , 19 (330-4).

120

Jung J et al. Allelic-based gene-gene interaction associated with quantitative traits.
Genet. Epidemiol., 2009 May , 33 (332-43).

121

Ma L et al. Functional study of cytoplasmic loops of human skeletal muscle chloride channel, hClC-1.
Int. J. Biochem. Cell Biol., 2009 Jun , 41 (1402-9).

122

Trip J et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
J. Neurol. Neurosurg. Psychiatr., 2009 Jun , 80 (647-52).

123

Moon IS et al. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
J. Korean Med. Sci., 2009 Dec , 24 (1038-44).

124

Osborne RJ et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.
Hum. Mol. Genet., 2009 Apr 15 , 18 (1471-81).

125

Zdebik AA Statins and fibrate target ClC-1 - from side effects to CLC pharmacology.
Br. J. Pharmacol., 2009 Apr , 156 (1204-5).

126

Pierno S et al. Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression.
Br. J. Pharmacol., 2009 Apr , 156 (1206-15).

127

Mankodi A Myotonic disorders.
, 2008 Jul-Sep , 56 (298-304).

128

Hou J et al. ClC chloride channels in tooth germ and odontoblast-like MDPC-23 cells.
Arch. Oral Biol., 2008 Sep , 53 (874-8).

129

Zhang XD et al. ATP inhibition of CLC-1 is controlled by oxidation and reduction.
J. Gen. Physiol., 2008 Oct , 132 (421-8).

130

Cleland JC et al. Treatment of neuromuscular channelopathies: current concepts and future prospects.
, 2008 Oct , 5 (607-12).

131

Thomas J et al. Recessive CLCN1 mutation presenting as Thomsen disease.
Muscle Nerve, 2008 Nov , 38 (1515-7).

132

Suominen T et al. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
J. Neurol., 2008 Nov , 255 (1731-6).

133

Fialho D et al. Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.
Neuromuscul. Disord., 2008 Nov , 18 (869-72).

134

Cañero DC et al. Influence of the chloride channel of Fusarium oxysporum on extracellular laccase activity and virulence on tomato plants.
Microbiology (Reading, Engl.), 2008 May , 154 (1474-81).

135

Papponen H et al. F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
Muscle Nerve, 2008 Mar , 37 (317-25).

136

Morales F et al. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
Rev. Biol. Trop., 2008 Mar , 56 (1-11).

137

Graves AR et al. The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.
Nature, 2008 Jun 5 , 453 (788-92).

138

Wakeman B et al. Extraocular muscle hypertrophy in myotonia congenita.
, 2008 Jun , 12 (294-6).

139

Ma L et al. Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1.
Biochem. J., 2008 Jul 1 , 413 (61-9).

140

Lin MJ et al. Functional studies of the effect of NO donor on human CLCN1 polymorphism/mutants expressed in Xenopus laevis oocytes.
Biochem. Biophys. Res. Commun., 2008 Jan 25 , 365 (724-8).

141

Cherian A et al. Muscle channelopathies and electrophysiological approach.
Ann Indian Acad Neurol, 2008 Jan , 11 (20-7).

142

Zdebik AA et al. Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
J. Biol. Chem., 2008 Feb 15 , 283 (4219-27).

143

Morales F et al. Gene symbol: CLCN1. Disease: Myotonia congenita.
Hum. Genet., 2008 Feb , 123 (104-5).

144

Hao M et al. Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy.
Dev. Dyn., 2008 Feb , 237 (403-10).

145

Bernard G et al. Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
J. Child Neurol., 2008 Feb , 23 (163-6).

146

Zifarelli G et al. The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP.
J. Gen. Physiol., 2008 Feb , 131 (109-16).

147

Trip J et al. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Eur. J. Hum. Genet., 2008 Aug , 16 (921-9).

148

Burgunder JM et al. Novel chloride channel mutations leading to mild myotonia among Chinese.
Neuromuscul. Disord., 2008 Aug , 18 (633-40).

149

Diédhiou CJ et al. The SNF1-type serine-threonine protein kinase SAPK4 regulates stress-responsive gene expression in rice.
BMC Plant Biol., 2008 , 8 (49).

150

Lossin C et al. Myotonia congenita.
Adv. Genet., 2008 , 63 (25-55).

151

Finnigan DF et al. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.
J. Vet. Intern. Med., 2007 May-Jun , 21 (458-63).

152

Hoffert JD et al. An automated platform for analysis of phosphoproteomic datasets: application to kidney collecting duct phosphoproteins.
J. Proteome Res., 2007 Sep , 6 (3501-8).

153

Mitchell CW et al. Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases.
, 2007 Sep , 88 (1212-3).

154

Bennetts B et al. Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP.
J. Biol. Chem., 2007 Nov 9 , 282 (32780-91).

155

Rossignol E et al. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Neurology, 2007 Nov 13 , 69 (1937-41).

156

Morales F et al. Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Hum. Genet., 2007 Nov , 122 (413).

157

Michel P et al. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.
Muscle Nerve, 2007 Nov , 36 (643-50).

158

van Lunteren E et al. Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties.
, 2007 Mar 15 , 155 (220-6).

159

van Lunteren E et al. Isotonic contractile impairment due to genetic CLC-1 chloride channel deficiency in myotonic mouse diaphragm muscle.
Exp. Physiol., 2007 Jul , 92 (717-29).

160

Liantonio A et al. Niflumic acid inhibits chloride conductance of rat skeletal muscle by directly inhibiting the CLC-1 channel and by increasing intracellular calcium.
Br. J. Pharmacol., 2007 Jan , 150 (235-47).

161

Lueck JD et al. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
J. Gen. Physiol., 2007 Jan , 129 (79-94).

162

Fialho D et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Brain, 2007 Dec , 130 (3265-74).

163

Wheeler TM et al. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.
J. Clin. Invest., 2007 Dec , 117 (3952-7).

164

Chang TY et al. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
Acta Neurol Taiwan, 2007 Dec , 16 (214-20).

165

Tseng PY et al. Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH.
J. Gen. Physiol., 2007 Aug , 130 (217-21).

166

Chen W et al. Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy.
J. Mol. Biol., 2007 Apr 20 , 368 (8-17).

167

Macías MJ et al. Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.
Biochem. J., 2007 Apr 1 , 403 (79-87).

168

Cooper TA Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1".
Am. J. Physiol., Cell Physiol., 2007 Apr , 292 (C1245-7).

169

Lueck JD et al. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
Am. J. Physiol., Cell Physiol., 2007 Apr , 292 (C1291-7).

170

Botta A et al. Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.
Gene Expr., 2007 , 13 (339-51).

171

Zifarelli G et al. CLC chloride channels and transporters: a biophysical and physiological perspective.
Rev. Physiol. Biochem. Pharmacol., 2007 , 158 (23-76).

172

Ignoul S et al. Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains.
PLoS ONE, 2007 , 2 (e474).

173

McKay OM et al. Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation.
Clin Neurophysiol, 2006 Sep , 117 (2064-8).

174

Eguchi H et al. Acetazolamide acts directly on the human skeletal muscle chloride channel.
Muscle Nerve, 2006 Sep , 34 (292-7).

175

Yu Z et al. Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model.
J. Clin. Invest., 2006 Oct , 116 (2663-72).

176

Aromataris EC et al. ClC-1 chloride channel: Matching its properties to a role in skeletal muscle.
Clin. Exp. Pharmacol. Physiol., 2006 Nov , 33 (1118-23).

177

Kuo HC et al. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
Acta Neurol. Scand., 2006 May , 113 (342-6).

178

Li WY et al. Tonoplast-located GmCLC1 and GmNHX1 from soybean enhance NaCl tolerance in transgenic bright yellow (BY)-2 cells.
Plant Cell Environ., 2006 Jun , 29 (1122-37).

179

Lobet S et al. Ion-binding properties of the ClC chloride selectivity filter.
EMBO J., 2006 Jan 11 , 25 (24-33).

180

Pusch M et al. Channel or transporter? The CLC saga continues.
Exp. Physiol., 2006 Jan , 91 (149-52).

181

Nakamura A et al. Molecular cloning, functional expression and subcellular localization of two putative vacuolar voltage-gated chloride channels in rice (Oryza sativa L.).
Plant Cell Physiol., 2006 Jan , 47 (32-42).

182

Lin MJ et al. Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
Biochem. Biophys. Res. Commun., 2006 Dec 29 , 351 (1043-7).

183

De Angeli A et al. The nitrate/proton antiporter AtCLCa mediates nitrate accumulation in plant vacuoles.
Nature, 2006 Aug 24 , 442 (939-42).

184

Wu W et al. Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.
Biochem. J., 2006 Apr 1 , 395 (89-97).

185

Becq F On the discovery and development of CFTR chloride channel activators.
Curr. Pharm. Des., 2006 , 12 (471-84).

186

Bennetts B et al. Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.
J. Biol. Chem., 2005 Sep 16 , 280 (32452-8).

187

Hebeisen S et al. Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels.
Biophys. J., 2005 Sep , 89 (1710-20).

188

Duffield MD et al. Zinc inhibits human ClC-1 muscle chloride channel by interacting with its common gating mechanism.
J. Physiol. (Lond.), 2005 Oct 1 , 568 (5-12).

189

Comes N et al. Differential expression of the human chloride channel genes in the trabecular meshwork under stress conditions.
Exp. Eye Res., 2005 Jun , 80 (801-13).

190

Picollo A et al. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.
Nature, 2005 Jul 21 , 436 (420-3).

191

Colding-Jørgensen E Phenotypic variability in myotonia congenita.
Muscle Nerve, 2005 Jul , 32 (19-34).

192

Wang X et al. Activity-dependent presynaptic regulation of quantal size at the mammalian neuromuscular junction in vivo.
J. Neurosci., 2005 Jan 12 , 25 (343-51).

193

Papponen H et al. Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Exp. Neurol., 2005 Jan , 191 (163-73).

194

Pedersen TH et al. Increased excitability of acidified skeletal muscle: role of chloride conductance.
J. Gen. Physiol., 2005 Feb , 125 (237-46).

195

de Santiago JA et al. Quantitative analysis of the voltage-dependent gating of mouse parotid ClC-2 chloride channel.
J. Gen. Physiol., 2005 Dec , 126 (591-603).

196

Dunø M et al. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
Eur. J. Hum. Genet., 2004 Sep , 12 (738-43).

197

Chen L et al. Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.
Muscle Nerve, 2004 May , 29 (670-6).

198

Hebeisen S et al. The role of the carboxyl terminus in ClC chloride channel function.
J. Biol. Chem., 2004 Mar 26 , 279 (13140-7).

199

Estévez R et al. Functional and structural conservation of CBS domains from CLC chloride channels.
J. Physiol. (Lond.), 2004 Jun 1 , 557 (363-78).

200

Yamamoto-Mizuma S et al. Altered properties of volume-sensitive osmolyte and anion channels (VSOACs) and membrane protein expression in cardiac and smooth muscle myocytes from Clcn3-/- mice.
J. Physiol. (Lond.), 2004 Jun 1 , 557 (439-56).

201

Jou SB et al. Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
J. Neurol., 2004 Jun , 251 (666-70).

202

Zhang XD et al. Expression of novel isoforms of the CIC-1 chloride channel in astrocytic glial cells in vitro.
Glia, 2004 Jul , 47 (46-57).

203

Lamont PJ et al. An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.
J. Neurol. Neurosurg. Psychiatr., 2004 Feb , 75 (343).

204

Corry B et al. Conduction mechanisms of chloride ions in ClC-type channels.
Biophys. J., 2004 Feb , 86 (846-60).

205

Davies N et al. Chloride channel gene expression in the rabbit cornea.
Mol. Vis., 2004 Dec 30 , 10 (1028-37).

206

Berg J et al. Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.
Neurology, 2004 Dec 28 , 63 (2371-5).

207

Simpson BJ et al. Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
Hum. Mutat., 2004 Aug , 24 (185).

208

Idnurm A et al. Cryptococcus neoformans virulence gene discovery through insertional mutagenesis.
Eukaryotic Cell, 2004 Apr , 3 (420-9).

209

Duffield M et al. Involvement of helices at the dimer interface in ClC-1 common gating.
J. Gen. Physiol., 2003 Feb , 121 (149-61).

210

Grunnet M et al. Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
Muscle Nerve, 2003 Dec , 28 (722-32).

211

Liantonio A et al. Structural requisites of 2-(p-chlorophenoxy)propionic acid analogues for activity on native rat skeletal muscle chloride conductance and on heterologously expressed CLC-1.
Br. J. Pharmacol., 2003 Aug , 139 (1255-64).

212

Maduke M et al. The poststructural festivities begin.
Neuron, 2003 Apr 10 , 38 (1-3).

213

Estévez R et al. Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
Neuron, 2003 Apr 10 , 38 (47-59).

214

Colding-Jørgensen E et al. Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Muscle Nerve, 2003 Apr , 27 (449-55).

215

Pusch M et al. Mechanisms of block of muscle type CLC chloride channels (Review).
Mol. Membr. Biol., 2002 Oct-Dec , 19 (285-92).

216

Warnstedt M et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.
J. Neurosci., 2002 Sep 1 , 22 (7462-70).

217

Kulka M et al. Mast cells express chloride channels of the ClC family.
Inflamm. Res., 2002 Sep , 51 (451-6).

218

Shirakawa T et al. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
Neurology, 2002 Oct 8 , 59 (1091-4).

219

Wu FF et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Brain, 2002 Nov , 125 (2392-407).

220

Wu H et al. Activation of the MEF2 transcription factor in skeletal muscles from myotonic mice.
J. Clin. Invest., 2002 May , 109 (1327-33).

221

Zhang XD et al. [Effect of extracellular chloride concentration on deactivation kinetics of rat ClC-1 chloride channel]
, 2002 Jun 25 , 54 (196-200).

222

Pierno S et al. Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse.
Brain, 2002 Jul , 125 (1510-21).

223

Mankodi A et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.
Mol. Cell, 2002 Jul , 10 (35-44).

224

Charlet-B N et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
Mol. Cell, 2002 Jul , 10 (45-53).

225

Ryan A et al. A novel alteration of muscle chloride channel gating in myotonia levior.
J. Physiol. (Lond.), 2002 Dec 1 , 545 (345-54).

226

Rogers CS et al. Functional repair of a mutant chloride channel using a trans-splicing ribozyme.
J. Clin. Invest., 2002 Dec , 110 (1783-9).

227

Liantonio A et al. Molecular requisites for drug binding to muscle CLC-1 and renal CLC-K channel revealed by the use of phenoxy-alkyl derivatives of 2-(p-chlorophenoxy)propionic acid.
Mol. Pharmacol., 2002 Aug , 62 (265-71).

228

Pusch M Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Hum. Mutat., 2002 Apr , 19 (423-34).

229

Dołowy K et al. [Role and function of voltage-gated chloride channels of the CIC family and their defects leading to genetic diseases]
, 2002 , 56 (307-13).

230

Vandewalle A [Function of the CLC chloride channels and their implication in human pathology]
, 2002 , 23 (113-8).

231

Kuchenbecker M et al. Topology of the human skeletal muscle chloride channel hClC-1 probed with hydrophilic epitope insertion.
Pflugers Arch., 2001 Nov , 443 (280-8).

232

Sasaki R et al. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Muscle Nerve, 2001 Mar , 24 (357-63).

233

Prince LS et al. KGF alters gene expression in human airway epithelia: potential regulation of the inflammatory response.
Physiol. Genomics, 2001 Jul 17 , 6 (81-9).

234

Aromataris EC et al. Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations.
Mol. Pharmacol., 2001 Jul , 60 (200-8).

235

Chen MF et al. Different fast-gate regulation by external Cl(-) and H(+) of the muscle-type ClC chloride channels.
J. Gen. Physiol., 2001 Jul , 118 (23-32).

236

Pusch M et al. Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(p-chlorophenoxy)butyric acid (CPB).
J. Gen. Physiol., 2001 Jul , 118 (45-62).

237

Weinreich F et al. Pores formed by single subunits in mixed dimers of different CLC chloride channels.
J. Biol. Chem., 2001 Jan 26 , 276 (2347-53).

238

Fahlke C et al. Residues lining the inner pore vestibule of human muscle chloride channels.
J. Biol. Chem., 2001 Jan 19 , 276 (1759-65).

239

Rychkov GY et al. Interaction of hydrophobic anions with the rat skeletal muscle chloride channel ClC-1: effects on permeation and gating.
J. Physiol. (Lond.), 2001 Feb 1 , 530 (379-93).

240

Sun C et al. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Eur. J. Hum. Genet., 2001 Dec , 9 (903-9).

241

Bennetts B et al. Temperature dependence of human muscle ClC-1 chloride channel.
J. Physiol. (Lond.), 2001 Aug 15 , 535 (83-93).

242

Tieleman DP et al. Proline-induced hinges in transmembrane helices: possible roles in ion channel gating.
Proteins, 2001 Aug 1 , 44 (63-72).

243

Accardi A et al. Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S.
J. Physiol. (Lond.), 2001 Aug 1 , 534 (745-52).

244

Thakker RV Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
Exp. Nephrol., 2000 Nov-Dec , 8 (351-60).

245

Pusch M et al. Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives.
Mol. Pharmacol., 2000 Sep , 58 (498-507).

246

Accardi A et al. Fast and slow gating relaxations in the muscle chloride channel CLC-1.
J. Gen. Physiol., 2000 Sep , 116 (433-44).

247

Lin CW et al. Cysteine modification of a putative pore residue in ClC-0: implication for the pore stoichiometry of ClC chloride channels.
J. Gen. Physiol., 2000 Oct , 116 (535-46).

248

Pauli BU et al. Molecular characteristics and functional diversity of CLCA family members.
Clin. Exp. Pharmacol. Physiol., 2000 Nov , 27 (901-5).

249

Fahlke C Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.
Kidney Int., 2000 Mar , 57 (780-6).

250

Zhang J et al. Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
J. Biol. Chem., 2000 Jan 28 , 275 (2999-3005).

251

Zhang J et al. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
Neurology, 2000 Feb 22 , 54 (937-42).

252

Kimura T et al. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy.
Neurosci. Lett., 2000 Dec 8 , 295 (93-6).

253

Nagamitsu S et al. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
Neurology, 2000 Dec 12 , 55 (1697-703).

254

Qu Z et al. Anion permeation in Ca(2+)-activated Cl(-) channels.
J. Gen. Physiol., 2000 Dec , 116 (825-44).

255

de Diego C et al. Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
J. Neurol., 1999 Sep , 246 (825-9).

256

Schriever AM et al. CLC chloride channels in Caenorhabditis elegans.
J. Biol. Chem., 1999 Nov 26 , 274 (34238-44).

257

Petalcorin MI et al. Disruption of clh-1, a chloride channel gene, results in a wider body of Caenorhabditis elegans.
J. Mol. Biol., 1999 Nov 26 , 294 (347-55).

258

Enz R et al. Expression of the voltage-gated chloride channel ClC-2 in rod bipolar cells of the rat retina.
J. Neurosci., 1999 Nov 15 , 19 (9841-7).

259

Brugnoni R et al. Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
Hum. Mutat., 1999 Nov , 14 (447).

260

Pusch M et al. Chloride dependence of hyperpolarization-activated chloride channel gates.
J. Physiol. (Lond.), 1999 Mar 1 , 515 ( Pt 2) (341-53).

261

Saviane C et al. The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia.
J. Gen. Physiol., 1999 Mar , 113 (457-68).

262

Lamb FS et al. Expression of CLCN voltage-gated chloride channel genes in human blood vessels.
J. Mol. Cell. Cardiol., 1999 Mar , 31 (657-66).

263

Papponen H et al. Founder mutations and the high prevalence of myotonia congenita in northern Finland.
Neurology, 1999 Jul 22 , 53 (297-302).

264

Rosenbohm A et al. Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C.
J. Physiol. (Lond.), 1999 Feb 1 , 514 ( Pt 3) (677-85).

265

Rich MM et al. Altered gene expression in steroid-treated denervated muscle.
Neurobiol. Dis., 1999 Dec , 6 (515-22).

266

Sasaki R et al. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.
Neuromuscul. Disord., 1999 Dec , 9 (587-92).

267

Chen MF et al. Role of phosphorylation and physiological state in the regulation of the muscular chloride channel ClC-1: a voltage-clamp study on isolated M. interosseus fibers.
Biochem. Biophys. Res. Commun., 1999 Aug 2 , 261 (528-33).

268

Kawasaki E et al. Single-cell RT-PCR demonstrates expression of voltage-dependent chloride channels (ClC-1, ClC-2 and ClC-3) in outer hair cells of rat cochlea.
Brain Res., 1999 Aug 14 , 838 (166-70).

269

Kürz LL et al. Identification of three cysteines as targets for the Zn2+ blockade of the human skeletal muscle chloride channel.
J. Biol. Chem., 1999 Apr 23 , 274 (11687-92).

270

Pierno S et al. Aging-associated down-regulation of ClC-1 expression in skeletal muscle: phenotypic-independent relation to the decrease of chloride conductance.
FEBS Lett., 1999 Apr 16 , 449 (12-6).

271

Kubisch C et al. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Hum. Mol. Genet., 1998 Oct , 7 (1753-60).

272

Rychkov GY et al. Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.
J. Gen. Physiol., 1998 May , 111 (653-65).

273

Thakker RV The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
Curr. Opin. Nephrol. Hypertens., 1998 Jul , 7 (385-8).

274

Hryciw DH et al. Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.
J. Biol. Chem., 1998 Feb 20 , 273 (4304-7).

275

Eggermont J The exon-intron architecture of human chloride channel genes is not conserved.
Biochim. Biophys. Acta, 1998 Apr 29 , 1397 (156-60).

276

Plassart-Schiess E et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
Neurology, 1998 Apr , 50 (1176-9).

277

Fong P et al. Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.
Am. J. Physiol., 1998 Apr , 274 (C966-73).

278

Mastaglia FL et al. Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.
J. Neurol. Neurosurg. Psychiatr., 1998 Apr , 64 (543-7).

279

Sangiuolo F et al. 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.
Hum. Mutat., 1998 , 11 (331).

280

Chu S et al. Alternative mRNA splice variants of the rat ClC-2 chloride channel gene are expressed in lung: genomic sequence and organization of ClC-2.
Nucleic Acids Res., 1997 Oct 15 , 25 (4153-9).

281

Chen MF et al. Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
J. Physiol. (Lond.), 1997 Oct 1 , 504 ( Pt 1) (75-81).

282

Schnülle V et al. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.
Mamm. Genome, 1997 Oct , 8 (718-25).

283

Fahlke C et al. Mechanism of ion permeation in skeletal muscle chloride channels.
J. Gen. Physiol., 1997 Nov , 110 (551-64).

284

Fahlke C et al. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
Proc. Natl. Acad. Sci. U.S.A., 1997 Mar 18 , 94 (2729-34).

285

Rychkov GY et al. pH-dependent interactions of Cd2+ and a carboxylate blocker with the rat C1C-1 chloride channel and its R304E mutant in the Sf-9 insect cell line.
J. Physiol. (Lond.), 1997 Jun 1 , 501 ( Pt 2) (355-62).

286

Schmidt-Rose T et al. Transmembrane topology of a CLC chloride channel.
Proc. Natl. Acad. Sci. U.S.A., 1997 Jul 8 , 94 (7633-8).

287

Fahlke C et al. Subunit stoichiometry of human muscle chloride channels.
J. Gen. Physiol., 1997 Jan , 109 (93-104).

288

Oshima T et al. Expression of voltage-dependent chloride channels in the rat cochlea.
Hear. Res., 1997 Jan , 103 (63-8).

289

Kürz L et al. Probing the major skeletal muscle chloride channel with Zn2+ and other sulfhydryl-reactive compounds.
Pflugers Arch., 1997 Jan , 433 (357-63).

290

Sloan Brown K et al. Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.
Neurology, 1997 Feb , 48 (542-3).

291

Schmidt-Rose T et al. Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.
J. Biol. Chem., 1997 Aug 15 , 272 (20515-21).

292

Ludewig U et al. Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions.
J. Gen. Physiol., 1997 Aug , 110 (165-71).

293

Ryan AM et al. Chromosomal assignment of six muscle-specific genes in cattle.
Anim. Genet., 1997 Apr , 28 (84-7).

294

Zhang J et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.
Neurology, 1996 Oct , 47 (993-8).

295

Lorenz C et al. Heteromultimeric CLC chloride channels with novel properties.
Proc. Natl. Acad. Sci. U.S.A., 1996 Nov 12 , 93 (13362-6).

296

Uchida S [Structure and function of ClC chloride channels]
Nippon Rinsho, 1996 Mar , 54 (667-71).

297

Uchida S et al. Chloride transport across kidney epithelia through CLC chloride channels.
, 1996 Jul , 38 (285-9).

298

Mailänder V et al. Novel muscle chloride channel mutations and their effects on heterozygous carriers.
Am. J. Hum. Genet., 1996 Feb , 58 (317-24).

299

Rychkov GY et al. Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
J. Physiol. (Lond.), 1996 Dec 1 , 497 ( Pt 2) (423-35).

300

Coca-Prados M et al. PKC-sensitive Cl- channels associated with ciliary epithelial homologue of pICln.
Am. J. Physiol., 1995 Mar , 268 (C572-9).

301

Jentsch TJ et al. Properties of voltage-gated chloride channels of the ClC gene family.
J. Physiol. (Lond.), 1995 Jan , 482 (19S-25S).

302

Meyer-Kleine C et al. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Am. J. Hum. Genet., 1995 Dec , 57 (1325-34).

303

Lehmann-Horn F et al. Myotonia levior is a chloride channel disorder.
Hum. Mol. Genet., 1995 Aug , 4 (1397-402).

304

Fahlke C et al. An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels.
Neuron, 1995 Aug , 15 (463-72).

305

Gurnett CA et al. Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
J. Biol. Chem., 1995 Apr 21 , 270 (9035-8).

306

Hudson AJ et al. The skeletal muscle sodium and chloride channel diseases.
Brain, 1995 Apr , 118 ( Pt 2) (547-63).

307

Jentsch TJ et al. Myotonias due to CLC-1 chloride channel mutations.
Soc. Gen. Physiol. Ser., 1995 , 50 (149-59).

308

Huang ME et al. A voltage-gated chloride channel in the yeast Saccharomyces cerevisiae.
J. Mol. Biol., 1994 Sep 30 , 242 (595-8).

309

Klocke R et al. Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.
J. Biol. Chem., 1994 Nov 4 , 269 (27635-9).

310

Schleef M et al. Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse.
Neuromuscul. Disord., 1994 May , 4 (205-17).

311

Meyer-Kleine C et al. A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).
Hum. Mol. Genet., 1994 Jun , 3 (1015-6).

312

Lorenz C et al. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
Hum. Mol. Genet., 1994 Jun , 3 (941-6).

313

Pusch M et al. Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
Biophys. J., 1994 Jan , 66 (149-52).

314

Gronemeier M et al. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
J. Biol. Chem., 1994 Feb 25 , 269 (5963-7).

315

Steinmeyer K et al. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
EMBO J., 1994 Feb 15 , 13 (737-43).

316

Koch MC et al. Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
J. Med. Genet., 1993 Nov , 30 (914-7).

317

Wischmeyer E et al. Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.
Neuromuscul. Disord., 1993 Jul , 3 (267-74).

318

Klocke R et al. Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.
Genomics, 1993 Dec , 18 (568-74).

319

Thiemann A et al. A chloride channel widely expressed in epithelial and non-epithelial cells.
Nature, 1992 Mar 5 , 356 (57-60).

320

Koch MC et al. The skeletal muscle chloride channel in dominant and recessive human myotonia.
Science, 1992 Aug 7 , 257 (797-800).

321

Steinmeyer K et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Nature, 1991 Nov 28 , 354 (304-8).