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

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

10

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

11

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).

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

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

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

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

20

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).

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

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

27

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).

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

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

31

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

32

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

33

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

34

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

35

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

36

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).

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

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).

40

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).

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

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).

48

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).

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

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).

54

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

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

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).

59

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

60

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).

61

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

62

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

63

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

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

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

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

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).

69

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

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

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).

77

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).

78

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).

79

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).

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

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).

91

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

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

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).

94

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

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

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

99

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

100

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

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

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).

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

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).

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

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

122

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).

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

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).

133

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).

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

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).

136

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).

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

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

157

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

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).

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