| 1 |
33464536 | Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. | 2021 Nov |
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34852780 | Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel. | 2021 Dec 1 |
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| 3 |
32407401 | Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. | 2020 |
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| 4 |
31022181 | Structure of the human ClC-1 chloride channel. | 2019 Apr |
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| 5 |
31772215 | Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. | 2019 Nov 26 |
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| 6 |
29935101 | The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. | 2018 Sep |
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| 7 |
28557061 | Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia. | 2017 Jul |
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| 8 |
26260254 | Myotonia congenita: novel mutations in CLCN1 gene. | 2015 |
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| 9 |
24452722 | In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay. | 2014 May |
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| 10 |
24530047 | Asymptomatic myotonia congenita unmasked by severe hypothyroidism. | 2014 Apr |
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| 11 |
25339907 | CLC channel function and dysfunction in health and disease. | 2014 |
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| 12 |
23417379 | Double trouble in a patient with myotonia. | 2013 Feb 14 |
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| 13 |
23424641 | Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. | 2013 |
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| 14 |
23483815 | Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. | 2013 Mar |
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| 15 |
23603549 | [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]. | 2013 |
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| 16 |
24304580 | Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. | 2013 Oct |
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| 17 |
22641783 | Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. | 2012 Aug 1 |
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| 18 |
21204798 | Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. | 2011 Dec |
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| 19 |
21385601 | A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization. | 2011 Apr 25 |
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| 20 |
20398785 | Inter-subunit communication and fast gate integrity are important for common gating in hClC-1. | 2010 Jul |
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| 21 |
21045501 | Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. | 2010 Sep-Oct |
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| 22 |
18313341 | Extraocular muscle hypertrophy in myotonia congenita. | 2008 Jun |
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| 23 |
19185184 | Myotonia congenita. | 2008 |
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| 24 |
17215330 | 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". | 2007 Apr |
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| 25 |
17693413 | Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP. | 2007 Nov 9 |
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| 26 |
17708420 | Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. | 2007 |
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| 27 |
15786415 | Phenotypic variability in myotonia congenita. | 2005 Jul |
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| 28 |
12196568 | The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1. | 2002 Sep 1 |
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| 29 |
12390967 | Novel CLCN1 mutations with unique clinical and electrophysiological consequences. | 2002 Nov |
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| 30 |
11840191 | Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. | 2001 Dec |
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| 31 |
10644771 | Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. | 2000 Jan 28 |
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| 32 |
10690989 | Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. | 2000 Feb 22 |
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| 33 |
10525982 | Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families. | 1999 Sep |
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| 34 |
10533075 | Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. | 1999 Nov |
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| 35 |
9565403 | Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions. | 1998 May |
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| 36 |
10215406 | 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. | 1998 |
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| 37 |
8571958 | Novel muscle chloride channel mutations and their effects on heterozygous carriers. | 1996 Feb |
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| 38 |
7581380 | Myotonia levior is a chloride channel disorder. | 1995 Aug |
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| 39 |
8301644 | Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). | 1993 Nov |
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