(Q37417914)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

7

1 reference

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13 February 2020

Young-Chul Choi

8

1 reference

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13 February 2020

author name string

In-Soo Moon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Hyang-Sook Kim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Jin-Hong Shin

3

1 reference

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13 February 2020

Yeong-Eun Park

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Kyu-Hyun Park

5

1 reference

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13 February 2020

Yong-Bum Shin

6

1 reference

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13 February 2020

Dae-Seong Kim

9

1 reference

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13 February 2020

publication date

9 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

Journal of Korean Medical Science

13 February 2020

published in

1 reference

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13 February 2020

volume

24

1 reference

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13 February 2020

issue

6

1 reference

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13 February 2020

page(s)

1038-1044

1 reference

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Creative Commons Attribution-NonCommercial 3.0 Unported

13 February 2020

copyright license

start time

1 January 2009

1 reference

April 2022 Public Data File from Crossref

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Phenotypic variability in myotonia congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Gating the selectivity filter in ClC chloride channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Therapy in myotonic disorders and in muscle channelopathies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

The structure of a domain common to archaebacteria and the homocystinuria disease protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Novel muscle chloride channel mutations and their effects on heterozygous carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Myotonia levior is a chloride channel disorder.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

The skeletal muscle chloride channel in dominant and recessive human myotonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Molecular pathophysiology of voltage-gated ion channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Functional and structural conservation of CBS domains from CLC chloride channels.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Residues lining the inner pore vestibule of human muscle chloride channels

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775849

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

2 September 2018

1 reference

12 December 2020

Decrement of compound muscle action potential is related to mutation type in myotonia congenita

1 reference

12 December 2020

Myotonia congenita in pregnancy

1 reference

12 December 2020

Improved therapy of myotonia with the lidocaine derivative tocainide

1 reference

12 December 2020

Transient weakness and compound muscle action potential decrement in myotonia congenita

1 reference

12 December 2020

Electrical myotonia in heterozygous carriers of recessive myotonia congenita

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

1 reference

12 December 2020

10.3346/JKMS.2009.24.6.1038

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19949657%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference