(Q27336172)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

A novel mutation in CLCN1 associated with feline myotonia congenita (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

9

1 reference

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22 February 2020

1

Barbara Gandolfi

1 reference

22 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

Rob J Daniel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Dennis P O'Brien

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ling T Guo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Melanie D Youngs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Stacey B Leach

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Boyd R Jones

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

G Diane Shelton

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

30 October 2014

1 reference

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22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

e109926

1 reference

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Creative Commons Attribution 4.0 International

22 February 2020

copyright license

start time

30 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Molecular basis for decreased muscle chloride conductance in the myotonic goat

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

The skeletal muscle chloride channel in dominant and recessive human myotonia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

21 March 2017

1 reference

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CBS domains: structure, function, and pathology in human proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Are snRNPs involved in splicing?

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

New insights into RNA secondary structure in the alternative splicing of pre-mRNAs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Phenotypic variability in myotonia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Congenital diseases of feline muscle and neuromuscular junction.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Involvement of helices at the dimer interface in ClC-1 common gating

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Histochemical and morphometric study of fiber types in ten skeletal muscles of healthy young adult cats.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

A mechanism for RNA splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Projection structure of a ClC-type chloride channel at 6.5 A resolution

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Alternative splicing caused by RNA secondary structure.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Myotonia and neuromuscular blocking agents

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0109926

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0109926

Congenital myotonia in related kittens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0109926

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0109926

Structural and functional defects in beta-thalassemia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214686

Feline congenital myotonia

27 November 2018

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

1 reference

12 December 2020

Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait

1 reference

12 December 2020

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

1 reference

12 December 2020

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

1 reference

12 December 2020

Histochemical studies of denervated or tenotomized cat muscle: illustrating difficulties in relating experimental animal conditions to human neuromuscular diseases

1 reference

12 December 2020

On the repetitive discharge in myotonic muscle fibres

1 reference

12 December 2020

The declining electrical response of muscle to repetitive nerve stimulation in myotonia

1 reference

12 December 2020

Hereditary myotonia in the Chow Chow

1 reference

12 December 2020

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

1 reference

12 December 2020

Open-state substructure of single chloride channels from Torpedo electroplax

1 reference

12 December 2020

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

12 December 2020

Three cases of myotonia in a family of chows

1 reference

12 December 2020

Congenital myotonia in 2 domestic cats

1 reference

12 December 2020

Transient weakness and compound muscle action potential decrement in myotonia congenita

1 reference

12 December 2020

Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation

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

Dosage effect of a dominant CLCN1 mutation: a novel syndrome

1 reference

12 December 2020

Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0109926

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

ADS bibcode

2014PLoSO...9j9926G

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

25356766

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356766%20AND%20SRC:MED&resulttype=core&format=json