(Q80863131)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337730%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia (English)

1 reference

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4 January 2020

2

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4 January 2020

Jan J Verschuuren

7

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4 January 2020

Nicolette C Notermans

6

object named as

Nicolette C Notermans

1 reference

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4 January 2020

author name string

Jeroen Trip

1

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4 January 2020

Dennis J Verbove

3

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4 January 2020

Anneke J van der Kooi

4

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4 January 2020

Jan B M Kuks

5

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4 January 2020

Marianne de Visser

8

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4 January 2020

Baziel G M van Engelen

9

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4 January 2020

Carin G Faber

10

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4 January 2020

Ieke B Ginjaar

11

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4 January 2020

publication date

12 March 2008

1 reference

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European Journal of Human Genetics

4 January 2020

published in

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4 January 2020

volume

16

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4 January 2020

issue

8

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4 January 2020

page(s)

921-929

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.39

4 January 2020

exact match

0 references

cites work

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

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7 January 2021

Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

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7 January 2021

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)

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7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

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7 January 2021

Phenotypic variability in myotonia congenita

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https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Myotonia fluctuans. A third type of muscle sodium channel disease

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https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

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https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Founder mutations and the high prevalence of myotonia congenita in northern Finland

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

A novel muscle sodium channel mutation causes painful congenital myotonia

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis

1 reference

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7 January 2021

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Phenotype variation and newcomers in ion channel disorders

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Muscle channelopathies and critical points in functional and genetic studies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.39

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337730%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference