(Q77628350)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

Sun C

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Tranebjaerg L

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Torbergsen T

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Holmgren G

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Van Ghelue M

5

1 reference

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7 December 2019

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

7 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

9

1 reference

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7 December 2019

page(s)

903-909

1 reference

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7 December 2019

issue

12

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200736

7 December 2019

exact match

0 references

cites work

Membrane changes in cells from myotonia patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

Altered Na+ channel activity and reduced Cl? conductance cause hyperexcitability in recessive generalized myotonia (becker)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

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%2FSJ.EJHG.5200736

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%2FSJ.EJHG.5200736

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

Myotonia congenita in northern Finland: an epidemiological and genetic study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

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%2FSJ.EJHG.5200736

7 January 2021

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

7 January 2021

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200736

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%2FSJ.EJHG.5200736

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200736

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840191%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference