(Q24514994)

1 July 2017

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). (English)

1 reference

1 July 2017

Koch MC

1

1 reference

1 July 2017

Ricker K

2

1 reference

1 July 2017

Otto M

3

1 reference

1 July 2017

Wolf F

4

1 reference

1 July 2017

Zoll B

5

1 reference

1 July 2017

Lorenz C

6

1 reference

1 July 2017

Steinmeyer K

7

1 reference

1 July 2017

Jentsch TJ

8

1 reference

1 July 2017

language of work or name

English

0 references

publication date

1 November 1993

1 reference

Journal of Medical Genetics

1 July 2017

1 reference

1 July 2017

30

1 reference

1 July 2017

914-917

1 reference

1 July 2017

11

1 reference

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

The skeletal muscle chloride channel in dominant and recessive human myotonia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

The myotonic mouse mutant ADR: electrophysiology of the muscle fiber

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Genetics and physiology of the myotonic muscle disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Recessively inherited myotonia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

The myotonic mouse--a realistic model for the study of human recessive generalized myotonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Transient muscular weakness in severe recessive myotonia congenita. Improvement of isometric muscle force by drugs relieving myotomic stiffness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

The myotonic mouse mutant ADR: physiological and histochemical properties of muscle.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

A case of Becker type congenital myotonia with myalgia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Heterozygote manifestation in recessive generalized myotonia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016598

Autosomal recessive generalized myotonia

30 May 2018

1 reference

12 December 2020

Autosomal recessive generalised myotonia. (A case report)

1 reference

12 December 2020

Autosomal recessive generalized myotonia

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.30.11.914

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.30.11.914

1 reference

release_6f3vmtskdjcu7op2hdnwtk57wi

1 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6f3vmtskdjcu7op2hdnwtk57wi

24 November 2022

mapped directly with Wikidata item

0 references

1 reference