(Q44039213)

29 November 2017

title

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression (English)

1 reference

29 November 2017

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6

Lars Kober

1 reference

29 November 2017

Nanna Witting

1

1 reference

29 November 2017

Morten Duno

2

1 reference

29 November 2017

Helle Petri

3

1 reference

29 November 2017

Thomas Krag

4

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29 November 2017

Henning Bundgaard

5

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29 November 2017

John Vissing

7

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29 November 2017

publication date

14 May 2013

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29 November 2017

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29 November 2017

volume

260

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29 November 2017

issue

8

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29 November 2017

page(s)

2084-2093

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-013-6934-y

29 November 2017

exact match

0 references

cites work

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Abnormal localization of laminin subunits in muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Ventricular arrhythmias and risk of death and acute myocardial infarction in apparently healthy subjects of age >or=55 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Distal myopathies--new genetic entities expand diagnostic challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Muscle MRI findings in limb girdle muscular dystrophy type 2L

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-6934-Y

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23670307

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dilated cardiomyopathy in patients with mutations in anoctamin 5

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23670307

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-6934-Y

1 reference

29 November 2017

1 reference