cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. (Q50547039): Difference between revisions

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scientific article published on 12 March 2008

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English	cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.	scientific article published on 12 March 2008

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

title

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

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

author name string

Morten Duno

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

Marie-Louise Sveen

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

Marianne Schwartz

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

John Vissing

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

publication date

12 March 2008

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

published in

European Journal of Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

volume

16

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

issue

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

page(s)

935-940

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

cites work

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Calpains and disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

The calpain system

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

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21 January 2018

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

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21 January 2018

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

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Crossref

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Clinical variability in calpainopathy: what makes the difference?

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Calpainopathy-a survey of mutations and polymorphisms

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Calpain-3 mutations in Turkey

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

retrieved

21 January 2018

Identifiers

DOI

10.1038/EJHG.2008.47

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

PubMed publication ID

18337726

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337726

retrieved

15 March 2018

reference URL

http://europepmc.org/abstract/MED/18337726

ResearchGate publication ID

5514053

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