Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. (Q46023528)

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scientific article published on 25 September 2008

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English	Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.	scientific article published on 25 September 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

author name string

Cord Drögemüller

1

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Michaela Drögemüller

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Francesco Mascarello

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Stefania Testoni

5

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Marco Rossi

6

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Arcangelo Gentile

7

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Ernesto Damiani

8

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Roberta Sacchetto

9

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

publication date

25 September 2008

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

92

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

6

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

474-477

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

Muscle glycogenoses

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Congenital pseudomyotonia in Chianina cattle

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Highly effective SNP-based association mapping and management of recessive defects in livestock

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Sarcoplasmic reticulum: the dynamic calcium governor of muscle

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Coordinate expression of Ca2+-ATPase slow-twitch isoform and of beta calmodulin-dependent protein kinase in phospholamban-deficient sarcoplasmic reticulum of rabbit masseter muscle

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.07.014

7 January 2021

Identifiers

10.1016/J.YGENO.2008.07.014

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/18786632

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