(Q54517569)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

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

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

Benedikt Schoser

3

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

author name string

Joachim Schessl

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

Wolfram Kress

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

publication date

1 May 2012

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

Muscle and Nerve

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

45

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

5

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

740-742

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

Diagnosis and management of the limb girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

A new distal myopathy with mutation in anoctamin 5.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

The TMEM16 protein family: a new class of chloride channels?

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Expression cloning of TMEM16A as a calcium-activated chloride channel subunit

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

TMEM16A confers receptor-activated calcium-dependent chloride conductance

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Limb–girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FMUS.23281

21 January 2018

Identifiers

10.1002/MUS.23281

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/22499103

ResearchGate publication ID

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