Clinical Spectrum of PRKAG2 Syndrome.

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A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation Adenosine Monophosphate (AMP)-Activated Protein Kinase: A New Target for Nutraceutical Compounds Genetic Infiltrative Cardiomyopathies.Storage diseases with hypertrophic cardiomyopathy phenotype

P2860

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P2860

Clinical Spectrum of PRKAG2 Syndrome.

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http://www.wikidata.org/entity/Q38686608

description

2016 nî lūn-bûn

@nan

2016 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

name

Clinical Spectrum of PRKAG2 Syndrome.

@en

type

Item

label

Clinical Spectrum of PRKAG2 Syndrome.

@en

prefLabel

Clinical Spectrum of PRKAG2 Syndrome.

@en

P1476

Clinical Spectrum of PRKAG2 Syndrome.

@en

P2093

Andrea Giuseppe Porto

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Enrico Fabris

http://www.w3.org/2001/XMLSchema#string

Francesca Brun

http://www.w3.org/2001/XMLSchema#string

Giovanni Maria Severini

http://www.w3.org/2001/XMLSchema#string

Luisa Mestroni

http://www.w3.org/2001/XMLSchema#string

Matthew R G Taylor

http://www.w3.org/2001/XMLSchema#string

P2860

Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

The AMP-activated protein kinase--fuel gauge of the mammalian cell?

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome

PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy

Shared genetic causes of cardiac hypertrophy in children and adults

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e003121

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scholarly article

P356

10.1161/CIRCEP.115.003121 E003121

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10.1161/CIRCEP.115.003121

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P433

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Pasquale Losurdo

Gianfranco Sinagra

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2016-01-01T00:00:00Z

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26729852

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P932

4704128

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Clinical Spectrum of PRKAG2 Syndrome.

about

P2860

P2860

Clinical Spectrum of PRKAG2 Syndrome.

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P1476

P2093

P2860

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P1476

P2093

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P577

P698

P932