(Q51346060)

4 April 2018

title

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (English)

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4 April 2018

neutral lipid storage disease

main subject

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1 reference

7

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Karine Clément

5

object named as

Karine Clément

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4 April 2018

Karim Wahbi

6

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author name string

Pascal Laforêt

1

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4 April 2018

Tanya Stojkovic

2

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4 April 2018

Guillaume Bassez

3

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Pierre G Carlier

4

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Bruno Eymard

8

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Robert-Yves Carlier

9

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publication date

28 December 2012

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Molecular Genetics and Metabolism

published in

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volume

108

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issue

2

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page(s)

125-131

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Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Triglyceride deposit cardiomyovasculopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Distal lipid storage myopathy due to PNPLA2 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Adipose triacylglycerol lipase deletion alters whole body energy metabolism and impairs exercise performance in mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Blocked Muscle Fat Oxidation During Exercise in Neutral Lipid Storage Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

A short protocol for muscle MRI in children with muscular dystrophies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

Adipose triglyceride lipase-null mice are resistant to high-fat diet-induced insulin resistance despite reduced energy expenditure and ectopic lipid accumulation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.12.004

10.1016/J.YMGME.2012.12.004

7 January 2021

Identifiers

DOI

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4 April 2018

release_4hyivq37gjd2dnc5m75wslodoa

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4hyivq37gjd2dnc5m75wslodoa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

4 April 2018