(Q43863876)

27 November 2017

title

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

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neutral lipid storage disease

27 November 2017

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Guido Davidzon

2

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Salvatore DiMauro

11

object named as

Salvatore DiMauro

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27 November 2017

Hasan O Akman

1

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27 November 2017

Kurenai Tanji

3

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27 November 2017

Emma J Macdermott

4

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27 November 2017

Louann Larsen

5

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27 November 2017

Mercy M Davidson

6

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27 November 2017

Ronald G Haller

7

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27 November 2017

Lidia S Szczepaniak

8

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27 November 2017

Thomas J A Lehman

9

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27 November 2017

Michio Hirano

10

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27 November 2017

publication date

14 May 2010

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27 November 2017

published in

Neuromuscular Disorders

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27 November 2017

volume

20

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27 November 2017

issue

6

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27 November 2017

page(s)

397-402

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

27 November 2017

cites work

1 reference

12 December 2020

Distal lipid storage myopathy due to PNPLA2 mutation

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12 December 2020

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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12 December 2020

Carnitine transport: pathophysiology and metabolism of known molecular defects

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12 December 2020

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

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12 December 2020

Lipid storage myopathy, ichthyosis, and steatorrhea

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12 December 2020

Muscle coenzyme Q10 level in statin-related myopathy

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12 December 2020

Perilipin A mediates the reversible binding of CGI-58 to lipid droplets in 3T3-L1 adipocytes

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12 December 2020

Coenzyme Q10 deficiency and isolated myopathy.

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12 December 2020

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

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12 December 2020

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

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12 December 2020

Clinical and genetic characterization of Chanarin–Dorfman syndrome

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12 December 2020

Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.

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12 December 2020

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

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12 December 2020

Jordans' anomaly in white blood cells. Report of case

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12 December 2020

Which transposable elements are active in the human genome?

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12 December 2020

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

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12 December 2020

Clinical and genetic analysis of lipid storage myopathies

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12 December 2020

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

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12 December 2020

Measurement of intracellular triglyceride stores by H spectroscopy: validation in vivo

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12 December 2020

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

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12 December 2020

Role of PAT proteins in lipid metabolism

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12 December 2020

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

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12 December 2020

Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

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12 December 2020

S3-12, Adipophilin, and TIP47 package lipid in adipocytes

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12 December 2020

10.1016/J.NMD.2010.04.004

Identifiers

DOI

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27 November 2017

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