The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
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Effect of diet on expression of genes involved in lipid metabolism, oxidative stress, and inflammation in mouse liver-insights into mechanisms of hepatic steatosisNeutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.Generation of induced Pluripotent Stem Cells as disease modelling of NLSDMContribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseImpact of Reduced ATGL-Mediated Adipocyte Lipolysis on Obesity-Associated Insulin Resistance and Inflammation in Male Mice.Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis.Endogenous and Synthetic ABHD5 Ligands Regulate ABHD5-Perilipin Interactions and Lipolysis in Fat and Muscle.Early structural and metabolic cardiac remodelling in response to inducible adipose triglyceride lipase ablation.Symptomatic lipid storage in carriers for the PNPLA2 gene.A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathyQuantitative proteomic analysis of cultured skin fibroblast cells derived from patients with triglyceride deposit cardiomyovasculopathy.Clinical neurogenetics: recent advances.Recent advances in clinical neurogenetics.An overview of inborn errors of complex lipid biosynthesis and remodelling.Inborn errors of cytoplasmic triglyceride metabolism.Muscle MRI in neutral lipid storage disease (NLSD).Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.[Unusual phenotype of myopathy associated with a new PNPLA2 mutation].[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one].Deciphering the Role of Lipid Droplets in Cardiovascular Disease: A Report From the 2017 National Heart, Lung, and Blood Institute WorkshopNovel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
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P2860
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@en
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@nl
type
label
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@en
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@nl
prefLabel
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@en
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@nl
P2093
P2860
P50
P1433
P1476
The phenotypic spectrum of neu ...... mutations in the PNPLA2 gene.
@en
P2093
Andrée MacMillan
Annette Schollen
Birgit Czermin
Doug M Turnbull
Elke Holinski-Feder
Jens Reimann
Kieren G Hollingsworth
Lesley Turner
Maggie C Walter
Nicolai Schramm
P2860
P2888
P304
P356
10.1007/S00415-011-6055-4
P577
2011-05-05T00:00:00Z