Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
-
Englisch
- Bibliographic citation
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Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review ; volume:83 ; number:3 ; year:2020 ; pages:317-322
European neurology ; 83, Heft 3 (2020), 317-322
- Creator
-
Samukawa, Makoto
Nakamura, Naoko
Hirano, Makito
Morikawa, Miyuki
Sakata, Hanami
Nishino, Ichizo
Izumi, Rumiko
Suzuki, Naoki
Kuroda, Hiroshi
Shiga, Kensuke
Saigoh, Kazumasa
Aoki, Masashi
Kusunoki, Susumu
- DOI
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10.1159/000508346
- URN
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urn:nbn:de:101:1-2020082000154379174300
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:43 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Samukawa, Makoto
- Nakamura, Naoko
- Hirano, Makito
- Morikawa, Miyuki
- Sakata, Hanami
- Nishino, Ichizo
- Izumi, Rumiko
- Suzuki, Naoki
- Kuroda, Hiroshi
- Shiga, Kensuke
- Saigoh, Kazumasa
- Aoki, Masashi
- Kusunoki, Susumu
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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report
Identification of novel genes involved in neutral lipid storage by quantitative trait loci analysis of Saccharomyces cerevisiae
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Crosstalk between neutral lipid and sphingolipid metabolism regulates cellular lipid homeostasis
Characterization of Acyltransferases in Neutral Lipid Synthesis
The size matters: regulation of lipid storage by lipid droplet dynamics
CLSTN3B promotes lipid droplet maturation and lipid storage in mouse adipocytes
LRRK2 mediated Rab8a phosphorylation promotes lipid storage
MRI in neutral lipid storage disease (NLSD)
Endothelial dysfunction in a mouse model of human neutral lipid storage disease
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report
Identification of novel genes involved in neutral lipid storage by quantitative trait loci analysis of Saccharomyces cerevisiae
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Crosstalk between neutral lipid and sphingolipid metabolism regulates cellular lipid homeostasis
Characterization of Acyltransferases in Neutral Lipid Synthesis
The size matters: regulation of lipid storage by lipid droplet dynamics
CLSTN3B promotes lipid droplet maturation and lipid storage in mouse adipocytes