Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
about
Advancing epilepsy genetics in the genomic eraEctopic expression of ceramide synthase 2 in neurons suppresses neurodegeneration induced by ceramide synthase 1 deficiencyAn integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.Human genetic disorders of sphingolipid biosynthesis.Crosstalk between sphingolipids and vitamin D3: potential role in the nervous system.Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.Overexpression of ceramide synthase 1 increases C18-ceramide and leads to lethal autophagy in human glioma.De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's Disease.Sphingolipids and their metabolism in physiology and disease.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Lipophagy prevents activity-dependent neurodegeneration due to dihydroceramide accumulation in vivo.Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
P2860
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P2860
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@en
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@nl
type
label
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@en
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@nl
prefLabel
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@en
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
@nl
P2093
P2860
P50
P356
P1433
P1476
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
@en
P2093
Angela Robbiano
Antonio Falace
Carlo Minetti
Edoardo Ferlazzo
Elisabetta Gazzerro
Jacek Bielawski
Monica Traverso
Nicola Vanni
Pasquale Striano
Pierre Genton
P2860
P304
P356
10.1002/ANA.24170
P577
2014-05-20T00:00:00Z