PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
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RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome.On an algorithmic definition for the components of the minimal cell.ZMYND10 functions in a chaperone relay during axonemal dynein assembly.[EXPRESS] A third HSAN5 mutation disrupts the Nerve Growth Factor furin cleavage site
P2860
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
PLAA Mutations Cause a Lethal ...... radation of Synaptic Proteins.
@en
type
label
PLAA Mutations Cause a Lethal ...... radation of Synaptic Proteins.
@en
prefLabel
PLAA Mutations Cause a Lethal ...... radation of Synaptic Proteins.
@en
P2093
P2860
P50
P1154
2-s2.0-85017446093
P1476
PLAA Mutations Cause a Lethal ...... radation of Synaptic Proteins.
@en
P2093
Alan J Quigley
Amaya Garcia-Munoz
C Geoffrey Woods
Diana Walsh
Eamonn R Maher
Eissa Faqeih
Emma Perkins
Girish R Mali
Irene A Aligianis
Julie Vogt
P2860
P304
P356
10.1016/J.AJHG.2017.03.008
P407
P50
P5530
P577
2017-04-10T00:00:00Z
P6179
1084813002