RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
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RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.
P2860
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
RARS2 mutations cause early on ...... t ponto-cerebellar hypoplasia.
@en
type
label
RARS2 mutations cause early on ...... t ponto-cerebellar hypoplasia.
@en
prefLabel
RARS2 mutations cause early on ...... t ponto-cerebellar hypoplasia.
@en
P2093
P50
P1476
RARS2 mutations cause early on ...... t ponto-cerebellar hypoplasia.
@en
P2093
Daniella Nishri
Hadassa Goldberg-Stern
Iris Noyman
Lubov Blumkin
Mitsuko Nakashima
Naomichi Matsumoto
Sara Kivity
P304
P356
10.1016/J.EJPN.2016.02.012
P577
2016-03-02T00:00:00Z