A novel AARS mutation in a family with dominant myeloneuropathy.

A novel AARS mutation in a family with dominant myeloneuropathy.

Item
http://www.wikidata.org/entity/Q35639969
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Approach to a case of myeloneuropathy.The role of tRNA synthetases in neurological and neuromuscular disorders.
P2860

A novel AARS mutation in a family with dominant myeloneuropathy.

Item
http://www.wikidata.org/entity/Q35639969
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A novel AARS mutation in a family with dominant myeloneuropathy.
@ast
A novel AARS mutation in a family with dominant myeloneuropathy.
@en
type
label
A novel AARS mutation in a family with dominant myeloneuropathy.
@ast
A novel AARS mutation in a family with dominant myeloneuropathy.
@en
prefLabel
A novel AARS mutation in a family with dominant myeloneuropathy.
@ast
A novel AARS mutation in a family with dominant myeloneuropathy.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A novel AARS mutation in a family with dominant myeloneuropathy.
@en
P2093
P2860
P304
P31
P356
10.1212/WNL.0000000000001583
P407
P433
P478
P50
P577
P5875
P698
P932