Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
about
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.A novel mutation in the OAR domain of the ARX gene.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.A new mouse model of ARX dup24 recapitulates the patients' behavioural and fine motor alterations.Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation.
P2860
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
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
Unraveling the pathogenesis of ...... olecular interfacing approach.
@ast
Unraveling the pathogenesis of ...... olecular interfacing approach.
@en
type
label
Unraveling the pathogenesis of ...... olecular interfacing approach.
@ast
Unraveling the pathogenesis of ...... olecular interfacing approach.
@en
prefLabel
Unraveling the pathogenesis of ...... olecular interfacing approach.
@ast
Unraveling the pathogenesis of ...... olecular interfacing approach.
@en
P2093
P2860
P50
P356
P1476
Unraveling the pathogenesis of ...... olecular interfacing approach.
@en
P2093
Ana Maria Fortuna
Angelina Calado
Carla Pinheiro
Christina Soares
Gabriela Soares
Katherine B Howell
Kathryn Friend
Lisa Aguiar
Maria do Céu Mota
Marta Amado
P2860
P304
P356
10.1002/MGG3.133
P577
2015-02-25T00:00:00Z