A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
about
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.Dynein/dynactin is necessary for anterograde transport of Mbp mRNA in oligodendrocytes and for myelination in vivo.Combining Structure-Function and Single-Molecule Studies on Cytoplasmic Dynein.Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.
P2860
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
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 DYNC1H1 mutation causi ...... lower extremity predominance.
@ast
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@en
type
label
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@ast
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@en
prefLabel
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@ast
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@en
P2093
P2860
P1433
P1476
A novel DYNC1H1 mutation causi ...... lower extremity predominance.
@en
P2093
Mingchao Shi
Qingwen Jin
Xingxia Wang
P2860
P356
10.1212/NXG.0000000000000017
P577
2015-07-16T00:00:00Z