Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
about
Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
P2860
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
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
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@en
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@nl
type
label
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@en
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@nl
prefLabel
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@en
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@nl
P2093
P2860
P50
P356
P1433
P1476
Multisystemic SYNE1 ataxia: co ...... ional and phenotypic spectrum.
@en
P2093
Daniel Jokisch
Daniela Di Bella
Eoa Consortium
Florian Harmuth
Franco Taroni
Gencer Genc
Ilaria Giordano
Inès Mademan
Jens Claaßen
Jonathan Baets
P2860
P356
10.1093/BRAIN/AWW115
P407
P577
2016-05-19T00:00:00Z