AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
about
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseClinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
P2860
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@ast
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@en
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@nl
type
label
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@ast
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@en
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@nl
prefLabel
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@ast
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@en
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@nl
P2093
P2860
P50
P356
P1476
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
@en
P2093
Julia Wolf
Kathrin N Karle
Nina A Schlipf
Peter Bauer
Sven Klimpe
P2860
P304
P356
10.1002/MGG3.87
P577
2014-05-25T00:00:00Z