Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.
about
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.Emerging roles for brain drug-metabolizing cytochrome P450 enzymes in neuropsychiatric conditions and responses to drugs.Cytochrome P450 2U1, a very peculiar member of the human P450s family.CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?
P2860
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@en
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@nl
type
label
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@en
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@nl
prefLabel
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@en
Hereditary spastic paraplegia: ...... henotype variability in SPG56.
@nl
P50
P1476
Hereditary spastic paraplegia: ...... phenotype variability in SPG56
@en
P304
P356
10.1016/J.EJPN.2016.02.001
P577
2016-02-18T00:00:00Z