High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

Item
http://www.wikidata.org/entity/Q50889240
GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.GCH1 expression in human cerebellum from healthy individuals is not gender dependent.Milestones in dystonia.The genetics of the dystonias--a review based on the new classification of the dystonias.Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.Dopa-responsive dystonia: recent advances and remaining issues to be addressed.Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.Atypical presentation of dopa‐responsive dystonia in Taiwan.
P2860

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

Item
http://www.wikidata.org/entity/Q50889240
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
High penetrance and pronounced ...... with dopa-responsive dystonia.
@en
High penetrance and pronounced ...... with dopa-responsive dystonia.
@nl
type
label
High penetrance and pronounced ...... with dopa-responsive dystonia.
@en
High penetrance and pronounced ...... with dopa-responsive dystonia.
@nl
prefLabel
High penetrance and pronounced ...... with dopa-responsive dystonia.
@en
High penetrance and pronounced ...... with dopa-responsive dystonia.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
High penetrance and pronounced ...... with dopa-responsive dystonia.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698