Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
about
The impact of phenocopy on the genetic analysis of complex traits.Clinical spectrum of dopa-responsive dystonia and related disordersGTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.The genetics of dystonias.GCH1 expression in human cerebellum from healthy individuals is not gender dependent.Primary dystonia: molecules and mechanisms.Molecular pathways in dystonia.Milestones in dystonia.The genetics of dystonia: new twists in an old tale.Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Parkinsonism in GTP cyclohydrolase 1 mutation carriers.Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.Comparing endophenotypes in adult-onset primary torsion dystonia.
P2860
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P2860
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@ast
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@en
type
label
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@ast
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@en
prefLabel
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@ast
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@en
P2093
P2860
P1433
P1476
Study of a Swiss dopa-responsi ...... CH1: redefining DYT14 as DYT5.
@en
P2093
D A Stephan
D F Schorderet
F J G Vingerhoets
J M Kachergus
P2860
P304
P356
10.1212/01.WNL.0000275527.35752.C5
P407
P433
P577
2007-09-05T00:00:00Z