Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
about
Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.Pvr expression regulators in equilibrium signal control and maintenance of Drosophila blood progenitorsDirect interaction between causative genes of DYT1 and DYT6 primary dystonia.Genetic and clinical features of primary torsion dystonia.The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.Inherited isolated dystonia: clinical genetics and gene function.THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.Identifying the genetic components underlying the pathophysiology of movement disorders.The focal dystonias: current views and challenges for future researchMolecular pathways in dystonia.Milestones in dystonia.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Review: genetics and neuropathology of primary pure dystonia.Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.Advances in the genetics of primary torsion dystonia.Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
P2860
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P2860
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Identification of a novel THAP ...... nts with early-onset dystonia.
@en
Identification of a novel THAP ...... nts with early-onset dystonia.
@nl
type
label
Identification of a novel THAP ...... nts with early-onset dystonia.
@en
Identification of a novel THAP ...... nts with early-onset dystonia.
@nl
prefLabel
Identification of a novel THAP ...... nts with early-onset dystonia.
@en
Identification of a novel THAP ...... nts with early-onset dystonia.
@nl
P2093
P356
P1433
P1476
Identification of a novel THAP ...... nts with early-onset dystonia.
@en
P2093
Ana Gorostidi
Begona Indakoetxea
Javier Ruiz-Martinez
José F Martí Massó
Marta Ruibal
P304
P356
10.1002/MDS.22849
P407
P577
2009-12-01T00:00:00Z