DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
about
Vocal Tremor: Novel Therapeutic Target for Deep Brain Stimulation.Deep Brain Stimulation for Essential Vocal Tremor: A Technical Report.Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.The phenotypic spectrum of DYT24 due to ANO3 mutations.Treatment of generalized dystonia.Genetic and clinical features of primary torsion dystonia.Identification and functional analysis of novel THAP1 mutations.Identifying the genetic components underlying the pathophysiology of movement disorders.The genetics of dystonias.The focal dystonias: current views and challenges for future researchMixed results for GPi-DBS in the treatment of cranio-facial and cranio-cervical dystonia symptoms.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.Pallidal deep brain stimulation for the treatment of DYT6 dystonia: a case report and review of literatureDimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.Advances in surgery for movement disorders.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.Long-term outcome of deep brain stimulation in generalised dystonia: a series of 60 cases.Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.
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DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-my
2010年学术文章
@zh-sg
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name
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@en
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@nl
type
label
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@en
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@nl
prefLabel
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@en
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@nl
P2093
P50
P356
P1433
P1476
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
@en
P2093
Bart P van de Warrenburg
Elisabeth M Foncke
Jacobus J van Hilten
Johannes D Speelman
Johannes H Koelman
Katja Ritz
Majid Aramideh
Marina A Tijssen
P Richard Schuurman
Rob M A de Bie
P304
P356
10.1002/MDS.23285
P407
P577
2010-10-01T00:00:00Z