Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.
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The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystoniasHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsX-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag).A novel X-linked four-repeat tauopathy with Parkinsonism and spasticityIdentification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystoniaReduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonismSplicing: is there an alternative contribution to Parkinson's disease?New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.The genetics of dystonias.Recent advances in the genetics of dystonia.Milestones in dystonia.Review: genetics and neuropathology of primary pure dystonia.Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.The genetics of the dystonias--a review based on the new classification of the dystonias.X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Update on the Genetics of Dystonia.X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism.Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.TAF1 as the Most Plausible Disease Gene for XDP/DYT3.Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.Genetics and genomic medicine in the Philippines.X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.Increased insula-putamen connectivity in X-linked dystonia-parkinsonism.Unbalanced whole arm translocation resulting in loss of 18p in dystonia.A novel family with an unusual early-onset generalized dystonia
P2860
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P2860
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@ast
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@en
type
label
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@ast
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@en
prefLabel
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@ast
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@en
P2093
P2860
P356
P1476
Specific sequence changes in m ...... -linked dystonia parkinsonism.
@en
P2093
Dagmar Nolte
Stephan Niemann
Ulrich Müller
P2860
P304
10347-10352
P356
10.1073/PNAS.1831949100
P407
P577
2003-08-19T00:00:00Z