Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
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An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesityThe THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystoniasRoles for retrotransposon insertions in human diseaseCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersMeige syndrome: What's in a name?X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsA mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth diseaseSeqHBase: a big data toolset for family based sequencing data analysisRole of Gα(olf) in familial and sporadic adult-onset primary dystoniaThe anatomical basis of dystonia: current view using neuroimaging.Brain expressed microRNAs implicated in schizophrenia etiology.X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.Understanding XDP through imaging, pathology, and genetics.SVA retrotransposons: Evolution and genetic instabilityDystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractionsDystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case reportA 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 dystoniaRetrotransposition of marked SVA elements by human L1s in cultured cells.Basal Ganglia disorders associated with imbalances in the striatal striosome and matrix compartments.Mutations in CIZ1 cause adult onset primary cervical dystonia.New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.Alu elements and human common diseases like obesity.Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteinsNon-Parkinson movement disorders: Five new thingsDecreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.The genetics of dystonias.Recent advances in the genetics of dystonia.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.Inverted low-copy repeats and genome instability--a genome-wide analysisExon-trapping mediated by the human retrotransposon SVA.5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genomeThe promise of deep brain stimulation in X-linked dystonia parkinsonism.Milestones in dystonia.Review: genetics and neuropathology of primary pure dystonia.The genetics of dystonia: new twists in an old tale.Emerging common molecular pathways for primary dystonia.Crafting the brain - role of histone acetyltransferases in neural development and disease.
P2860
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P2860
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
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
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@ast
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@en
type
label
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@ast
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@en
prefLabel
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@ast
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@en
P2093
P2860
P356
P1476
Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism
@en
P2093
Elma Maranon
Gen Tamiya
Hiroyasu Akatsu
Kazumasa Ogasawara
Lillian V Lee
Maiko Tomizawa
Maria Daisy Tabuena
Marita Dantes
Masataka Nishimura
Ryuji Kaji
P2860
P304
P356
10.1086/512129
P407
P577
2007-01-23T00:00:00Z