C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseDementia and neuroimaging.Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43.Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuumAltered body schema processing in frontotemporal dementia with C9ORF72 mutations.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsProfiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.RNA-binding protein misregulation in microsatellite expansion disordersFrontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansionsC9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion.C9ORF72 mutations in neurodegenerative diseases.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Psychotic symptoms in frontotemporal dementia.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Intermediate C9orf72 alleles in neurological disorders: does size really matter?The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions.The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Neurodegenerative disorder masquerading as psychosis in a forensic psychiatry settingFrontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.C9ORF72 and the FTD-ALS spectrum: A systematic review of neuroimaging studies.Behavioural-variant frontotemporal dementia: an update.Reappraisal of TDP-43 pathology in FTLD-U subtypes.Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion.Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.Predicting Development of Amyotrophic Lateral Sclerosis in Frontotemporal Dementia.Heritability in frontotemporal dementia: more missing pieces?Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.The genetics of primary progressive aphasia
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P2860
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@ast
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@en
type
label
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@ast
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@en
prefLabel
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@ast
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
@en
P2093
P2860
P50
P1433
P1476
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
@en
P2093
Carol Dobson-Stone
John R Hodges
Lauren Bartley
Marianne Hallupp
P2860
P304
P356
10.1212/WNL.0B013E3182684634
P407
P577
2012-08-08T00:00:00Z