Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionC9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaCognitive and behavioral features of c9FTD/ALSConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesLanguage, executive function and social cognition in the diagnosis of frontotemporal dementia syndromes.Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohortProgressive supranuclear palsy in a family with TDP-43 pathologyC9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum.Molecular imaging of microglial activation in amyotrophic lateral sclerosis.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseC9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsA pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Cerebro-cerebellar connectivity is increased in primary lateral sclerosis.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.C9ORF72 expression and cellular localization over mouse development.Dystrophic neurites express C9orf72 in Alzheimer's disease brains.Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansionAsymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions.Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeClinical, imaging, and pathological heterogeneity of the Alzheimer's disease syndrome.Neuroimaging features of C9ORF72 expansionTDP-43 or FUS-induced misfolded human wild-type SOD1 can propagate intercellularly in a prion-like fashionLength of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotypeAdvances in understanding the molecular basis of frontotemporal dementia.A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar DegenerationNeural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansionsC9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in ChinaRNA-mediated toxicity in neurodegenerative disease
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P2860
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
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
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@ast
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@en
type
label
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@ast
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@en
prefLabel
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@ast
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@en
P2093
P2860
P356
P1433
P1476
Clinical and pathological feat ...... RF72 mutation on chromosome 9p
@en
P2093
Bonnie Leung
Emily Dwosh
Ging-Yuek R Hsiung
Howard H Feldman
Ian R A Mackenzie
Matt Baker
Nicola J Rutherford
Pheth Sengdy
Phoenix Bouchard-Kerr
P2860
P304
P356
10.1093/BRAIN/AWR354
P407
P577
2012-02-17T00:00:00Z