about
TREM2 Variants in Alzheimer's DiseaseC9orf72 repeat expansions are a rare genetic cause of parkinsonismGenotype-phenotype correlations of amyotrophic lateral sclerosisCognitive and behavioral features of c9FTD/ALSState of play in amyotrophic lateral sclerosis geneticsDiagnosis and management of behavioral variant frontotemporal dementiaGenomic variants, genes, and pathways of Alzheimer's disease: An overview.Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.Early-onset Alzheimer's disease versus frontotemporal dementia: resolution with genetic diagnoses?Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.C9orf72 nucleotide repeat structures initiate molecular cascades of disease.Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansionCell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Degradation of cognitive timing mechanisms in behavioural variant frontotemporal dementiaAnalysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.G4-associated human diseases.Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging featuresNew approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degenerationExpanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.Dystrophic neurites express C9orf72 in Alzheimer's disease brains.Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.Parkinson disease is not associated with C9ORF72 repeat expansions.Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeRepeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.Frontotemporal dementia: diagnosis, deficits and managementC9orf72 hexanucleotide repeat expansions in clinical Alzheimer diseaseThe Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Repeat expansion in C9ORF72 in Alzheimer's disease.
@ast
Repeat expansion in C9ORF72 in Alzheimer's disease.
@en
type
label
Repeat expansion in C9ORF72 in Alzheimer's disease.
@ast
Repeat expansion in C9ORF72 in Alzheimer's disease.
@en
prefLabel
Repeat expansion in C9ORF72 in Alzheimer's disease.
@ast
Repeat expansion in C9ORF72 in Alzheimer's disease.
@en
P2093
P2860
P356
P1476
Repeat expansion in C9ORF72 in Alzheimer's disease.
@en
P2093
Alan E Renton
Bryan J Traynor
Elisa Majounie
Juan C Troncoso
Olga Pletnikova
Rodney Perry
Susan S Bassett
Yevgeniya Abramzon
P2860
P304
P356
10.1056/NEJMC1113592
P407
P577
2012-01-04T00:00:00Z