Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionPhenotypic 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 diseasesSearching for Grendel: origin and global spread of the C9ORF72 repeat expansionAbsence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Age-related penetrance of the C9orf72 repeat expansion.Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansionsMemory deficits in amyotrophic lateral sclerosis are not exclusively caused by executive dysfunction: a comparative neuropsychological study of amnestic mild cognitive impairmentC9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.Are there susceptibility factors for primary progressive aphasia?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.Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron diseaseEarly detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patientsDrosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesTDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cordThe Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis.Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.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.The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.Extensive genetics of ALS: a population-based study in Italy.Expanding 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.Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeNeuroimaging features of C9ORF72 expansion
P2860
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P2860
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
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
Clinico-pathological features ...... is with expansions in C9ORF72.
@ast
Clinico-pathological features ...... is with expansions in C9ORF72.
@en
type
label
Clinico-pathological features ...... is with expansions in C9ORF72.
@ast
Clinico-pathological features ...... is with expansions in C9ORF72.
@en
prefLabel
Clinico-pathological features ...... is with expansions in C9ORF72.
@ast
Clinico-pathological features ...... is with expansions in C9ORF72.
@en
P2093
P2860
P50
P356
P1433
P1476
Clinico-pathological features ...... is with expansions in C9ORF72.
@en
P2093
Alice Brockington
Antonio Milano
Bryan J Traynor
Catherine Gelsthorpe
Christopher Hewitt
Christopher J McDermott
Gillian Forster
J Robin Highley
Joanne Martindale
Judith Hartley
P2860
P304
P356
10.1093/BRAIN/AWR365
P407
P577
2012-03-01T00:00:00Z