C9orf72 repeat expansions are a rare genetic cause of parkinsonism
about
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopiesGenotype-phenotype correlations of amyotrophic lateral sclerosisState of play in amyotrophic lateral sclerosis geneticsCharacterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disordersAbsence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Atypical parkinsonism: an update.Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.The genetic background of Parkinson's disease: current progress and future prospects.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.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.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degenerationNovel GRN Mutations in Patients with Corticobasal SyndromeAmyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in ChinaC9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.New therapy options for amyotrophic lateral sclerosis.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Motor neuron disease-frontotemporal dementia: a clinical continuum.Intermediate C9orf72 alleles in neurological disorders: does size really matter?Parkinsonism, movement disorders and genetics in frontotemporal dementia.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.Multiple system atrophy and repeat expansions in C9orf72--reply.Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.The Genetics of Monogenic Frontotemporal Dementia.Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
P2860
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P2860
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@ast
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en-gb
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@nl
type
label
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@ast
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en-gb
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@nl
prefLabel
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@ast
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en-gb
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
@en
P2093
Audrey Gabelle
Christel Condroyer
Daniel Rochefort
Emmanuel Broussolle
Isabelle Le Ber
Karl Mondon
Stéphane Thobois
P2860
P304
P3181
P356
10.1093/BRAIN/AWS357
P407
P577
2013-02-01T00:00:00Z