C9orf72 repeat expansions are a rare genetic cause of parkinsonism - Test2 - elhamkhani - TriplyDB

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

http://www.wikidata.org/entity/Q23936600

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies Genotype-phenotype correlations of amyotrophic lateral sclerosis State of play in amyotrophic lateral sclerosis genetics Characterization 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 disorders Absence 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 disease Hypermethylation 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 degeneration Novel GRN Mutations in Patients with Corticobasal Syndrome Amyotrophic 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 China C9orf72 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

http://www.wikidata.org/entity/Q23936600

description

2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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prefLabel

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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Audrey Gabelle

http://www.w3.org/2001/XMLSchema#string

Christel Condroyer

http://www.w3.org/2001/XMLSchema#string

Daniel Rochefort

http://www.w3.org/2001/XMLSchema#string

Emmanuel Broussolle

http://www.w3.org/2001/XMLSchema#string

Isabelle Le Ber

http://www.w3.org/2001/XMLSchema#string

Karl Mondon

http://www.w3.org/2001/XMLSchema#string

Stéphane Thobois

http://www.w3.org/2001/XMLSchema#string

P2860

Genomic sequencing

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Second consensus statement on the diagnosis of multiple system atrophy

“Mini-mental state”

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

Epidemiology of Parkinson's disease

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

The FAB: a Frontal Assessment Battery at bedside.

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385-91

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scholarly article

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2175931

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10.1093/BRAIN/AWS357

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P407

P433

Pt 2

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P478

136

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Florence Pasquier

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2013-02-01T00:00:00Z

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235630463

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23413259

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Parkinson's disease

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3984141

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