C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. - Wikidata - awgldk - TriplyDB

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

http://www.wikidata.org/entity/Q37273743

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Recent advances in amyotrophic lateral sclerosis 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.Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease Antisense therapy in neurology Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?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.Bromodomain inhibitors regulate the C9ORF72 locus in ALS The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Intermediate C9orf72 alleles in neurological disorders: does size really matter?Parkinsonism, movement disorders and genetics in frontotemporal dementia.Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese.Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

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C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

http://www.wikidata.org/entity/Q37273743

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 12 July 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

@en

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

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type

label

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

@en

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

@nl

prefLabel

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

@en

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

@nl

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Annals of Human Genetics

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C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

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Eden R Martin

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Fatta Nahab

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Gary W Beecham

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Güney Bademci

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John R Gilbert

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Juan I Young

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Karen Nuytemans

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Liyong Wang

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Martin M Kohli

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William K Scott

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

P2860

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

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

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Exome sequencing reveals VCP mutations as a cause of familial ALS

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

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351-363

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scholarly article

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10.1111/AHG.12033

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5

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77

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Michael Benatar

Margaret A. Pericak-Vance

Jeffery M. Vance

Stephan Züchner

Jonathan L Haines

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2013-07-12T00:00:00Z

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23845100

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Parkinson's disease

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3815478

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