Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. - Wikidata - awgldk - TriplyDB

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

http://www.wikidata.org/entity/Q36666933

about

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Engineering large animal models of human disease State of play in amyotrophic lateral sclerosis genetics G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 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 expansion Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration Anti-sense DNA d(GGCCCC)n expansions in C9ORF72 form i-motifs and protonated hairpins.C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Multiparametric MRI study of ALS stratified for the C9orf72 genotype.

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P2860

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

http://www.wikidata.org/entity/Q36666933

description

2013 nî lūn-bûn

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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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2013年论文

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2013年论文

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name

Large C9orf72 hexanucleotide r ...... expected in the UK population.

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Large C9orf72 hexanucleotide r ...... expected in the UK population.

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type

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Large C9orf72 hexanucleotide r ...... expected in the UK population.

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Large C9orf72 hexanucleotide r ...... expected in the UK population.

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prefLabel

Large C9orf72 hexanucleotide r ...... expected in the UK population.

@ast

Large C9orf72 hexanucleotide r ...... expected in the UK population.

@en

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P356

J.AJHG.2013.01.011

P1433

American Journal of Human Genetics

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Large C9orf72 hexanucleotide r ...... expected in the UK population

@en

P2093

Aaron Borg

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

Adrian M Isaacs

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Andrea Malaspina

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Gary Adamson

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

Henry Houlden

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

James M Polke

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

James Uphill

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

Jeremy Brown

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

John Collinge

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

John Hardy

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P2860

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

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

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

A high-resolution recombination map of the human genome

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses.

Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population-based study.

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

Chromosome 9 ALS and FTD locus is probably derived from a single founder

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345-353

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10.1016/J.AJHG.2013.01.011

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3

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92

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Sarah J. Tabrizi

Jason D. Warren

Jonathan D Rohrer

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Colin J Mahoney

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2013-02-21T00:00:00Z

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235715570

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23434116

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neurodegeneration

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