C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease - Wikidata - awgldk - TriplyDB

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

http://www.wikidata.org/entity/Q36926919

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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.Early-onset Alzheimer's disease versus frontotemporal dementia: resolution with genetic diagnoses?Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.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 Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.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.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Parkinson disease is not associated with C9ORF72 repeat expansions.Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.Clinical neurogenetics: amyotrophic lateral sclerosis.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.C9ORF72 mutations in neurodegenerative diseases.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.R Loops and Links to Human Disease.Interactions of pathological proteins in neurodegenerative diseases.In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease.Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.Genetics of dementia in a Finnish cohort.Intrafamilial Phenotypic Variability in the Gene Expansion: 2 Case Studies

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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

http://www.wikidata.org/entity/Q36926919

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2013 nî lūn-bûn

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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

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

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type

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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

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prefLabel

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

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Bradley F Boeve

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Breanna Cooper

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David Carrell

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Jennifer Williamson

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Kelley Faber

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Kevin Mayo

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Matthew Harms

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NIA-LOAD/NCRAD Family Study Consortium

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Neill R Graff-Radford

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

Nigel Cairns

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

P2860

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

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

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6

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70

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Ramon Diaz-Arrastia

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2013-06-01T00:00:00Z

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Alzheimer's disease

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