A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. - Wikidata - awgldk - TriplyDB

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

http://www.wikidata.org/entity/Q36801066

about

Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision Medicine Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia The epidemiology of frontotemporal dementia Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion Genetic testing in ALS: A survey of current practices.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.Frontotemporal dementia and its subtypes: a genome-wide association study.Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 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 A network of RNA and protein interactions in Fronto Temporal Dementia.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.Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity.Anti-sense DNA d(GGCCCC)n expansions in C9ORF72 form i-motifs and protonated hairpins.GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease 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 C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.Clinical neurogenetics: amyotrophic lateral sclerosis.Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.Promoter DNA methylation regulates progranulin expression and is altered in FTLD.Frontotemporal lobar degeneration: current perspectives.TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Protein aggregation in amyotrophic lateral sclerosis.C9ORF72 mutations in neurodegenerative diseases.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort.Genetics and underlying pathology of dementia.Neuropsychological Profile in the C9ORF72 Associated Behavioral Variant Frontotemporal Dementia.Motor neuron disease-frontotemporal dementia: a clinical continuum.Key emerging issues in frontotemporal dementia.

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P2860

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

http://www.wikidata.org/entity/Q36801066

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

@zh-cn

name

A pan-European study of the C9 ...... ity, and intermediate repeats.

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A pan-European study of the C9 ...... ity, and intermediate repeats.

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type

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A pan-European study of the C9 ...... ity, and intermediate repeats.

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A pan-European study of the C9 ...... ity, and intermediate repeats.

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A pan-European study of the C9 ...... ity, and intermediate repeats.

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A pan-European study of the C9 ...... ity, and intermediate repeats.

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Adrian Danel

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Albert Llado

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Anna Antonell

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Anne Börjesson-Hanson

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Anne Kinhult Ståhlbom

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Anne Sieben

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Beatriz Santiago

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Carmen Sachtleben

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Carolina Garret

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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

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

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

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

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

Primer3 on the WWW for general users and for biologist programmers

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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Christine Van Broeckhoven

Kristel Sleegers

Albena Jordanova

Benedetta Nacmias

Giovanni B. Frisoni

José Luis Molinuevo

Alfredo Ramirez

Julie van der Zee

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2013-01-04T00:00:00Z

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