C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. - Wikidata - awgldk - TriplyDB

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

http://www.wikidata.org/entity/Q37251674

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Frontotemporal dementia: a bridge between dementia and neuromuscular disease C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Arizona Study of Aging and Neurodegenerative Disorders and Brain and Body Donation Program.ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.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.ADNP: in search for molecular mechanisms and innovative therapeutic strategies for frontotemporal degeneration.The role of de novo mutations in the development of amyotrophic lateral sclerosis.Genetics of FTLD: overview and what else we can expect from genetic studies.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance.Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.The patterns of inheritance in early-onset dementia: Alzheimer's disease and frontotemporal dementia.Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).The Genetics of Monogenic Frontotemporal Dementia.Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.Mendelian forms of disease and age at onset affect survival in frontotemporal dementia.OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?Heritability in frontotemporal dementia: more missing pieces?Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations inTARDBP

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

http://www.wikidata.org/entity/Q37251674

description

article científic

@ca

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 11 September 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

@cs

name

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

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type

label

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

@en

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

@nl

prefLabel

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

@en

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

@nl

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

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Andrew Kertesz

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Anna Karydas

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Bianca Mullen

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Bradley F Boeve

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Brendan J Kelley

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Carol Lippa

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Dan H Geschwind

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Edward D Huey

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Eileen H Bigio

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Elisabeth McCarty Wood

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P2860

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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

The genetics and neuropathology of frontotemporal lobar degeneration

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

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

A harmonized classification system for FTLD-TDP pathology

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

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1332-1341

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Rosa Rademakers

Dennis W. Dickson

Marka van Blitterswijk

Mariely DeJesus-Hernandez

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Melissa E. Murray

Roberta Ghidoni

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Michael J Strong

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2013-09-11T00:00:00Z

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