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The genetics and neuropathology of frontotemporal lobar degenerationCognitive and behavioral features of c9FTD/ALSFrontotemporal dementia: a bridge between dementia and neuromuscular diseaseLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathAbsence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.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 C9ORF72A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Schizophrenia and frontotemporal dementia: shared causation?Intermediate C9orf72 alleles in neurological disorders: does size really matter?C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy.OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 27 March 2012
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Screening for C9ORF72 repeat expansion in FTLD.
@en
Screening for C9ORF72 repeat expansion in FTLD.
@nl
type
label
Screening for C9ORF72 repeat expansion in FTLD.
@en
Screening for C9ORF72 repeat expansion in FTLD.
@nl
prefLabel
Screening for C9ORF72 repeat expansion in FTLD.
@en
Screening for C9ORF72 repeat expansion in FTLD.
@nl
P2093
P2860
P50
P1476
Screening for C9ORF72 repeat expansion in FTLD.
@en
P2093
Bernardino Ghetti
Dimitrios Kapogiannis
Edward D Huey
Eric M Wassermann
Gregory A Jicha
Jill R Murrell
Jorge H Moreno
Michael C Tierney
Richard Mayeux
Stephanie Cosentino
P2860
P304
1850.e1-11
P356
10.1016/J.NEUROBIOLAGING.2012.02.017
P50
P577
2012-03-27T00:00:00Z