A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
about
Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaThe unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristicsThe 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 C9ORF72The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Motor neuron disease-frontotemporal dementia: a clinical continuum.Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.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.Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.Frontotemporal dementia: latest evidence and clinical implications.A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
P2860
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P2860
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@ast
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@en
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@nl
type
label
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@ast
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@en
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@nl
prefLabel
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@ast
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@en
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@nl
P2093
P2860
P50
P356
P1476
A pathogenic progranulin mutat ...... with frontotemporal dementia.
@en
P2093
Elizabeth Gordon
Simon Mead
Tamas Revesz
Tammaryn Lashley
P2860
P304
P356
10.1111/NAN.12100
P577
2014-06-01T00:00:00Z