HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
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Progranulin in frontotemporal lobar degeneration and neuroinflammationThe genetics and neuropathology of frontotemporal lobar degenerationMechanisms of granulin deficiency: lessons from cellular and animal modelsTherapeutic and diagnostic challenges for frontotemporal dementiaProgranulin: normal function and role in neurodegenerationTARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathyA signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function.VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationClinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosisIdentification and correction of abnormal, incomplete and mispredicted proteins in public databasesALS and FTLD: two faces of TDP-43 proteinopathy.A common biological mechanism in cancer and Alzheimer's disease?A thorough assessment of benign genetic variability in GRN and MAPT.Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar DegenerationAccumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysisRs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.Recent insights into the molecular genetics of dementiaBiomarkers in frontotemporal lobar degenerations--progress and challenges.Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging.Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.Characteristics of frontotemporal dementia patients with a Progranulin mutation.A morphometric study of the spatial patterns of TDP-43 immunoreactive neuronal inclusions in frontotemporal lobar degeneration (FTLD) with progranulin (GRN) mutation.Progress in the last decade in our understanding of primary progressive aphasia.Reference cluster normalization improves detection of frontotemporal lobar degeneration by means of FDG-PET.Progranulin expression is upregulated after spinal contusion in mice.Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.Prominent phenotypic variability associated with mutations in ProgranulinA network of RNA and protein interactions in Fronto Temporal Dementia.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.Prion disease induced alterations in gene expression in spleen and brain prior to clinical symptoms.A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).Core features of frontotemporal dementia recapitulated in progranulin knockout mice.Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions.The non-fluent/agrammatic variant of primary progressive aphasia.Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypesMechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effectsLaminar distribution of the pathological changes in sporadic frontotemporal lobar degeneration with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy: a quantitative study using polynomial curve fitting.
P2860
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P2860
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@ast
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@en
HDDD2 is a familial frontotemp ...... signal peptide of progranulin.
@nl
type
label
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@ast
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@en
HDDD2 is a familial frontotemp ...... signal peptide of progranulin.
@nl
prefLabel
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@ast
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@en
HDDD2 is a familial frontotemp ...... signal peptide of progranulin.
@nl
P2093
P2860
P50
P356
P1433
P1476
HDDD2 is a familial frontotemp ...... signal peptide of progranulin
@en
P2093
Anthony L Hinrichs
Denise Levitch
Javier Armendariz
Joanne Norton
John Budde
John S K Kauwe
Lisa Taylor-Reinwald
Maria I Behrens
Michael Gitcho
Nigel J Cairns
P2860
P304
P356
10.1002/ANA.20963
P577
2006-09-01T00:00:00Z