A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
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Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaThe spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationGenetic and clinical features of progranulin-associated frontotemporal lobar degenerationALS and FTLD: two faces of TDP-43 proteinopathy.In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Sporadic corticobasal syndrome due to FTLD-TDP.FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases.Progress in the last decade in our understanding of primary progressive aphasia.Prominent phenotypic variability associated with mutations in ProgranulinStrikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.Novel GRN Mutations in Patients with Corticobasal SyndromeA distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK seriesRefining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersUpdate on recent molecular and genetic advances in frontotemporal lobar degeneration.FTD and ALS: a tale of two diseasesRates of cerebral atrophy differ in different degenerative pathologies.Role of progranulin as a biomarker for Alzheimer's disease.Frontotemporal dementia: from Mendelian genetics towards genome wide association studies."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Novel exon 1 progranulin gene variant in Alzheimer's disease.Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice.Progranulin Mutations Affects Brain Oscillatory Activity in Fronto-Temporal Dementia.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation.ER stress and impaired autophagy flux in neuronal degeneration and brain injury.Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?Circulating progranulin as a biomarker for neurodegenerative diseasesIntra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.DCUN1D1 is a risk factor for frontotemporal lobar degeneration.Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study.
P2860
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P2860
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
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2006年學術文章
@zh-hant
name
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@en
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@nl
type
label
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@en
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@nl
prefLabel
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@en
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
@nl
P2093
P50
P1476
A novel deletion in progranulin gene is associated with FTDP-17 and CBS
@en
P2093
Elena Sina
Lara Gigola
Thomas Bettecken
P304
P356
10.1016/J.NEUROBIOLAGING.2006.10.028
P577
2006-12-06T00:00:00Z