|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tauopathies are neurodegenerative diseases, including Alzheimer's disease (AD) and frontotemporal dementia (FTD), in which tau protein aggregates within neurons.
|
30479844 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Anatomical MRI, diffusion tensor imaging (DTI) and resting-state functional MRI data were collected in 55 presymptomatic FTD mutation carriers (8 microtubule-associated protein Tau, 35 progranulin, and 12 chromosome 9 open reading frame 72) and 48 familial controls.
|
30094168 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify the genes and pathways that are dysregulated in FTLD-tau, we performed transcriptomic analyses in induced pluripotent stem cell (iPSC)-derived neurons carrying MAPT p.R406W and CRISPR/Cas9-corrected isogenic controls.
|
30546007 |
2018 |
|
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
|
27082848 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the tau gene MAPT cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17).
|
28233851 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast, Aβ<sub>42</sub> did not reduce LTP in slices in two independently generated transgenic lines expressing tau protein with the mutation N296H associated with frontotemporal dementia (FTD).
|
28484365 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies.
|
27975259 |
2017 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings suggest: (1) novel genetic overlap between CBD and PSP beyond the MAPT locus; (2) strong ties between CBD and FTD through the MAPT clade, and (3) unique combinations of overlapping genes that may, in part, influence selective regional or neuronal vulnerability observed in specific tauopathies.
|
28271184 |
2017 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Combined analysis of TDP-43, τT, and τP-181 in CSF may be useful for the antemortem diagnosis of ALS and FTD.
|
28848086 |
2017 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Abnormally phosphorylated tau protein is the key common marker in several brain diseases such as Alzheimer's disease, Parkinson`s disease, Pick Disease, Down syndrome and frontotemporal dementia and is capable of affecting synaptic events that are critical for memory formation.
|
27539594 |
2017 |
|
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Expression and purification of tau protein and its frontotemporal dementia variants using a cleavable histidine tag.
|
27663563 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the following protocol, we describe a method to image fibrillar tau in the retina of a transgenic mouse model of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17).
|
27975264 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While astrocytic differentiation was not impaired in FTD NPCs derived from one patient carrying the N279K MAPT mutation, FTD astrocytes appeared larger, expressed increased levels of 4R-TAU isoforms, demonstrated increased vulnerability to oxidative stress and elevated protein ubiquitination and exhibited disease-associated changes in transcriptome profiles when compared to astrocytes derived from one control individual and to the isogenic control.
|
28256506 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools.
|
27082848 |
2017 |
|
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The ultra-sensitive IMR assay was applied to detect the plasma tau protein levels of subjects with prevalent neurodegenerative diseases, such as Alzheimer's disease (AD), mild cognitive impairment (MCI) due to AD, Parkinson's disease (PD), frontotemporal dementia (FTD) and vascular dementia (VD).
|
28839167 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To assess the efficacy of [<sup>18</sup>F]AV1451 PET in visualizing tau pathology in vivo in a patient with frontotemporal dementia (FTD) associated with the V337M microtubule-associated protein tau (<i>MAPT)</i> mutation.
|
28130473 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
|
26990251 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
|
27859539 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).
|
27905268 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Almost 80 diseases caused by missense mutations and intronic mutations in the tau gene have been found in familial cases of frontotemporal dementia (FTD).
|
29556602 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We observed SNPs within the HLA, MAPT and APOE regions jointly contributing to increased risk for FTD and AD or PD.
|
27899424 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD).
|
28594853 |
2017 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Neurodegenerative conditions, including progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia (FTD), are primarily characterized by accumulation of tau protein in the brain.
|
29206491 |
2017 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MAPT mutations cause neurodegenerative diseases such as frontotemporal dementia but, strikingly, patients with the same mutation may have different clinical phenotypes.
|
28978354 |
2017 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, 21 articles reporting 2,377 patients with FTD (including 215 <i>MAPT</i> mutation carriers) revealed no sex difference in <i>MAPT-</i>related FTD (RR 1.21, 95% CI 0.95-1.55).
|
28916533 |
2017 |