|
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In the present study, we report for the first time a significant upregulation of A2AR in patients suffering from frontotemporal lobar degeneration with the MAPT P301L mutation.
|
31599329 |
2019 |
|
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review.
|
29105852 |
2018 |
|
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We found reduced mRNA and protein expression of FOXP2 in frontal cortex area 8 in Pick's disease, and frontotemporal lobar degeneration-tau linked to P301L mutation presenting with language impairment in comparison with age-matched controls and cases with parkinsonian variant progressive supranuclear palsy.
|
27497476 |
2016 |
|
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau).
|
26861289 |
2016 |
|
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We enrolled affected (n = 6) and unaffected at risk members (n = 73) of families carrying the FTLD associated progranulin Leu271LeufsX10 mutation; additionally, we included subjects affected by sporadic/familial FTLD (n = 65), controls (n = 75), and a family carrying the tau P301L mutation.
|
18768919 |
2008 |
|
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
|
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All seven participants with available brain autopsies (6 GRN+/A152T+, 1 GRN+/A152T-) showed frontotemporal lobar degeneration with TDP-43 inclusions (type A classification), which is characteristic of GRN carriers.
|
28594853 |
2017 |
|
rs63750129
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid.
|
29253099 |
2018 |
|
rs63750424
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid.
|
29253099 |
2018 |
|
rs63750092
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to astrocytes, coiled bodies in oligodendrocytes have similar characteristics whatever the tauopathy, except glial globular inclusions in GGT, and coiled bodies and globular oligodendroglial inclusions in FTLD-tau/K317M.
|
24335532 |
2014 |
|
rs63750096
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.
|
23053136 |
2013 |
|
rs63750349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only 3R-tau isoforms were present in Pick bodies in those patients with familial FTLD associated with L266V, Q336R, E342V, K369I or G389R MAPT mutations.
|
16552612 |
2006 |
|
rs63750756
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed tau pathology characterised by neuronal neurofibrillary tangles (NFT) and glial cell tangles that contained only 4R-tau isoforms, as did the NFT in P301L MAPT mutation.
|
16552612 |
2006 |