|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We screened a cohort of 48 patients with familial frontotemporal dementia (FTD) negative for MAPT, GRN, and C9orf72 mutations for other known FTD genes by using whole exome sequencing.
|
30103325 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred and sixty-seven mutation carriers (75 GRN, 60 C9orf72, and 32 MAPT) were included from the Genetic FTD Initiative (GENFI) study, a large international cohort of genetic FTD.
|
30010122 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport.
|
29729423 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau.
|
29731706 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We in6/2/2018vestigated hippocampal subfield volumes in a cohort of 75 patients with genetic FTD (age: mean (standard deviation) 59.3 (7.7) years; disease duration: 5.1 (3.4) years; 29 with MAPT, 28 with C9orf72, and 18 with GRN mutations) compared with 97 age-matched controls (age: 62.1 (11.1) years).
|
29889066 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The MAPT gene, encoding the microtubule-associated protein tau, has been shown to play an important role in FTD pathogenesis.
|
30057263 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>MAPT</i> gene cause frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), characterized by neuronal pathological Tau inclusions in the form of neurofibrillary tangles and Pick bodies and in some cases glial Tau pathology.
|
29259137 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia.
|
30893702 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tauopathies are neurodegenerative diseases characterized by TAU protein-related pathology, including frontotemporal dementia and Alzheimer's disease among others.
|
30036493 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene.
|
30050413 |
2018 |
|
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The pre-mRNA of MAPT is well studied and its aberrant pre-mRNA splicing is associated with frontotemporal dementia.
|
29729314 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
P364S MAPT mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member.
|
29215752 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS.
|
29578490 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuronal overexpression of tau with various mutations found in FTD with parkinsonism-linked to chromosome 17 (FTDP-17) in mice produces epileptic activity.
|
29621183 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The discovery of mutations in the microtubule-associated protein tau (<i>MAPT</i>) gene in patients with FTDP-17 also contributes to a better understanding of the dysfunctional tau as a cause of diseases.
|
29951497 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients.
|
29568692 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to detect the features of sleep disorder via polysomnography (PSG) based on Chinese pedigree of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17).
|
30353822 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal dementia with parkinsonism-linked to chromosome 17 (FTDP-17) is a rare autosomal dominant neurodegenerative disorder.
|
29226866 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Truncated mis-disordered tau protein plays an important role in the pathogenesis of Alzheimer's disease (AD) and frontotemporal dementia (FTD).
|
29914543 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features.
|
29370822 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The P301 L mutation in tau, a microtubule-associated protein, causes frontotemporal dementia with Parkinsonism linked to chromosome-17 (FTDP-17) that is accompanied by formation of filamentous polymers of tau.
|
29852407 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hyperphosphorylated tau protein is a key pathology in Alzheimer's disease (AD), frontotemporal dementia, chronic traumatic encephalopathy, and Parkinson's disease.
|
29914030 |
2018 |
|
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau.
|
29138281 |
2018 |
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
As the upregulation and hyperphosphorylation of tau protein is a hallmark of AD and FTD, our study sought to investigate potential interactions between tau and SFPQ by co-transfection and co-immunoprecipitation assays in N2a cells.
|
29376859 |
2018 |