Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.
|
10214944 |
1999 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.
|
10802785 |
2000 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation.
|
17319286 |
2007 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
|
14517953 |
2003 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding.
|
15695522 |
2005 |
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
|
11921059 |
2002 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.
|
26373282 |
2015 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation.
|
17196872 |
2007 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment.
|
30050413 |
2018 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding.
|
15695522 |
2005 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation.
|
17319286 |
2007 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.
|
10802785 |
2000 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17.
|
12492138 |
2002 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND).
|
17639429 |
2007 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism.
|
22169201 |
2012 |
Parkinsonian Disorders
|
|
0.100 |
GeneticVariation
|
BEFREE |
Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17.
|
12492138 |
2002 |