|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
|
11071507 |
2000 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
|
12473774 |
2002 |
|
rs63750756
|
|
|
0.900 |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
|
11889249 |
2002 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
|
15883319 |
2005 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
|
9736786 |
1998 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We investigated the underlying disease mechanism associated with the N279K tau mutation using PPND/FTDP-17 patient-derived induced pluripotent stem cells (iPSCs) and autopsy brains.
|
26373282 |
2015 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |
|
rs63750756
|
|
|
0.900 |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Functional effects of tau gene mutations deltaN296 and N296H.
|
11906000 |
2002 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
|
rs63750756
|
|
|
0.900 |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
1999 |
|
rs63750756
|
|
|
0.900 |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity within a new family with the MAPT p301s mutation.
|
16240366 |
2005 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.
|
30050413 |
2018 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.
|
11585254 |
2001 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
|
12509859 |
2003 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.
|
11278002 |
2001 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
|
10553987 |
1999 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.
|
11117541 |
2000 |
|
rs63750756
|
|
|
0.900 |
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 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We utilized CRISPR/Cas9 genome editing in human induced pluripotent stem (iPS) cell-derived neural progenitor cells (NPCs) to repair the FTD-associated N279K MAPT mutation.
|
28256506 |
2017 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A distinct familial presenile dementia with a novel missense mutation in the tau gene.
|
10208578 |
1999 |