|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Functional effects of tau gene mutations deltaN296 and N296H.
|
11906000 |
2002 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
|
11921059 |
2002 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
|
11071507 |
2000 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.
|
11117541 |
2000 |
|
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
|
UNIPROT |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
|
10553987 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A distinct familial presenile dementia with a novel missense mutation in the tau gene.
|
10208578 |
1999 |
|
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 |
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
|
9736786 |
1998 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |