|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We report here on the clinical, neuroimaging, cerebral spinal fluid biomarker, genetic, biochemical and postmortem neuropathological analyses of a case of familial FTD with a Leu266Val MAPT mutation which results in a very early age of onset and a rapid course of disease.
|
17072625 |
2007 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity within a new family with the MAPT p301s mutation.
|
16240366 |
2005 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
|
15883319 |
2005 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
|
12509859 |
2003 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
|
12883828 |
2003 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
|
12509859 |
2003 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
|
14517953 |
2003 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
|
11889249 |
2002 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Functional effects of tau gene mutations deltaN296 and N296H.
|
11906000 |
2002 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
|
12473774 |
2002 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
|
11921059 |
2002 |
|
rs63750349
|
|
|
0.830 |
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 |
|
rs63750349
|
|
|
0.830 |
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 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.
|
10802785 |
2000 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.
|
11117541 |
2000 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
|
11071507 |
2000 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A distinct familial presenile dementia with a novel missense mutation in the tau gene.
|
10208578 |
1999 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
1999 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
|
10553987 |
1999 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.
|
10214944 |
1999 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
|
9736786 |
1998 |
|
rs63750349
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
|
|
|