|
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 |
CausalMutation
|
CLINVAR |
A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.
|
14568818 |
2003 |
|
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 |
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
|
11071507 |
2000 |
|
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 mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
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 |
GeneticVariation
|
UNIPROT |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
|
12509859 |
2003 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
|
15883319 |
2005 |
|
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
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |
|
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 |
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
|
12473774 |
2002 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients.
|
26373282 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.
|
19498037 |
2009 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.
|
26143746 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
|
11889249 |
2002 |
|
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 |
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 |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
|
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 |
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
|
10553987 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Functional effects of tau gene mutations deltaN296 and N296H.
|
11906000 |
2002 |