Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.080 | GeneticVariation | BEFREE | The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits. | 29051562 | 2017 |
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0.080 | GeneticVariation | BEFREE | Disinhibition-like behavior in a P301S mutant tau transgenic mouse model of frontotemporal dementia. | 27521751 | 2016 |
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0.080 | GeneticVariation | BEFREE | To investigate the occurrence of neuroinflammatory changes in the brain of a patient affected by FTDP-17T associated with the P301S mutation and showing a frontotemporal dementia phenotype as well as in the brain of a patient affected by another FTDP-17T phenotype: multiple system tauopathy with presenile dementia. | 21212632 | 2011 |
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0.080 | GeneticVariation | BEFREE | Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. | 18490011 | 2008 |
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0.080 | GeneticVariation | BEFREE | Here we show that (trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene (FSB), a fluorescent Congo red derivative, labels tau inclusions in tissue sections from a mouse line transgenic for human P301S tau and in cases of familial frontotemporal dementia and sporadic Pick's disease. | 18291106 | 2008 |
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0.080 | GeneticVariation | BEFREE | Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. | 17318302 | 2007 |
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0.080 | GeneticVariation | BEFREE | Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. | 12796837 | 2003 |
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0.080 | GeneticVariation | BEFREE | Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. | 10374757 | 1999 |