Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.010 | GeneticVariation | disease | BEFREE | We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. | 20452812 | 2010 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). | 17196872 | 2007 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. | 12056930 | 2002 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. | 20452812 | 2010 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. | 12492138 | 2002 | ||||
|
0.200 | Biomarker | disease | MGD | TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. | 29556029 | 2018 | ||||
|
0.200 | Biomarker | disease | MGD | The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism. | 28559417 | 2017 |