PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia, frontotemporal |
| Phenotype | C0338451|frontotemporal dementia |
| Sentences | 5 |
| PubMedID- 24551850 | More than 40 mutations in the mapt gene have been also found to cause frontotemporal dementia with parkinsonism-17 (ftdp-17) [41]. |
| PubMedID- 24628994 | More specifically, the majority of transgenic models are constructed based on tau pathogenic mutations from frontotemporal dementia with parkinsonism-17 (ftdp-17), producing 4r pathology [16-18]. |
| PubMedID- 26419537 | Similarly, dopamine d2 receptor antagonists have been shown to ameliorate mutant tau-induced functional defects and reduce aggregation in a frontotemporal dementia with parkinsonism-17 (ftdp-17) tauopathy model [10]. |
| PubMedID- 26306801 | She was diagnosed clinically as having possible frontotemporal dementia with parkinsonism-17 (ftdp-17) but subsequent genetic analysis did not reveal any mapt mutation. |
| PubMedID- 24064058 | Abnormal alternative splicing has been implicated in a number of human diseases, such as cancers (breast and lung cancers via the bcl-x gene) (26), neurodegenerative diseases (spinal muscular atrophy via smn splicing) (27), frontotemporal dementia with parkinsonism-17 (ftfp-17) via tau splicing(28), and other diseases (14). |
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