PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Phenotype | C0029401|paget disease |
| Sentences | 6 |
| PubMedID- 22270372 | P97 is directly associated with human disease, as inherited missense mutations within the p97 gene give rise to the complex disease syndrome termed inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) (27). |
| PubMedID- 20865169 | However, mutations that impair vcp function are associated with inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [71], [72]. |
| PubMedID- 24598262 | Mutations in human p97 (known as vcp) are linked to neurodegenerative disorders, such as amyotrophic lateral sclerosis [4] and inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [5]. |
| PubMedID- 25698929 | Support for this notion comes from mitochondrial dysfunction associated with amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) caused by p97 mutation. |
| PubMedID- 20490813 | Mutations in valosin-containing protein (vcp) cause inclusion body myopathy and paget disease of bone with frontotemporal dementia, in which 20–100% of patients can develop ftd [10, 53, 56]. |
| PubMedID- 22852081 | Mutations in vcp have previously been identified in patients with inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [91]. |
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