PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Phenotype | C0029401|paget disease of bone |
| Sentences | 6 |
| 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- 22270372 | In the p97-associated human disease inclusion body myopathy associated with paget disease of bone and frontotemporal dementia, the majority of missense mutations are located at the n-domain d1 interface. |
| 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- 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]. |
| 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- 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]. |
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