eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pick disease |
| Comorbidity | C0029401|paget\'s disease |
| Sentences | 9 |
| PubMedID- 20957154 | Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd, omim 167320) is characterized by progressive muscle weakness, bone deformities and extensive neuro-degeneration [1]. |
| PubMedID- 20130684 | Cdc48p/p97 is a highly conserved essential aaa protein that is required for many cellular processes, and is identified as a causative gene for an autosomal dominant human disorder, inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd). |
| PubMedID- 22449146 | Mutations in the vcp gene result in inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als). |
| PubMedID- 24130765 | Mutations in the valosin containing protein (vcp) gene lead to inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) and more recently affect 2% of amyotrophic lateral sclerosis (als)-diagnosed cases. |
| PubMedID- 21798100 | Similar findings may be observed in biopsies from patients with valosin-containing protein (vcp)-related inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia which, therefore, should not be excluded as a differential diagnosis [78]. |
| PubMedID- 21304887 | Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is a progressive autosomal dominant disease, characterized by the adult onset of muscle degeneration, abnormal bone metabolism, and drastic behavior changes. |
| PubMedID- 22898872 | More recently, mutations in the valosin-containing protein (vcp) gene linked to the human genetic disease, inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd), were found also to be associated with als in some patients. |
| PubMedID- 25690002 | Atmospheric pollution-induced cellular oxidative stress is probably one of the pathogenic mechanisms involved in most of the common autophagy-mediated aging diseases, including neurodegenerative diseases such as amyotrophic lateral sclerosis (als), alzheimer's, disease, as well as paget's disease of bone with or without frontotemporal dementia and inclusion body myopathy. |
| PubMedID- 22577517 | Autosomal dominant mutations in the vcp gene have been identified in the inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd; mim167320). |
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