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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




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Comorbidity C0029401|paget\'s disease of bone
Sentences 8
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- 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- 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- 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- 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- 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- 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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