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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pick disease
Symptom C0026848|myopathy
Sentences 28
PubMedID- 22909335 Valosin containing protein (vcp) disease associated with inclusion body myopathy, paget disease of the bone and frontotemporal dementia is a progressive autosomal dominant disorder caused by mutations in valosin containing protein gene.
PubMedID- 25724235 Valosin containing protein (vcp)-associated multisystem proteinopathy is a new hereditary disorder associated with inclusion body myopathy, paget disease of bone (pdb), frontotemporal dementia (ftd) and als.
PubMedID- 20335036 Two australian families with inclusion-body myopathy, paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.
PubMedID- 20301649 Inclusion body myopathy with paget disease of bone and/or frontotemporal dementia
PubMedID- 25457024 Accumulating evidence has proven that mutations in the vcp gene encoding valosin-containing protein (vcp) cause inclusion body myopathy with paget disease of the bone and frontotemporal dementia.
PubMedID- 24119107 Valosin containing protein (vcp) disease (also known as inclusion body myopathy, paget disease of bone and frontotemporal dementia ibmpfd syndrome) is caused by mutations in the gene encoding vcp classically affecting the muscle, bone and brain.
PubMedID- 24348398 Only 12% of the patients with ibmpfd described in the literature had all the three major manifestations of the disease previously described; 50% had only two major manifestations in any combination (20% had inclusion body myopathy associated with frontotemporal dementia as did our proband).
PubMedID- 22105171 Inclusion body myopathy with paget disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder characterized by progressive myopathy that is often accompanied by bone weakening and/or frontotemporal dementia.
PubMedID- 21320982 Background: missense mutations in the valosin-containing protein (vcp) gene on chromosome 9p13.3-p12 cause inclusion body myopathy with paget disease of bone and frontotemporal dementia (hereafter referred to as ibmpfd; omim 167320).
PubMedID- 22106714 Optn mutations also cause hereditary glaucoma and vcp causes inclusion body myopathy with frontotemporal dementia and paget's disease.
PubMedID- 21607982 Axonal hyperpolarization in inclusion-body myopathy, paget disease of the bone, and frontotemporal dementia (ibmpfd).
PubMedID- 21304887 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in valosin-containing protein (vcp), a hexameric aaa atpase that participates in a variety of cellular processes such as protein degradation, organelle biogenesis, and cell-cycle regulation.
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- 23715207 Inclusion body myopathy with paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (vcp) with typical onset of symptoms in the 30s.
PubMedID- 25582679 Inclusion body myopathy, paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the valosin containing protein (vcp) gene.
PubMedID- 21920633 Mutations in the valosin-containing protein gene (vcp) have been identified in neurological disorders (inclusion body myopathy--early paget's disease of the bone--frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins.
PubMedID- 22040362 Background and purpose: mutations in the valosin-containing protein (vcp) gene are known to cause inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and familial amyotrophic lateral sclerosis (als).
PubMedID- 25775548 Dominant mutations in p97/vcp (valosin-containing protein) cause a rare multisystem degenerative disease with varied phenotypes that include inclusion body myopathy, paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.
PubMedID- 21249466 Mutations in the vcp gene including r93, r155, and r191 have been described that manifest clinically as hereditary inclusion body myopathy with paget's disease of bone and frontotemporal dementia.
PubMedID- 24291843 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia.
PubMedID- 23782825 Findings were compatible with inclusion body myopathy with paget's disease of bone and frontotemporal dementia.
PubMedID- 23868359 Inclusion body myopathy with paget disease of the bone and frontotemporal dementia associated with a novel g156s mutation in the vcp gene.
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 .
PubMedID- 22337587 Of clinical importance, p97 mutants found in familial neurodegenerative conditions inclusion body myopathy paget's disease of the bone and/or frontotemporal dementia and amyotrophic lateral sclerosis are defective at interacting with ubxd1, indicating that functions regulated by a p97-ubxd1 complex are altered in these diseases.
PubMedID- 23782824 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in the valosin-containing protein (vcp) gene.
PubMedID- 22557993 Finally, type d refers to the pathology associated to inclusion body myopathy with paget’s disease of bone and frontotemporal dementia caused by chmp2b vcp gene mutations, and is characterized by numerous short dn and frequent lentiform nii.
PubMedID- 22105166 Inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd) is a multisystem degenerative disorder caused by mutations in the valosin-containing protein (vcp) gene.
PubMedID- 24829604 Background: inclusion-body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein.

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