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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0029401|paget disease of bone
Sentences 20
PubMedID- 21781992 P97 was identified as a causative factor for inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and more recently as a causative factor for amyotrophic lateral sclerosis (als).
PubMedID- 23827524 Mutations in the prion-like domain (prld) of hnrnpa1 and a2/b1 genes were recently identified in 2 families with inclusion body myopathy associated with paget disease of bone, frontotemporal dementia (ftd), and amyotrophic lateral sclerosis, and in als patients.
PubMedID- 20833645 We further identified strumpellin in pathological protein aggregates in inclusion body myopathy associated with paget disease of bone and frontotemporal dementia, various myofibrillar myopathies and in cortical neurons of a huntington's disease mouse model.
PubMedID- 25388089 Dominant mutations in the valosin-containing protein (vcp) gene cause inclusion body myopathy associated with paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, and frontotemporal dementia.
PubMedID- 22909335 Genotype-phenotype studies of vcp-associated inclusion body myopathy with paget disease of bone and/or frontotemporal dementia.
PubMedID- 24838343 Its dominant mutations cause hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) or amyotrophic lateral sclerosis.
PubMedID- 20301649 Inclusion body myopathy associated with paget disease of bone (pdb) and/or frontotemporal dementia (ibmpfd) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset pdb, and premature frontotemporal dementia (ftd).
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- 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- 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- 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- 20604808 Several mis-sense mutations in the human vcp gene have been identified in patients suffering inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd).
PubMedID- 22728077 To date, 19 different single amino acid-substitutions in vcp have been reported to cause ibmpfd (inclusion body myopathy associated with paget disease of bone and frontotemporal dementia), an autosomal dominant inherited human disease.
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- 25884947 Mutations in the valosin containing protein (vcp) gene cause hereditary inclusion body myopathy (hibm) associated with paget disease of bone (pdb), frontotemporal dementia (ftd), more recently termed multisystem proteinopathy (msp).
PubMedID- 23747512 Mutations in valosin-containing protein (vcp) cause a rare, autosomal dominant disease called inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd).
PubMedID- 25031631 Vcp mutations also cause the syndrome of inclusion body myopathy with paget disease of bone and ftd [108].
PubMedID- 23169451 Introduction: mutations in the valosin-containing protein (vcp) gene cause hereditary inclusion body myopathy (ibm) associated with paget disease of bone (pdb), and frontotemporal dementia (ftd).
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- 25698929 However, p97 dysfunction was recently linked to some forms of amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and a connection to failed mitochondrial quality control was suspected (yamanaka et al., 2012).

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