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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0029401|paget\'s disease of bone
Sentences 23
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- 22174917 The differential binding of ufd2a and ufd2a-7/7a to vcp/p97 is also of interest given that mutations in this aaa-type atpase are present in patients with inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia and cause complete disease pathology in transgenic mice [60], [61].
PubMedID- 23000505 Introduction: inclusion-body myopathy (ibm) with paget's disease of bone (pdb) and frontotemporal dementia (ftd), designated as ibmpfd, is a rare, autosomal dominant disorder (mim 605382).
PubMedID- 25447673 A genetic deficiency of vcp can cause inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd).
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- 23349634 This stimulatory effect was lost when we used vcp mutants (r155h, r159g, and r191q) known to cause inclusion body myopathy with paget's disease of bone and fronto-temporal dementia (ibmpfd) and/or familial amyotrophic lateral sclerosis (als).
PubMedID- 20519548 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (vcp7) gene.
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- 22481368 Ibmpfd, inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia, is a hereditary degenerative disorder due to single missense mutations in vcp (valosin-containing protein).
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).
PubMedID- 20957154 Dominant mutations in the valosin containing protein (vcp) gene cause inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd).
PubMedID- 24291843 [inclusion body myopathy with paget's disease of bone and frontotemporal dementia].
PubMedID- 25716352 Inclusion body myopathy associated with paget's disease of bone and fronto-temporal dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in valosin containing protein (vcp) gene.
PubMedID- 21892620 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a progressive, fatal genetic disorder with variable penetrance, predominantly affecting three main tissue types: muscle (ibm), bone (pdb), and brain (ftd).
PubMedID- 23782824 [a case of inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) showing clinical features of motor neuron disease].
PubMedID- 23056506 Heterozygous mutations in the human vcp (p97) gene cause autosomal-dominant ibmpfd (inclusion body myopathy with early onset paget's disease of bone and frontotemporal dementia), als14 (amyotrophic lateral sclerosis with or without frontotemporal dementia) and hsp (hereditary spastic paraplegia).
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- 20147319 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (vcp) gene.
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- 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- 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- 22686199 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder caused by mutations in the valosin-containing protein (vcp) gene on chromosome 9p12-13.
PubMedID- 23440936 Less common genetic etiologies of ftld include: valosin-containing protein (vcp) resulting in inclusion body myopathy with paget's disease of bone and frontotemporal dementia with ftld-tdp subtype d neuropathology, tardbp coding for tdp-43 protein and causing als or als-ftld (rarely ftld-tdp alone), chmp2b coding for charged mutlivesciular body protein 2b and resulting in ftld-ups, and mutations in fus causing ftld-fus (figure 1b) (mackenzie et al., 2010).

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