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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0029401|paget\'s disease
Sentences 48
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- 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- 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- 24291843 [inclusion body myopathy with paget's disease of bone and frontotemporal dementia].
PubMedID- 22518139 Mutations in p97/vcp cause inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) [107].
PubMedID- 24348398 Inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) is a rare late-onset autosomal dominant multi-system disorder, with variable penetrance of three typical clinical components: inclusion body myopathy, paget's disease and frontotemporal dementia (behavioural form).
PubMedID- 22579784 Missense mutations that occur at the interface between two functional domains in the aaa protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd).
PubMedID- 25149037 Mutations of the valosin containing protein are instead responsible for hereditary inclusion-body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd), with these three phenotypic features having a variable penetrance.
PubMedID- 25852467 (2013) has showed r155h (464 g>a) mutation of the vcp gene in a french family, led to the inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd), with a psychiatric onset of ftd.
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- 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- 20410287 Inclusion body myopathy associated with paget's disease of the bone and fronto-temporal dementia (ibmpfd) is a progressive autosomal dominant disorder caused by mutations in p97/vcp (valosin-containing protein).
PubMedID- 21222596 Inclusion body myopathy (ibm) associated with paget's disease of the bone (pdb) and fronto-temporal dementia (ftd) or ibmpfd, is a rare multisystem degenerative disorder due to mutations in valosin containing protein (vcp).
PubMedID- 25447673 A genetic deficiency of vcp can cause inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd).
PubMedID- 23250913 Mutations in valosin-containing protein (vcp) cause inclusion body myopathy (ibm) associated with paget's disease of the bone, fronto-temporal dementia and amyotrophic lateral sclerosis (ibmpfd/als).
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- 22900631 Background and purpose: the phenotype of ibmpfd [inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ftd)] associated with valosin-containing protein (vcp) mutation is described in three families.
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- 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- 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- 24167726 More importantly, mutations in cdc48 have been linked directly to neurodegenerative diseases including inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als) [85, 86, 104].
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- 22078486 Vcp mutations are known to cause inclusion body myopathy (ibm) with paget's disease (pdb) and frontotemporal dementia (ftd).
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- 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- 20116073 The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with paget's disease but without dementia.
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- 23140793 Inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (vcp).
PubMedID- 21552523 Recent analyses on tissues from patients suffering from inclusion body myopathy (ibm) associated with paget's disease of the bone and fronto-temporal dementia (pfd) appear to support this hypothesis [38].
PubMedID- 21103003 P97 has human disease relevance as it is mutated in familial cases of inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd).
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- 26112410 Moreover, nfkb2 mrna levels were aberrantly down-regulated in patients with inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd), a disease caused by mutation of p97.
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- 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- 26511028 The same amino acid transformation as that of this patient has been reported to be involved in the pathogenesis of inclusion body myopathy with paget's disease of the bone and frontotemporal dementia.
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- 25545721 Inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia is attributed to mutations in the valosin-containing protein (vcp) gene, mapped to chromosomal region 9p13.3-12.
PubMedID- 23782134 Mutations in vcp are known to cause inclusion body myopathy with paget's disease and frontotemporal dementia and familial amyotrophic lateral sclerosis (fals; als14), both of which are characterized by trans-activation response dna protein 43 (tdp-43)-positive neuronal cytoplasmic and nuclear inclusions.
PubMedID- 22420316 Vcp mutations were known to cause a rare autosomal dominant disorder with inclusion body myopathy (ibm) associated with paget's disease of the bone (pdb) and ftld, denoted as ibmpfd (105).
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- 24707269 Unusual clinical presentation and the age of this patient could raise the possibility of inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) caused by mutations in the vasolin-containing protein (vcp) gene.
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- 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- 24196964 Single amino acid substitutions in p97 have been linked to a clinical multiple-disorder condition known as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia.
PubMedID- 25125609 Mutations in vcp have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis.
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- 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.
PubMedID- 25658828 The p97/cdc48 protein is essential for viability, but single site variants in human p97 have been linked to amyotrophic lateral sclerosis (als) [17] and to the multiple-disorder known as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) [18] [19].

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