INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA

Known as: MULTISYSTEM PROTEINOPATHY 1, Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia, MSP1 
A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD). PrLDs are low-complexity domains that… (More)
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Highly Cited
2010
Highly Cited
2010
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian… (More)
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2009
2009
Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's… (More)
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Highly Cited
2008
Highly Cited
2008
TAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One… (More)
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Highly Cited
2008
Highly Cited
2008
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a… (More)
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2007
2007
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in the AAA+ protein (ATPase associated with a variety of cellular activities) p97/VCP (valosin-containing protein… (More)
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Highly Cited
2006
Highly Cited
2006
Frontotemporal dementia (FTD) with inclusion body myopathy and Paget disease of bone (IBMPFD) is a rare, autosomal-dominant… (More)
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Highly Cited
2005
Highly Cited
2005
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary… (More)
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Highly Cited
2004
Highly Cited
2004
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive… (More)
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