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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… Expand
National Institutes of Health

Papers overview

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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… Expand
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Highly Cited
2010
Highly Cited
2010
VCP (VCP/p97) is a ubiquitously expressed member of the AAA+-ATPase family of chaperone-like proteins that regulates numerous… Expand
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Highly Cited
2010
Highly Cited
2010
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is a dominantly inherited… Expand
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Highly Cited
2009
Highly Cited
2009
Accumulation of autophagosomes because of impaired autophagy during valosin-containing protein (VCP)–linked dementia is explained… Expand
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Highly Cited
2009
Highly Cited
2009
ABSTRACT Substantial evidence indicates that antibodies to Plasmodium falciparum merozoite antigens play a role in protection… Expand
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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… Expand
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Highly Cited
2007
Highly Cited
2007
Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 cause a late-onset form of autosomal dominant… Expand
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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… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
The function of the novel gene MSP1 (MULTIPLE SPOROCYTE), which controls early sporogenic development, was elucidated by… Expand
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