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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… 
National Institutes of Health

Related topics

Related topics

13 relations
Aphasia, ExpressiveAutosomal dominant inheritanceBack PainDistal amyotrophy

Broader (4)

Frontotemporal dementiaInclusion Body Myositis (disorder)Muscular Dystrophies, Limb-GirdleOsteitis Deformans

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
RNA-binding proteins with prion-like domains in health and disease.
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD). PrLDs are low-complexity domains that… 
Review
2014
Review
2014
Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research
Genetic insights into the pathophysiology of amyotrophic lateral sclerosis (ALS) are untangling the clinical heterogeneity that… 
Highly Cited
2013
Highly Cited
2013
A Newly Uncovered Group of Distantly Related Lysine Methyltransferases Preferentially Interact with Molecular Chaperones to Regulate Their Activity
Methylation is a post-translational modification that can affect numerous features of proteins, notably cellular localization… 
2011
2011
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Summary Disease characteristics. Inclusion body myopathy associated with Paget disease of bone (PDB)and/or frontotemporal… 
Highly Cited
2009
Highly Cited
2009
A novel mutation in the VCP gene (G157R) in a german family with inclusion‐body myopathy with paget disease of bone and frontotemporal dementia
Mutations in the valosin‐containing protein (VCP) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's… 
Highly Cited
2008
Highly Cited
2008
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a… 
Highly Cited
2007
Highly Cited
2007
Pathological consequences of VCP mutations on human striated muscle.
Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 cause a late-onset form of autosomal dominant… 
Highly Cited
2007
Highly Cited
2007
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been… 
Highly Cited
2003
Highly Cited
2003
The MSP1 Gene Is Necessary to Restrict the Number of Cells Entering into Male and Female Sporogenesis and to Initiate Anther Wall Formation in Rice Article, publication date, and citation information…
The function of the novel gene MSP1 (MULTIPLE SPOROCYTE), which controls early sporogenic development, was elucidated by… 
Highly Cited
1992
Highly Cited
1992
Longitudinal study of Plasmodium falciparum polymorphic antigens in a malaria-endemic population
Plasmodium falciparum merozoite surface antigens MSP1 and MSP2 and an exported antigen, Exp-1, exhibit allelic polymorphism in… 
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