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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2009-8-25
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pubmed:abstractText |
Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multisystem disorder of frontotemporal lobar degeneration (FTLD), inclusion body myopathy (IBM), and Paget disease of bone (PDB), referred to as IBMPFD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:CrutsMM,
pubmed-author:De DeynP PPP,
pubmed-author:EngelborghsSS,
pubmed-author:HaubenbergerDD,
pubmed-author:HoffmannMM,
pubmed-author:Kumar-SinghSS,
pubmed-author:MartinJ-JJJ,
pubmed-author:MattheijssensMM,
pubmed-author:PeetersKK,
pubmed-author:PiriciDD,
pubmed-author:PusswaldGG,
pubmed-author:Van BroeckhovenCC,
pubmed-author:Van LangenhoveTT,
pubmed-author:Van den BroeckMM,
pubmed-author:VandenbergheRR,
pubmed-author:ZimprichAA,
pubmed-author:van der ZeeJJ
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pubmed:issnType |
Electronic
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pubmed:day |
25
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
626-32
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19704082-Adenosine Triphosphatases,
pubmed-meshheading:19704082-Aged,
pubmed-meshheading:19704082-Aged, 80 and over,
pubmed-meshheading:19704082-Arginine,
pubmed-meshheading:19704082-Cell Cycle Proteins,
pubmed-meshheading:19704082-Dementia,
pubmed-meshheading:19704082-Female,
pubmed-meshheading:19704082-Follow-Up Studies,
pubmed-meshheading:19704082-Genetic Heterogeneity,
pubmed-meshheading:19704082-Genetic Linkage,
pubmed-meshheading:19704082-Histidine,
pubmed-meshheading:19704082-Humans,
pubmed-meshheading:19704082-Male,
pubmed-meshheading:19704082-Middle Aged,
pubmed-meshheading:19704082-Mutation, Missense,
pubmed-meshheading:19704082-Myositis, Inclusion Body,
pubmed-meshheading:19704082-Osteitis Deformans,
pubmed-meshheading:19704082-Pedigree,
pubmed-meshheading:19704082-Penetrance,
pubmed-meshheading:19704082-Prospective Studies
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pubmed:year |
2009
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pubmed:articleTitle |
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
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pubmed:affiliation |
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
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pubmed:publicationType |
Journal Article,
Clinical Trial,
Comparative Study,
Case Reports,
Research Support, Non-U.S. Gov't
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