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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2008-4-18
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pubmed:abstractText |
TDP-43 is a major component of the ubiquitinated inclusions that characterise amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitin inclusions (FTLD-U). TDP-43 is an RNA-binding and DNA-binding protein that has many functions and is encoded by the TAR DNA-binding protein gene (TARDBP) on chromosome 1. Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1).
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1474-4422
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pubmed:author |
pubmed-author:BekrisLynn MLM,
pubmed-author:BirdThomas DTD,
pubmed-author:Chen-PlotkinAlice SAS,
pubmed-author:ClayDanaD,
pubmed-author:ElmanLauren BLB,
pubmed-author:GalaskoDouglas RDR,
pubmed-author:GrossmanMurrayM,
pubmed-author:KalbRobertR,
pubmed-author:LeeVirginia M-YVM,
pubmed-author:LeverenzJames BJB,
pubmed-author:Martinez-LageMariaM,
pubmed-author:McCluskeyLeoL,
pubmed-author:MontineThomas JTJ,
pubmed-author:NeumannManuelaM,
pubmed-author:SchellenbergGerard DGD,
pubmed-author:SteinbartEllenE,
pubmed-author:TrojanowskiJohn QJQ,
pubmed-author:Van DeerlinVivianna MVM,
pubmed-author:WoodElisabeth McCartyEM,
pubmed-author:WuI-LinIL,
pubmed-author:YangWei-ShiungWS,
pubmed-author:YuChang-EnCE,
pubmed-author:YuanWuxingW
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
409-16
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pubmed:dateRevised |
2011-9-22
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pubmed:meshHeading |
pubmed-meshheading:18396105-Adolescent,
pubmed-meshheading:18396105-Adult,
pubmed-meshheading:18396105-Aged,
pubmed-meshheading:18396105-Aged, 80 and over,
pubmed-meshheading:18396105-Alanine,
pubmed-meshheading:18396105-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:18396105-Brain,
pubmed-meshheading:18396105-Child,
pubmed-meshheading:18396105-DNA Mutational Analysis,
pubmed-meshheading:18396105-DNA-Binding Proteins,
pubmed-meshheading:18396105-Dementia,
pubmed-meshheading:18396105-Family Health,
pubmed-meshheading:18396105-Female,
pubmed-meshheading:18396105-Glycine,
pubmed-meshheading:18396105-Humans,
pubmed-meshheading:18396105-Male,
pubmed-meshheading:18396105-Middle Aged,
pubmed-meshheading:18396105-Polymorphism, Single Nucleotide,
pubmed-meshheading:18396105-Serine,
pubmed-meshheading:18396105-Ubiquitin
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pubmed:year |
2008
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pubmed:articleTitle |
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
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pubmed:affiliation |
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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