Source:http://linkedlifedata.com/resource/pubmed/id/19940479
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2009-12-17
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pubmed:abstractText |
Alterations in gene dosage have recently been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, and deletions of the progranulin (PGRN) locus were recently described in patients with frontotemporal lobar degeneration (FTLD). FTLD is a genetically complex neurodegenerative disorder with mutations in the PGRN and the microtubule-associated protein tau (MAPT) genes being the most common known causes of familial FTLD. In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1421-9824
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pubmed:author |
pubmed-author:BrundinRosemarieR,
pubmed-author:FreemanStefanie HSH,
pubmed-author:FroschMatthew PMP,
pubmed-author:GiedraitisVilmantasV,
pubmed-author:GlaserAnnaA,
pubmed-author:GrowdonJohn HJH,
pubmed-author:HymanBradley TBT,
pubmed-author:IngelssonMartinM,
pubmed-author:IngvastSofieS,
pubmed-author:LannfeltLarsL,
pubmed-author:MatsuiToshifumiT,
pubmed-author:SkoglundLenaL
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pubmed:copyrightInfo |
Copyright 2009 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
471-5
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pubmed:meshHeading |
pubmed-meshheading:19940479-Frontotemporal Lobar Degeneration,
pubmed-meshheading:19940479-Gene Deletion,
pubmed-meshheading:19940479-Gene Dosage,
pubmed-meshheading:19940479-Gene Duplication,
pubmed-meshheading:19940479-Humans,
pubmed-meshheading:19940479-Intercellular Signaling Peptides and Proteins,
pubmed-meshheading:19940479-Nucleic Acid Amplification Techniques,
pubmed-meshheading:19940479-tau Proteins
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pubmed:year |
2009
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pubmed:articleTitle |
No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
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pubmed:affiliation |
Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. Lena.Skoglund@pubcare.uu.se
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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