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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2009-1-15
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pubmed:abstractText |
Frontotemporal lobar degeneration (FTLD) consists of a clinically and neuropathologically heterogeneous group of syndromes affecting the frontal and temporal lobes of the brain. Mutations in microtubule-associated protein tau (MAPT), progranulin (PGRN) and charged multi-vesicular body protein 2B (CHMP2B) are associated with familial forms of the disease. The prevalence of these mutations varies between populations. The H1 haplotype of MAPT has been found to be closely associated with tauopathies and with sporadic FTLD. Our aim was to investigate MAPT mutations and haplotype frequencies in a clinical series of patients with FTLD in Northern Finland.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19091059-10072441,
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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:issn |
1471-2377
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
48
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:19091059-Adult,
pubmed-meshheading:19091059-Aged,
pubmed-meshheading:19091059-Alzheimer Disease,
pubmed-meshheading:19091059-Apolipoprotein E4,
pubmed-meshheading:19091059-Cross-Sectional Studies,
pubmed-meshheading:19091059-Dementia,
pubmed-meshheading:19091059-Female,
pubmed-meshheading:19091059-Finland,
pubmed-meshheading:19091059-Gene Frequency,
pubmed-meshheading:19091059-Genetic Predisposition to Disease,
pubmed-meshheading:19091059-Haplotypes,
pubmed-meshheading:19091059-Humans,
pubmed-meshheading:19091059-Male,
pubmed-meshheading:19091059-Middle Aged,
pubmed-meshheading:19091059-Mutation,
pubmed-meshheading:19091059-Pedigree,
pubmed-meshheading:19091059-tau Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
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pubmed:affiliation |
Department of Neurology, University of Oulu, Oulu, Finland. annalott@mail.student.oulu.fi
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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