pubmed-article:17013904 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:17013904 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
pubmed-article:17013904 | lifeskim:mentions | umls-concept:C0242422 | lld:lifeskim |
pubmed-article:17013904 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:17013904 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
pubmed-article:17013904 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
pubmed-article:17013904 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:17013904 | pubmed:dateCreated | 2007-1-29 | lld:pubmed |
pubmed-article:17013904 | pubmed:abstractText | The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers. | lld:pubmed |
pubmed-article:17013904 | pubmed:language | eng | lld:pubmed |
pubmed-article:17013904 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17013904 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:17013904 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17013904 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17013904 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:17013904 | pubmed:month | Jan | lld:pubmed |
pubmed-article:17013904 | pubmed:issn | 0885-3185 | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:MünchauAlexan... | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:KleinChristin... | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:HedrichKatjaK | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:Schneider-Gol... | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:HagenahJohann... | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:DjarmatiAnaA | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:KressWolfgang... | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:HillerAnjaA | lld:pubmed |
pubmed-article:17013904 | pubmed:author | pubmed-author:ReetzKathrinK | lld:pubmed |
pubmed-article:17013904 | pubmed:copyrightInfo | Copyright 2006 Movement Disorder Society. | lld:pubmed |
pubmed-article:17013904 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:17013904 | pubmed:volume | 22 | lld:pubmed |
pubmed-article:17013904 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:17013904 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:17013904 | pubmed:pagination | 145-7 | lld:pubmed |
pubmed-article:17013904 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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pubmed-article:17013904 | pubmed:meshHeading | pubmed-meshheading:17013904... | lld:pubmed |
pubmed-article:17013904 | pubmed:year | 2007 | lld:pubmed |
pubmed-article:17013904 | pubmed:articleTitle | Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. | lld:pubmed |
pubmed-article:17013904 | pubmed:affiliation | Department of Neurology, University of Lübeck, Lübeck, Germany. | lld:pubmed |
pubmed-article:17013904 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:17013904 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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