pubmed-article:19087301 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C0752105 | lld:lifeskim |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C1422771 | lld:lifeskim |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C0237881 | lld:lifeskim |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C0021149 | lld:lifeskim |
pubmed-article:19087301 | lifeskim:mentions | umls-concept:C0750502 | lld:lifeskim |
pubmed-article:19087301 | pubmed:dateCreated | 2009-2-4 | lld:pubmed |
pubmed-article:19087301 | pubmed:abstractText | Parkinson's disease is a progressive neurodegenerative disorder, where most cases are sporadic with a late onset. In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions the DJ-1 (PARK7) or ATP13A2 (PARK9) gene. Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. | lld:pubmed |
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pubmed-article:19087301 | pubmed:language | eng | lld:pubmed |
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pubmed-article:19087301 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:19087301 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:19087301 | pubmed:issn | 1471-2377 | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:KlunglandHelg... | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:MyhreRonnyR | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:NusierMohamad... | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:HoranyKhalidK | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:SteinkjerStin... | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:StormyrAliceA | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:NilsenGina... | lld:pubmed |
pubmed-article:19087301 | pubmed:author | pubmed-author:Abu... | lld:pubmed |
pubmed-article:19087301 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:19087301 | pubmed:volume | 8 | lld:pubmed |
pubmed-article:19087301 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:19087301 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:19087301 | pubmed:pagination | 47 | lld:pubmed |
pubmed-article:19087301 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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pubmed-article:19087301 | pubmed:year | 2008 | lld:pubmed |
pubmed-article:19087301 | pubmed:articleTitle | Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism. | lld:pubmed |
pubmed-article:19087301 | pubmed:affiliation | Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway. ronny.myhre@ntnu.no | lld:pubmed |
pubmed-article:19087301 | pubmed:publicationType | Journal Article | lld:pubmed |
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