|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0019425,
umls-concept:C0019904,
umls-concept:C0026882,
umls-concept:C0030567,
umls-concept:C0035820,
umls-concept:C0205171,
umls-concept:C0205210,
umls-concept:C1422771,
umls-concept:C1556085,
umls-concept:C1708373,
umls-concept:C2827424
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2006-6-13
|
|
pubmed:abstractText |
Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear.
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0003-9942
|
|
pubmed:author |
pubmed-author:BinkofskiFerdinandF,
pubmed-author:BostonHeatherH,
pubmed-author:DjarmatiAnaA,
pubmed-author:GrünewaldAnneA,
pubmed-author:HagenahJohannJ,
pubmed-author:HedrichKatjaK,
pubmed-author:HilkerRüdigerR,
pubmed-author:HillerAnjaA,
pubmed-author:KleinChristineC,
pubmed-author:KockNormanN,
pubmed-author:KressWolframW,
pubmed-author:LasekKathrinK,
pubmed-author:LencerRebekkaR,
pubmed-author:LohnauThoraT,
pubmed-author:MünchauAlexanderA,
pubmed-author:Schneider-GoldChristianeC,
pubmed-author:SiebnerHartwigH,
pubmed-author:SteinlechnerSusanneS
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
63
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
833-8
|
|
pubmed:dateRevised |
2009-11-19
|
|
pubmed:meshHeading |
pubmed-meshheading:16769864-Adult,
pubmed-meshheading:16769864-Age of Onset,
pubmed-meshheading:16769864-Aged,
pubmed-meshheading:16769864-DNA Mutational Analysis,
pubmed-meshheading:16769864-Family Health,
pubmed-meshheading:16769864-Female,
pubmed-meshheading:16769864-Genetic Predisposition to Disease,
pubmed-meshheading:16769864-Germany,
pubmed-meshheading:16769864-Heterozygote,
pubmed-meshheading:16769864-Homozygote,
pubmed-meshheading:16769864-Humans,
pubmed-meshheading:16769864-Male,
pubmed-meshheading:16769864-Middle Aged,
pubmed-meshheading:16769864-Mutation,
pubmed-meshheading:16769864-Parkinson Disease,
pubmed-meshheading:16769864-Protein Kinases
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
|
|
pubmed:affiliation |
Department of Neurology, University of Lübeck, Germany.
|
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
