Linked Life Data

17013904

Source:http://linkedlifedata.com/resource/pubmed/id/17013904

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-1-29
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0885-3185
pubmed:author
pubmed:copyrightInfo
Copyright 2006 Movement Disorder Society.
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
145-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
pubmed:affiliation
Department of Neurology, University of Lübeck, Lübeck, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't