Linked Life Data

19345148

Source:http://linkedlifedata.com/resource/pubmed/id/19345148

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-4-20
pubmed:abstractText
DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region. Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1474-4422
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
447-52
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:19345148-Adolescent, pubmed-meshheading:19345148-Adult, pubmed-meshheading:19345148-Age of Onset, pubmed-meshheading:19345148-Aged, pubmed-meshheading:19345148-Apoptosis Regulatory Proteins, pubmed-meshheading:19345148-Child, pubmed-meshheading:19345148-Child, Preschool, pubmed-meshheading:19345148-DNA Mutational Analysis, pubmed-meshheading:19345148-DNA-Binding Proteins, pubmed-meshheading:19345148-Dystonia, pubmed-meshheading:19345148-Family, pubmed-meshheading:19345148-Female, pubmed-meshheading:19345148-Genetic Testing, pubmed-meshheading:19345148-Humans, pubmed-meshheading:19345148-Infant, pubmed-meshheading:19345148-Male, pubmed-meshheading:19345148-Middle Aged, pubmed-meshheading:19345148-Mutation, pubmed-meshheading:19345148-Nuclear Proteins, pubmed-meshheading:19345148-Pedigree, pubmed-meshheading:19345148-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:19345148-Young Adult
pubmed:year
2009
pubmed:articleTitle
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
pubmed:affiliation
Schilling Department of Clinical and Molecular Neurogenetics, University of Lübeck, Lübeck, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't