|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2008-1-28
|
|
pubmed:abstractText |
DYT1 dystonia is the most common form of inherited primary dystonia. The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1 mutation in the Polish population, and 4) to define the group of patients in whom genetic testing is recommended.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0028-3843
|
|
pubmed:author |
pubmed-author:?obi?skaAlicjaA,
pubmed-author:BoguckiAndrzejA,
pubmed-author:BudrewiczS?awomirS,
pubmed-author:GajosAgataA,
pubmed-author:HonczarenkoKrystynaK,
pubmed-author:KoszewiczMagdalenaM,
pubmed-author:LiberskiPawe? PPP,
pubmed-author:Ochud?oStanis?awS,
pubmed-author:OpalaGrzegorzG,
pubmed-author:Pe?szy?skaBarbaraB,
pubmed-author:PiaskowskiSylwesterS,
pubmed-author:S?awekJaros?awJ
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
41
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
487-94
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:18224570-Adolescent,
pubmed-meshheading:18224570-Adult,
pubmed-meshheading:18224570-Dystonia,
pubmed-meshheading:18224570-Dystonic Disorders,
pubmed-meshheading:18224570-Female,
pubmed-meshheading:18224570-Genetic Predisposition to Disease,
pubmed-meshheading:18224570-Genetic Variation,
pubmed-meshheading:18224570-Humans,
pubmed-meshheading:18224570-Male,
pubmed-meshheading:18224570-Middle Aged,
pubmed-meshheading:18224570-Molecular Chaperones,
pubmed-meshheading:18224570-Mutation,
pubmed-meshheading:18224570-Phenotype,
pubmed-meshheading:18224570-Poland,
pubmed-meshheading:18224570-Prevalence
|
|
pubmed:articleTitle |
Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.
|
|
pubmed:affiliation |
Oddzia? Kliniczny Chorób Uk?adu Pozapiramidowego Uniwersytetu Medycznego w ?odzi. agata-gajos@wp.pl
|
|
pubmed:publicationType |
Journal Article
|
