Source:http://linkedlifedata.com/resource/pubmed/id/11781416
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2002-1-8
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pubmed:abstractText |
A mutation of the DYT1 gene, which codes for torsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. TorsinA immunohistochemistry was used to examine a case of DYT1, and several cases of non-DYT1, dystonia. No evidence was found for alterations of immunoreactivity at the light microscopic level, specifically neither cytoplasmic aggregations nor colocalization of torsinA immunoreactivity with a marker for endoplasmic reticulum. These findings contrast with results of recent cell culture studies of torsinA.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0028-3878
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
8
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
120-4
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pubmed:dateRevised |
2007-5-10
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pubmed:meshHeading |
pubmed-meshheading:11781416-Adult,
pubmed-meshheading:11781416-Brain,
pubmed-meshheading:11781416-Carrier Proteins,
pubmed-meshheading:11781416-Cytoplasm,
pubmed-meshheading:11781416-Dystonic Disorders,
pubmed-meshheading:11781416-Endoplasmic Reticulum,
pubmed-meshheading:11781416-Humans,
pubmed-meshheading:11781416-Immunohistochemistry,
pubmed-meshheading:11781416-Male,
pubmed-meshheading:11781416-Molecular Chaperones,
pubmed-meshheading:11781416-Mutation
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pubmed:year |
2002
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pubmed:articleTitle |
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.
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pubmed:affiliation |
Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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