Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"TOR1A"”.
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An Investigation of TorsinA Interaction Partners
… is implicated in the neuromuscular disorder DYT-TOR1A early-onset isolated dystonia. DYT-TOR1A is a heritable form of dystonia characterized by involuntary twisting movements and postures that arise during adolescence. A glutamate deletion towards the C terminus of TorsinA leads to DYT-TOR1A by …
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TorsinA and the Pathophysiology of DYT1 Dystonia
… Deletion of glutamic acid residue 302/303 in <em>TOR1A</em> is causally associated with many cases of early-onset primary dystonia. </p> <p>In our work, transient forebrain ischemia and sciatic nerve transection were used as central and peripheral neural perturbations, respectively, to gain …