Iakov Efimenko

Iakov Efimenko
University of Miami Miller School of Medicine | UM · Division of Plastic, Aesthetic and Reconstructive Surgery

About

2
Publications
135
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23
Citations
Citations since 2017
2 Research Items
23 Citations
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20172018201920202021202220230246810
20172018201920202021202220230246810
20172018201920202021202220230246810

Publications

Publications (2)
Article
Full-text available
DYT-TOR1A or DYT1 early-onset generalized dystonia is an inherited movement disorder characterized by sustained muscle contractions causing twisting, repetitive movements, or abnormal postures. The majority of the DYT1 dystonia patients have a trinucleotide GAG deletion in DYT1/TOR1A. Trihexyphenidyl (THP), an antagonist for excitatory muscarinic a...
Article
DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder characterized by abnormal postures and repeated movements. It is caused mainly by a heterozygous trinucleotide deletion in DYT1/TOR1A, coding for torsinA. The mutation may lead to a partial loss of torsinA function. Functional alterations of the basal ganglia circuits h...

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