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FeaturedJanuary 2025Jongmin Lee
Striatal D2 Receptor Upregulation in Myoclonus-Dystonia: A Review
A comprehensive review of the neurochemical basis of DYT-SGCE myoclonus-dystonia, examining D2 receptor upregulation in the striatum and its implications for understanding disease pathophysiology and therapeutic development.
Read Full PaperDOI: 10.5281/zenodo.19444397
Related Literature
Recent publications in SGCE, myoclonus-dystonia, and AAV gene therapy from PubMed.
Myoclonus-dystonia: an update on clinical features and pathophysiology
Weissbach A, Kasten M, Bruggemann N
Mov Disord · 2023
Epsilon-sarcoglycan mutations and genotype-phenotype correlation in myoclonus-dystonia
Grutz K, Seibler P, Klein C
Brain · 2022
AAV-mediated gene therapy approaches for neurological disorders: progress and challenges
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR
Nat Rev Neurol · 2021