Review
Sep 2026
Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review
Cranio-cervical involvement and prominent bulbar symptoms may represent important clinical clues suggesting DYT-THAP1 in patients with generalized dystonia, highlighting the importance of careful phenotypic characterization.
Juan Sebastián Sánchez León, T. Denicol, C. M. Dagostini et al.
· Neurogenetics · 0 citations