Sep 2026
A De Novo 16p13.3 Triplication Underlying Early-Onset Complex Neurodegeneration.
BACKGROUND Neurodegenerative disorders are clinically and genetically heterogeneous, characterized by progressive neuronal loss and multidomain functional decline. Despite a presumed genetic etiology, a substantial proportion of cases remain molecularly undiagnosed. OBJECTIVE The aim was to identify the genetic cause...
Ze-Hong Zheng, Ru-Ying Yuan, Min Fang et al.
· Movement Disorders · 0 citations