Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
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DOI: 10.3389/fneur.2021.702039
Abstract: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and… read more here.
Keywords: patient taiep; longitudinal evaluation; patient; evaluation cerebellar ... See more keywords