title: De Novo mutations in the β-tubulin gene TUBB4: from DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome).
authors.affiliation: Department of Neurology, University of Kiel, Kiel, Germany.
authors.forename: Athanasia
authors.initials: A
authors.lastname: Alexoudi
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
mesh_terms: D001479:Basal Ganglia / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D011487:Protein Conformation; D014404:Tubulin / Q000235:genetics*
chemical_list: D014404:Tubulin