Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease
Titel:
Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease
Auteur:
Zochowski, Yan Kumar, Kishore R. Katz, Matthew Darveniza, Paul Tchan, Michel Smyth, Renee Tomlinson, Susan Wu, Kathy H. C. Tisch, Stephen