Publications by authors named "Alexander Thorvaldsson"
J Belg Soc Radiol
December 2022
Article Synopsis
- * Genetic analysis confirmed the presence of a STUB1 mutation, linking her condition to SCAR-16, a type of STUB1-associated cerebellar ataxia.
- * The report aims to educate radiologists on the MRI and CT features of this condition and how to distinguish between SCAR-16 and SCA-48 types of STUB1-associated cerebellar ataxia.
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