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Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease

Crossref DOI link: https://doi.org/10.1007/s12311-024-01762-2

Published Online: 2024-12-16

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Zochowski, Yan

Kumar, Kishore R.

Katz, Matthew

Darveniza, Paul

Tchan, Michel

Smyth, Renee

Tomlinson, Susan

Wu, Kathy H. C.

Tisch, Stephen
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Text and Data Mining valid from 2024-12-16

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Article History

Accepted: 1 November 2024

First Online: 16 December 2024

Declarations

:

: All participants provided written informed consent (n = 3) and the study was approved by the Ethics Committee at The University of Notre Dame, Australia.

: The authors declare no competing interests.

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