A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12311-024-01664-3.pdf
Reference23 articles.
1. Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia[J]. Nat Rev Dis Primers. 2019;5(1):24.
2. Coarelli G, Brice A, Durr A. Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view. F1000Res. 2018;7:F1000 Faculty Rev–1781.
3. Toyoshima Y, Takahashi H. Spinocerebellar ataxia type 17 (SCA17). Adv Exp Med Biol. 2018;1049:219–31.
4. Nanetti L, Magri S, Fichera M, Castaldo A, Nigri A, Pinardi C, Mongelli A, Sarro L, Pareyson D, Grisoli M, Gellera C, Di Bella D, Mariotti C, Taroni F. Complex ataxia-dementia phenotype in patients with digenic TBP/STUB1 spinocerebellar ataxia. Movement Disorders. 2023;38(4):665–75.
5. Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genetics Med. 2022;24(1):29–40.
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