| 1 | SCA48, SCAR16, STUB1
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| Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
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| Pakdaman Y, Berland S, Bustad HJ, Erdal S, Thompson BA, James PA, Power KN, Ellingsen S, Krooni M, Berge LI, Sexton A, Bindoff LA, Knappskog PM, Johansson S, Aukrust I.
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| Int J Mol Sci. May 30;22(11):5870. doi: 10.3390/ijms22115870. 2021
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| 2 | SCA48, STUB1
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| Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).
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| Chen HY, Hsu CL, Lin HY, Lin YF, Tsai SF, Ho YJ, Li YR, Tsai JW, Teng SC, Lin CH.
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| J Biomed Sci. Sep 26;28(1):65. doi: 10.1186/s12929-021-00763-1 2021
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| 3 | SCA48
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| The "crab sign": an imaging feature of spinocerebellar ataxia type 48
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| Guerriero E, Ugga L, Salvatore E, Galatolo D, Riso V, Saccà F, Quarantelli M, Brunetti A.
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| Neuroradiology Sep;62(9):1095-1103. doi: 10.1007/s00234-020-02427-7. Epub 2020 Apr 14. 2020
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| 4 | SCA48, STUB1
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| Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
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| Mol MO, van Rooij JGJ, Brusse E, Verkerk AJMH, Melhem S, den Dunnen WFA, Rizzu P, Cupidi C, van Swieten JC, Donker Kaat L.
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| Neurol Genet. Mar 23;6(3):e417. doi: 10.1212/NXG.0000000000000417. 2020
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