| 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 | SCAR16, STUB1
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| Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
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| Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M.
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| Neurology 82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
2014
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| 3 | SCAR16, STUB1
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| Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.
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| Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P.
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| Orphanet J Rare Dis 9:57. doi: 10.1186/1750-1172-9-57.
2014
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