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Spinocerebellar ataxia type 48: last but not least.

作者信息

De Michele Giuseppe, Santorelli Filippo

机构信息

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

IRCCS Fondazione Stella Maris, Pisa, Italy.

出版信息

Neurol Sci. 2021 Apr;42(4):1577. doi: 10.1007/s10072-020-04812-9. Epub 2020 Oct 13.

DOI:10.1007/s10072-020-04812-9
PMID:33048271
Abstract
摘要

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本文引用的文献

1
Spinocerebellar ataxia type 48: last but not least.48型脊髓小脑共济失调:最后但同样重要。
Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27.
2
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.SCAR16中的首发认知衰退、疾病晚期发作及新型STUB1变异体
Neurol Sci. 2018 Dec;39(12):2231-2233. doi: 10.1007/s10072-018-3545-5. Epub 2018 Sep 11.
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
序列变异解读的标准与指南:美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.