The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype
Author:
Funder
Ministry of Education
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-022-01368-6.pdf
Reference15 articles.
1. Riso V, Galatolo D, Barghigiani M, Galosi S, Tessa A, Ricca I, et al. A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21. Eur J Neurol. 2021. https://doi.org/10.1111/ene.14868.
2. Yahikozawa H, Miyatake S, Sakai T, Uehara T, Yamada M, Hanyu N, et al. A Japanese family of Spinocerebellar ataxia type 21: clinical and neuropathological studies. Cerebellum. 2018;17(5):525–30. https://doi.org/10.1007/s12311-018-0941-6.
3. Camargo CHF, Piva-Silva AKC, Munhoz RP, Raskin S, Teive HAG. Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia. Eur J Neurol. 2021. https://doi.org/10.1111/ene.14944.
4. Zeng S, Zeng J, He M, Zeng X, Zhou Y, Liu Z, et al. Spinocerebellar ataxia type 21 exists in the Chinese Han population. Sci Rep. 2016;6:19897. https://doi.org/10.1038/srep19897.
5. Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain. 2014;137(Pt 10):2657–63. https://doi.org/10.1093/brain/awu202.
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