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Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family |
Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee |
JMD. 2020;13(3):244-246. Published online 2020 September 9 DOI: https://doi.org/10.14802/jmd.20064 |
Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells Human Pluripotent Stem Cell-Derived Cerebellar Neurons: From Development to Modeling Cerebellar Ataxias Spinocerebellar Ataxia Type 6 and Episodic Ataxia Type 2 in a Korean Family Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage Poster 230: Paraneoplastic Syndrome Presenting as Cerebellar Ataxia and Bulbar Dysarthria: A Case Report Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome) Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23 Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy |
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