Latest Articles
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- ArticleCharacterization of the phenotype with cognitive impairment and protein mislocalization in SCA34Marie Beaudin, Leila Sellami, Christian Martel, et al.February 20, 2020
- ArticleHeterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalizationDong-Hui Chen, Caitlin Latimer, Mayumi Yagi, et al.February 20, 2020
- Clinical/Scientific NotesGerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonismSimone Baiardi, Romana Rizzi, Sabina Capellari, et al.February 14, 2020
- ArticleBiallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxiaYukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.January 16, 2020
- ArticleIncidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohortJennifer Roggenbuck, Marilly Palettas, Leah Vicini, et al.January 13, 2020
- ArticleDelineating MT-ATP6-associated diseaseFrom isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.January 13, 2020
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