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Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case. BMC Neurol 21 (1): 273, 2021.","DOI":"10.1186\/s12883-021-02306-5"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. A Sugiyama, N Sato, Y Kimura, et al. MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases. AJNR Am J Neuroradiol 38: 2100-2104, 2017.","DOI":"10.3174\/ajnr.A5336"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Luyao Xu, Hongxia Zhang, Hanye Yuan, Liwen Xie, Junliang Zhang, Zhigang Liang. Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns. Front Neurosci 17: 1247403, 2023.","DOI":"10.3389\/fnins.2023.1247403"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Wai-Yung Yu, Zheyu Xu, Hwei-Yee Lee, et al. 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Neurology 104: e213360, 2025.","DOI":"10.1212\/WNL.0000000000213360"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. M Marsel Mesulam. Temporopolar regions of the human brain. Brain 146 (1): 20-41, 2023.","DOI":"10.1093\/brain\/awac339"},{"key":"15","doi-asserted-by":"publisher","unstructured":"15. H S Markus, R J Martin, M A Simpson, et al. Diagnostic strategies in CADASIL. Neurology 59 (8): 1134-1138, 2002.","DOI":"10.1212\/WNL.59.8.1134"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Yui-Chung Lee, Chin-Ping Chung, Nai-Chen Chao, et al. Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease. Stroke 49: 1593-1601, 2018.","DOI":"10.1161\/STROKEAHA.118.021283"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Sara Leddy, Laura Serra, Davide Esposito, et al. Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis. 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