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Neurology and Clinical Neuroscience|September 22, 2017
Japanese <i>WDR45</i> de novo mutation diagnosed by exome analysis: A case reportHironobu Endo, Takeshi Uenaka, Wataru Satake, et al.Annals of Clinical and Translational Neurology|June 23, 2022
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth diseaseMasahiro Ando, Yujiro Higuchi, Junhui Yuan, et al.Brain : a Journal of Neurology|May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyYujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.Neurology. Genetics|June 14, 2019
Novel pathogenic <i>VPS13A</i> gene mutations in Japanese patients with chorea-acanthocytosisYoshiaki Nishida, Masayuki Nakamura, Yuka Urata, et al.Pageof 3