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Journal of the Neurological Sciences|October 1, 2025
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3Kenta Orimo, Takashi Matsukawa, Kazutaka Shiomi, et al.Neurobiology of Aging|October 17, 2017
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.Parkinsonism & Related Disorders|December 12, 2018
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletionYuta Ichinose, Hiroyuki Ishiura, Masaki Tanaka, et al.Journal of the Neurological Sciences|April 8, 2025
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathyKenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, et al.Biomedicines|July 27, 2022
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis PossibleMasahiro Ando, Yujiro Higuchi, Junhui Yuan, et al.Scientific Reports|July 21, 2020
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosisHiroki Hongo, Satoru Miyawaki, Hideaki Imai, et al.Clinical Neurology and Neurosurgery|May 15, 2022
A case of idiopathic normal pressure hydrocephalus with fragile X-associated tremor/ataxia syndromeRyo Oike, Yasuaki Inoue, Jun Mitsui, et al.Rinsho Shinkeigaku = Clinical Neurology|March 1, 2003
[A case of multiple sclerosis with pathological laughing caused by pontine base lesions]Yuhei Takado, Shuichi Igarashi, Yasuhisa Akaiwa, et al.Clinical and Experimental Nephrology|December 29, 2011
Serum albumin level accurately reflects antioxidant potentials in idiopathic nephrotic syndromeKazunari Kaneko, Takahisa Kimata, Shoji Tsuji, et al.Journal of the Neurological Sciences|September 11, 2010
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesisAyumi Hida, Hisatomo Kowa, Atsushi Iwata, et al.Pageof 53