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Annals of Neurology|December 8, 2023
RNA Foci in Two bi-Allelic RFC1 Expansion CarriersTaishi Wada, Hiroshi Doi, Masaki Okubo, et al.Brain Communications|May 9, 2025
Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitisYusuke Sakiyama, Jun-Hui Yuan, Akiko Yoshimura, et al.Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 30, 2024
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in JapaneseSatoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, et al.Neurobiology of Disease|June 24, 2019
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, et al.Pageof 4