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Rinsho Shinkeigaku = Clinical Neurology|January 27, 2012
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]Hiroyuki Ishiura, Shoji TsujiPediatrics International : Official Journal of the Japan Pediatric Society|July 10, 2023
Management of treatment-resistant nocturnal enuresisShoji Tsuji, Kazunari KanekoCerebellum (London, England)|December 28, 2024
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual DisabilityAkihiko Mitsutake, Mizuho Kawai, Kenta Orimo, et al.Internal Medicine (Tokyo, Japan)|August 9, 2023
Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1Naoki Takegami, Takashi Matsukawa, Masashi Hamada, et al.Rinsho Shinkeigaku = Clinical Neurology|December 3, 2013
[Toward identification of susceptible genes for sporadic neurodegenerative disease]Jun MitsuiRinsho Shinkeigaku = Clinical Neurology|January 27, 2012
[Genetics of sporadic disease: insights from high-throughput sequencing --Parkinson disease]Jun MitsuiBrain & Development|April 20, 2023
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe diseaseAkihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, et al.Internal Medicine (Tokyo, Japan)|July 31, 2024
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic EncephalopathyAkihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, et al.Journal of Human Genetics|September 14, 2019
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomesHaitian Nan, Yuta Ichinose, Masaki Tanaka, et al.Journal of the Neurological Sciences|June 22, 2013
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, et al.Pageof 53