Jun Mitsui - Graduate School of Medicine, The University of Tokyo

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论文共 233 篇作者统计合作学者相似作者

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DNA Sequencing and Other Methods of Exonic and Genomic Analyses

Jun Mitsui, Hiroyuki Ishiura,Shoji Tsuji

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.131-142, (2025)

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Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1

Naoki Takegami,Takashi Matsukawa,Masashi Hamada, Shuichi Tanifuji,Takayuki Tamura,Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura,Jun Mitsui,Kaori Sakuishi,Shoji Tsuji,Tatsushi Toda

Internal medicine (Tokyo, Japan)（2024）

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A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy

Akihiko Mitsutake,Takashi Matsukawa,Tatsuhiko Naito,Hiroyuki Ishiura,Jun Mitsui,Hiroaki Harada,Keishi Fujio, Jun Fujishiro,Harushi Mori,Shinichi Morishita,Shoji Tsuji,Tatsushi Toda

Internal medicine (Tokyo, Japan) (2024)

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Efficient variant phasing utilizing a replication cycle reaction system

Tatsushi Toda,Akihiko Mitsutake, Hiroyuki Ishiura,Takashi Matsukawa,Jun Mitsui,Shoji Tsuji

crossref（2024）

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Genetic and Pathophysiological Insights from Autopsied Patient with Primary Familial Brain Calcification: Novel MYORG Variants and Astrocytic Implications

Takahiro Hobara,Yujiro Higuchi,Mari Yoshida,Masahito Suehara,Masahiro Ando,Jun-Hui Yuan,Akiko Yoshimura,Fumikazu Kojima,Eiji Matsuura,Yuji Okamoto,Jun Mitsui,Shoji Tsuji,Hiroshi Takashima

Acta Neuropathologica Communications（2024）

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Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease

Takashi Matsukawa,Kristine Joyce L. Porto,Jun Mitsui,Ayaka Chikada, Hiroyuki Ishiura,Yuji Takahashi,Fumiko Kusunoki Nakamoto,Tomonari Seki,Yasushi Shiio,Tatsushi Toda,Shoji Tsuji

CEREBELLUM（2024）

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A Novel De Novo Disease-Causing Variant in ATL1 in a Pediatric Patient with Spastic Paraplegia

Ayumi Nakamura,Hiroya Naruse,Akihiko Mitsutake,Jun Mitsui,Shinichi Morishita, Mie Iwakoshi, Hiroyuki Ishiura,Shoji Tsuji,Tatsushi Toda

NEUROLOGY AND CLINICAL NEUROSCIENCE (2024)

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SPTLC2 Variants Are Associated with Early‐onset ALS and FTD Due to Aberrant Sphingolipid Synthesis

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYno. 4 (2024): 946-957

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Yoko Tsuboyama,Akiko Takahashi, Sawako Furukawa, Asem Almansour,Masashi Hamada,Akatsuki Kubota,Jun Shimizu,Makoto Kinoshita,Chisato Fujimoto,Jun Mitsui,Takashi Matsukawa,Hiroya Naruse, Hiroyuki Ishiura,Shoji Tsuji,Tatsushi Toda

Journal of neurologyno. 7 (2024): 4635-4638

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