Publications by authors named "Jun Mitsui"

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Genetic Analysis of Intracranial Schwannomas: Differential NF2 Alteration Frequencies in Nonvestibular Schwannomas Versus Vestibular Schwannomas.
Kenta Ohara, Satoru Miyawaki, Yu Teranishi, Daisuke Komura, Jun Mitsui

Neurosurgery· January 2026

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Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous Malformations.
Hiroki Hongo, Satoru Miyawaki, Keisuke Takai, Hideaki Ono, Masahiro Shimizu, Jun Mitsui

Transl Stroke Res· December 2025

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Erratum: Vanishing White Matter Disease With c.254T>A Variant: Mild Clinical and MRI Findings.
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, Yoko Tsuboyama, Yasufumi Hayashi, Jun Mitsui

Neurol Genet· December 2025

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Frameshift and Copy Number Variants in -Related Neuropathy.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Yu Hiramatsu, Akiko Yoshimura, Jun Mitsui

Neurol Genet· December 2025

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Novel in-frame duplication variant of in a Japanese family with familial amyotrophic lateral sclerosis.
Masanori Nakajima, Hiroya Naruse, Yuichi Riku, Kunihiro Ueda, Takashi Matsukawa, Jun Mitsui

Amyotroph Lateral Scler Frontotemporal Degener· December 2025

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Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui

J Hum Genet· December 2025

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A Biallelic Deletion Underlies Truncus Arteriosus.
Yumi Enomoto, Takuya Naruto, Jun Mitsui, Hideaki Ueda, Kenji Kurosawa

Mol Syndromol· December 2025

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Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3.
Kenta Orimo, Takashi Matsukawa, Kazutaka Shiomi, Ryoji Goto, Akihiko Mitsutake, Jun Mitsui

J Neurol Sci· November 2025

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Efficient variant phasing utilizing a replication cycle reaction system.
Akihiko Mitsutake, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji

Genet Med Open· November 2025

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Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Jun Mitsui

Ann Clin Transl Neurol· November 2025

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A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi

Ann Neurol· November 2025

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Vanishing White Matter Disease With c.254 >A Variant: Mild Clinical and MRI Findings.
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, Yoko Tsuboyama, Yasufumi Hayashi, Jun Mitsui

Neurol Genet· October 2025

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RNF213 c.14429G > A (p.Arg4810Lys) is associated with non-arteritic retinal artery occlusion.
Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Jun Mitsui

Sci Rep· October 2025

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INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Jun Mitsui

Ann Clin Transl Neurol· September 2025

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Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Chikashi Yano, Jun Mitsui

Ann Clin Transl Neurol· September 2025

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Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.
Akihiko Mitsutake, Takashi Matsukawa, Rimi Hino, Go Fujino, Yuto Sakai, Jun Mitsui

Intern Med· August 2025

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Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.
So Okubo, Takashi Matsukawa, Norifumi Kawamoto, Masahiko Tsujita, Kenta Orimo, Jun Mitsui

J Hum Genet· July 2025

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Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.
Takahiro Hobara, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Jun Mitsui

J Neurol· July 2025

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Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy.
Kenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, Takusei Cho, Hiroya Naruse, Jun Mitsui

J Neurol Sci· May 2025

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A subgroup of multiple system atrophy with rapid decline in vital capacity.
So Okubo, Kenta Orimo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Jun Mitsui

J Neurol Sci· February 2025

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SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Chikashi Yano, Jun Mitsui

J Neurol· February 2025

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In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.
Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Jun Mitsui

Hum Genome Var· February 2025

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p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis.
Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Jun Mitsui

Brain Commun· January 2025

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Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki, Jun Mitsui

J Neurol· December 2024

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A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Akihiko Mitsutake, Mizuho Kawai, Kenta Orimo, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui

Cerebellum· December 2024

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