Shoji Tsuji

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 35

Top Venues

Journal of human genetics

Scientific reports

Nature genetics

Neurogenetics

International University of Health and Welfare

University of Tokyo Hospital (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

International University of Health and Welfare Apr 01 2017

Japan

Professor :: Institute of Medical Genomics

University of Tokyo Hospital Apr 01 2017

Japan

Project Professor :: Department

Education History

University of Tokyo Hospital Apr 01 1970 - Mar 31 1976

Japan

PHD :: Molecular Neurology

Publications

Shoji Tsuji
Ataxias in Brazil. Arquivos de neuro-psiquiatria 82 (8) (2024)
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, null null, Tatsushi Toda, Shoji Tsuji
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics (2024)
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, null null, Tatsushi Toda, Shoji Tsuji
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics (2024)
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, null null, Tatsushi Toda, Shoji Tsuji
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics (2024)
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, null null, Tatsushi Toda, Shoji Tsuji
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics (2024)
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. Journal of human genetics (2023)
Dan Li, Yoshikazu Johmura, Satoru Morimoto, Miyuki Doi, Keiko Nakanishi, Manabu Ozawa, Yuji Tsunekawa, Akane Inoue-Yamauchi, Hiroya Naruse, Takashi Matsukawa, Yukio Takeshita, Naoki Suzuki, Masashi Aoki, Ayumi Nishiyama, Xin Zeng, Chieko Konishi, Narumi Suzuki, Atsuya Nishiyama, Alexander Stephen Harris, Mariko Morita, Kiyoshi Yamaguchi, Yoichi Furukawa, Kenta Nakai, Shoji Tsuji, Satoshi Yamazaki, Yuji Yamanashi, Shoichi Shimada, Takashi Okada, Hideyuki Okano, Tatsushi Toda, Makoto Nakanishi
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits. Nature aging (2023)
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. Journal of human genetics 68 (3) (2023)
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. Journal of human genetics 68 (3) (2023)
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. Journal of human genetics 68 (3) (2023)
Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability. Epilepsia (2023)
Takanori Hata, Haitian Nan, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
A clinical and genetic study of SPG31 in Japan. Journal of human genetics 67 (7) (2022)
Masahiro Ando, Yujiro Higuchi, Yuji Okamoto, Jun-Hui Yuan, Akiko Yoshimura, Jun Takei, Takaki Taniguchi, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Hiroto Nakagawa, Ken Sonoda, Toru Yamashita, Akiko Tamura, Hideo Terasawa, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. Journal of human genetics 67 (7) (2022)
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, null null, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian S Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo Maria Santorelli, Mustafa Sahin, C Shan Xu, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain : a journal of neurology (2022)
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
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease. Cerebellum (London, England) (2022)
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Nozomu Matsuda, Mamoru Yamamoto, Eisuke Dohi, Makoto Takahashi, Masanao Yoshino, Taichi Nomura, Masaaki Matsushima, Ichiro Yabe, Yui Sanpei, Hiroyuki Ishiura, Jun Mitsui, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments. Journal of human genetics 67 (6) (2022)
Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. BMC neurology 21 (1) (2021)
Kishin Koh, Mai Tsuchiya, Hiroyuki Ishiura, Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, Shoji Tsuji, Yoshihisa Takiyama, null null
Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia. Journal of human genetics (2021)
Satoshi Ishihara, Yuji Okamoto, Hajime Tanabe, Akiko Yoshimura, Yujiro Higuchi, Jun-Hui Yuan, Akihiro Hashiguchi, Hiroyuki Ishiura, Jun Mitsui, Shugo Suwazono, Yasushi Oya, Masayuki Sasaki, Masanori Nakagawa, Shoji Tsuji, Yusuke Ohya, Hiroshi Takashima
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. Journal of the peripheral nervous system : JPNS 25 (2) (2020)
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Jun Goto, Tatsushi Toda, Shoji Tsuji
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. Journal of human genetics 66 (3) (2020)
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Kaori Sakuishi, Kiyotaka Nakamagoe, Zenshi Miyake, Akira Tamaoka, Jun Goto, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Tatsushi Toda, Shoji Tsuji
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Neurogenetics 22 (1) (2020)
Yuka Shibata, Masaaki Matsushima, Takashi Matsukawa, Hiroyuki Ishiura, Shoji Tsuji, Ichiro Yabe
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. Journal of human genetics 66 (5) (2020)
Haitian Nan, Yuta Ichinose, Masaki Tanaka, Kishin Koh, Hiroyuki Ishiura, Jun Mitsui, Heisuke Mizukami, Masafumi Morimoto, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. Journal of human genetics 64 (11) (2019)
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui, Yuji Takahashi, Yaeko Ichikawa, Tatsuo Mano, Atsushi Iwata, Yasuo Harigaya, Miho Kawabe Matsukawa, Takashi Matsukawa, Masaki Tanaka, Yuichiro Shirota, Ryo Ohtomo, Hisatomo Kowa, Hidetoshi Date, Aki Mitsue, Hiroyuki Hatsuta, Satoru Morimoto, Shigeo Murayama, Yasushi Shiio, Yuko Saito, Akihiko Mitsutake, Mizuho Kawai, Takuya Sasaki, Yusuke Sugiyama, Masashi Hamada, Gaku Ohtomo, Yasuo Terao, Yoshihiko Nakazato, Akitoshi Takeda, Yoshio Sakiyama, Yumi Umeda-Kameyama, Jun Shinmi, Katsuhisa Ogata, Yutaka Kohno, Shen-Yang Lim, Ai Huey Tan, Jun Shimizu, Jun Goto, Ichizo Nishino, Tatsushi Toda, Shinichi Morishita, Shoji Tsuji
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature genetics 51 (8) (2019)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)
Shin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, Yuhei Ninomiya, Hisaka Kurita, Masatoshi Inden, Megumi Yamada, Yuichi Hayashi, Takashi Inuzuka, Jun Mitsui, Hiroyuki Ishiura, Atsushi Iwata, Hiroto Fujigasaki, Hisamitsu Tamaki, Ryusei Tamaki, Shinsuke Kito, Yoshiharu Taguchi, Kortaro Tanaka, Naoki Atsuta, Gen Sobue, Takayuki Kondo, Haruhisa Inoue, Shoji Tsuji, Isao Hozumi
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells. Scientific reports 9 (1) (2019)
Taro Bannai, Tatsuo Mano, Xigui Chen, Gaku Ohtomo, Ryo Ohtomo, Takeyuki Tsuchida, Kagari Koshi-Mano, Tadafumi Hashimoto, Hitoshi Okazawa, Takeshi Iwatsubo, Shoji Tsuji, Tatsushi Toda, Atsushi Iwata
Chronic cerebral hypoperfusion shifts the equilibrium of amyloid β oligomers to aggregation-prone species with higher molecular weight. Scientific reports 9 (1) (2019)
Yaeko Ichikawa, Masaki Tanaka, Eriko Kurita, Masanori Nakajima, Masaki Tanaka, Chizuko Oishi, Jun Goto, Shoji Tsuji, Atsuro Chiba
Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism. Human genome variation 6 (2019)
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki, Sumio Sugano, Wei Qu, Kazuki Ichikawa, Hideaki Yurino, Koichiro Higasa, Shota Shibata, Aki Mitsue, Masaki Tanaka, Yaeko Ichikawa, Yuji Takahashi, Hidetoshi Date, Takashi Matsukawa, Junko Kanda, Fumiko Kusunoki Nakamoto, Mana Higashihara, Koji Abe, Ryoko Koike, Mutsuo Sasagawa, Yasuko Kuroha, Naoya Hasegawa, Norio Kanesawa, Takayuki Kondo, Takefumi Hitomi, Masayoshi Tada, Hiroki Takano, Yutaka Saito, Kazuhiro Sanpei, Osamu Onodera, Masatoyo Nishizawa, Masayuki Nakamura, Takeshi Yasuda, Yoshio Sakiyama, Mieko Otsuka, Akira Ueki, Ken-Ichi Kaida, Jun Shimizu, Ritsuko Hanajima, Toshihiro Hayashi, Yasuo Terao, Satomi Inomata-Terada, Masashi Hamada, Yuichiro Shirota, Akatsuki Kubota, Yoshikazu Ugawa, Kishin Koh, Yoshihisa Takiyama, Natsumi Ohsawa-Yoshida, Shoichi Ishiura, Ryo Yamasaki, Akira Tamaoka, Hiroshi Akiyama, Taisuke Otsuki, Akira Sano, Akio Ikeda, Jun Goto, Shinichi Morishita, Shoji Tsuji
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nature genetics 50 (4) (2018)
Kishin Koh, Hiroyuki Ishiura, Minako Beppu, Haruo Shimazaki, Yuta Ichinose, Jun Mitsui, Satoshi Kuwabara, Shoji Tsuji, Yoshihisa Takiyama, null null
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. Journal of human genetics 63 (9) (2018)
Kishin Koh, Yuta Ichinose, Hiroyuki Ishiura, Haitian Nan, Jun Mitsui, Junya Takahashi, Wakiro Sato, Yoshiaki Itoh, Kyoko Hoshino, Shoji Tsuji, Yoshihisa Takiyama, null null
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. Journal of human genetics 64 (1) (2018)
Takuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, Masashi Aoki, Takehiko Inui, Yukimune Okubo, Ryo Sato, Noriko Togashi, Hiroshi Takashima, Hiroyuki Ishiura, Shoji Tsuji, Kishin Koh, Yoshihisa Takiyama, Kazuhiro Haginoya
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. Journal of human genetics 64 (2) (2018)
Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano
The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy. Scientific reports 8 (1) (2018)
Tomohiro Udagawa, Yutaka Harita, Kenichiro Miura, Jun Mitsui, Koji L Ode, Shinichi Morishita, Seiya Urae, Shoichiro Kanda, Yuko Kajiho, Haruko Tsurumi, Hiroki R Ueda, Shoji Tsuji, Akihiko Saito, Akira Oka
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. Scientific reports 8 (1) (2018)
Nobuko Yamaguchi, Sonoko Misawa, Yasunori Sato, Kengo Nagashima, Kanako Katayama, Yukari Sekiguchi, Yuta Iwai, Hiroshi Amino, Tomoki Suichi, Takanori Yokota, Yoichiro Nishida, Nobuo Kohara, Koichi Hirata, Kazutoshi Nishiyama, Ichiro Yabe, Ken-Ichi Kaida, Norihiro Suzuki, Hiroyuki Nodera, Shoji Tsuji, Haruki Koike, Jun-Ichi Kira, Hideki Hanaoka, Susumu Kusunoki, Satoshi Kuwabara, null null
A Prospective, Multicenter, Randomized Phase II Study to Evaluate the Efficacy and Safety of Eculizumab in Patients with Guillain-Barré Syndrome (GBS): Protocol of Japanese Eculizumab Trial for GBS (JET-GBS). JMIR research protocols 5 (4) (2016)

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Publication Activity (10 Years)

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Shoji Tsuji