Masaaki Matsushima (M Matsushima)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Topics

Multiple Myeloma

Cerebrospinal Fluid

Diffusion Weighted

Top Venues

Journal of human genetics

Journal of neurology, neurosurgery, and psychiatry

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

European journal of neurology

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

Publications

Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto
Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese. Journal of neurology, neurosurgery, and psychiatry (2024)
Megumi Abe, Hiroaki Yaguchi, Akihiko Kudo, Azusa Nagai, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Naoko Nakamura, Kenji Isahaya, Yoshihisa Yamano, Shinji Ashida, Takashi Kasai, Keiko Tanaka, Masashi Watanabe, Takeshi Kondo, Hidehisa Takahashi, Shigetsugu Hatakeyama, Akira Takekoshi, Akio Kimura, Takayoshi Shimohata, Ichiro Yabe
Sez6l2 autoimmunity in a large cohort study. Journal of neurology, neurosurgery, and psychiatry (2023)
Keiichi Mizushima, Yuka Shibata, Shinichi Shirai, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan. Journal of human genetics (2023)
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)
Kosuke Iwami, Kazuo Nakamichi, Masaaki Matsushima, Azusa Nagai, Shinichi Shirai, Sho Nakakubo, Ikuko Takahashi-Iwata, Masafumi Yamada, Ichiro Yabe
Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid. Journal of neurovirology (2021)
Taichi Nomura, Ikuko Iwata, Ryoji Naganuma, Masaaki Matsushima, Katsuya Satoh, Tetsuyuki Kitamoto, Ichiro Yabe
A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset. Prion 14 (1) (2021)
Masaaki Matsushima, Ichiro Yabe, Ken Sakushima, Yasuhiro Kanatani, Naoki Nishimoto, Takeshi Matsuoka, Jun Sawada, Haruo Uesugi, Kazuya Sako, Asako Takei, Akiko Tamakoshi, Shun Shimohama, Norihiro Sato, Seiji Kikuchi, Hidenao Sasaki
Multiple system atrophy in Hokkaido, Japan: a prospective registry study of natural history and symptom assessment scales followed for 5 years. BMJ open 11 (2) (2021)
Ryoji Naganuma, Ichiro Yabe, Megumi Takeuchi, Kirari Morishita, Shingo Nakane, Ryoken Takase, Ikuko Takahashi-Iwata, Masaaki Matsushima, Mika Otsuki, Hideaki Shiraishi, Hidenao Sasaki
Clinical factors affecting evoked magnetic fields in patients with Parkinson's disease. PloS one 15 (9) (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)
Yuka Shibata, Ichiro Yabe, Masaaki Matsushima, Naoki Hashimoto, Takahiro Yamada, Hidenao Sasaki
Investigating the role of genetic counseling in neuromuscular disease considering life events. Journal of human genetics 64 (6) (2019)
Yuka Shibata, Masaaki Matsushima, Ichiro Yabe, Koichiro Matsuda, Azusa Nagai, Takahiro Kano, Takahiro Yamada, Yoshiki Sekijima, Hidenao Sasaki
Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 24 (1) (2017)
Masahiro Ando, Y Okamoto, A Yoshimura, J-H Yuan, Y Hiramatsu, Y Higuchi, A Hashiguchi, J Mitsui, H Ishiura, S Fukumura, Masaaki Matsushima, N Ochi, J Tsugawa, S Morishita, S Tsuji, H Takashima
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. European journal of neurology 24 (10) (2017)
Masaaki Matsushima, Ichiro Yabe, Ikuko Takahashi, Makoto Hirotani, Takahiro Kano, Kazuhiro Horiuchi, Hideki Houzen, Hidenao Sasaki
Validity and reliability of a pilot scale for assessment of multiple system atrophy symptoms. Cerebellum & ataxias 4 (2017)