Akiko Yoshimura (A Yoshimura)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 9

Top Topics

Intellectual Disability

Top Venues

Journal of the peripheral nervous system : JPNS

Clinical genetics

Journal of neurology

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

Publications

Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. Neurogenetics (2024)
Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. Neurogenetics 25 (2) (2024)
Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. Neurogenetics 25 (2) (2024)
Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Yu Hiramatsu, Satoshi Nozuma, Shinobu Fukumura, Hiroyuki Yahikozawa, Erika Abe, Itaru Toyoshima, Masashiro Sugawara, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum. Journal of neurology (2023)
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yuki Yamanishi, Yasuhiro Aso, Kotaro Izumi, Minako Imada, Yoshimitsu Maki, Hiroto Nakagawa, Takahiro Hobara, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. Annals of clinical and translational neurology (2023)
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. Clinical genetics 99 (3) (2020)
Hajime Tanabe, Yujiro Higuchi, Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Satoshi Ishihara, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Hiroyuki Ishiura, Jun Mitsui, Ryotaro Takashima, Norito Kokubun, Kengo Maeda, Yuri Asano, Yoko Sunami, Yu Kono, Yasunori Ishigaki, Shosaburo Yanamoto, Jiro Fukae, Hiroshi Kida, Mitsuya Morita, Shoji Tsuji, Hiroshi Takashima
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. Journal of the peripheral nervous system : JPNS 23 (1) (2018)
Jun-Hui Yuan, A Hashiguchi, Akiko Yoshimura, N Sakai, M P Takahashi, T Ueda, A Taniguchi, S Okamoto, N Kanazawa, Y Yamamoto, K Saigoh, S Kusunoki, M Ando, Y Hiramatsu, Y Okamoto, H Takashima
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. Clinical genetics 92 (6) (2017)
Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Jun-Hui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. Journal of the peripheral nervous system : JPNS 22 (3) (2017)