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Akihiro Hashiguchi

5PUBLICATIONS
29CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsFrench languageCancer genetics
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Journal

Publications (5)

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|Jul 16, 2025
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

|Jan 29, 2024
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Fumikazu Kojima, Yuji Okamoto, Masahiro Ando

|Nov 02, 2023
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

Masahiro Ando, Yujiro Higuchi, Junhui Yuan

|Sep 26, 2023
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima

|Feb 29, 2020
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Satoshi Ishihara, Yuji Okamoto, Hajime Tanabe

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Frequent Collaborators

4 joint publications

Hiroshi Takashima

4 joint publications

Yujiro Higuchi

4 joint publications

Masahiro Ando

4 joint publications

Akiko Yoshimura

3 joint publications

Fumikazu Kojima

3 joint publications

Eiji Matsuura

3 joint publications

Takahiro Hobara

3 joint publications

Satoshi Nozuma

3 joint publications

Junhui Yuan

3 joint publications

Yu Hiramatsu

Frequent Collaborators

4 joint publications

Hiroshi Takashima

4 joint publications

Yujiro Higuchi

4 joint publications

Masahiro Ando

4 joint publications

Akiko Yoshimura

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