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Akiko Yoshimura

12PUBLICATIONS
32CO-AUTHORS
Neurology and neuromuscular diseasesMedical mycologyMedical infection agents (incl. prions)NeurogeneticsFrench language
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Journal

Publications (12)

Sort by Publication Date:
|Oct 30, 2025
Frameshift and Copy Number Variants in <i>SACS</i>-Related Neuropathy.

Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando

|Oct 01, 2025
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan

|Sep 23, 2025
INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.

Chikashi Yano, Masahiro Ando, Yujiro Higuchi

|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

|Feb 11, 2025
SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.

Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan

|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

Pageof 2

Frequent Collaborators

10 joint publications

Junhui Yuan

10 joint publications

Masahiro Ando

8 joint publications

Hiroshi Takashima

7 joint publications

Takahiro Hobara

7 joint publications

Yujiro Higuchi

7 joint publications

Yu Hiramatsu

7 joint publications

Satoshi Nozuma

6 joint publications

Yusuke Sakiyama

6 joint publications

Fumikazu Kojima

5 joint publications

Tomonori Nakamura

Frequent Collaborators

10 joint publications

Junhui Yuan

10 joint publications

Masahiro Ando

8 joint publications

Hiroshi Takashima

7 joint publications

Takahiro Hobara

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