Publications by authors named "Akiko Yoshimura"

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Frameshift and Copy Number Variants in -Related Neuropathy.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Yu Hiramatsu, Akiko Yoshimura

Neurol Genet· December 2025

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Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura

J Hum Genet· December 2025

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Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy.
Chikashi Yano, Tomonori Nakamura, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura

Clin Neurophysiol Pract· November 2025

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INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura

Ann Clin Transl Neurol· September 2025

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Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Chikashi Yano

Ann Clin Transl Neurol· September 2025

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Systemic mitochondrial involvement in mitochondrial myopathy with episodic hyper-creatine kinase-emia: insights from an autopsy case.
Risa Nagatomo, Yu Hiramatsu, Yusuke Sakiyama, Hiroaki Miyahara, Takuma Nasu, Akiko Yoshimura

J Neurol· August 2025

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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, Jun-Hui Yuan, Akiko Yoshimura

J Neurol· July 2025

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Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis.
Yusuke Sakiyama, Jun-Hui Yuan, Akiko Yoshimura, Mika Takeuchi, Yoshimitsu Maki

Brain Commun· April 2025

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SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Chikashi Yano

J Neurol· February 2025

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Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.
Takahiro Hobara, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura

J Neurol Neurosurg Psychiatry· January 2025

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Respiratory Effects of Benzodiazepine in Patients with Advanced-Stage Cancer Receiving Opioid Analgesics: A Prospective Observational Study.
Akiko Yoshimura, Natsuko Nozaki-Taguchi, Dai Suganuma, Yoshihiko Sakashita, Masami Fujisato

Palliat Med Rep· September 2024

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Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Akiko Yoshimura

Acta Neuropathol Commun· August 2024

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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, Yujiro Higuchi, Takahiro Hobara, Akiko Yoshimura

Neurogenetics· April 2024

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Geographic characteristics of HTLV-1 molecular subgroups and genetic substitutions in East Asia: Insights from complete genome sequencing of HTLV-1 strains isolated in Taiwan and Japan.
Satoshi Nozuma, Akiko Yoshimura, Shun-Chung Pai, Hung-Jen Chen, Eiji Matsuura

PLoS Negl Trop Dis· February 2024

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Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Junhui Yuan, Akihiro Hashiguchi, Akiko Yoshimura

J Neurol· January 2024

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Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Fumikazu Kojima

Ann Clin Transl Neurol· January 2024

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Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Jun-Hui Yuan, Xiaoyang Cheng, Eiji Matsuura, Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura

J Peripher Nerv Syst· December 2023

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Clinical phenotypic diversity of -related disease in the largest case series of inherited peripheral neuropathy in Japan.
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Mika Dozono

J Neurol Neurosurg Psychiatry· August 2023

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Microbleed clustering in thalamus sign in CADASIL patients with R75P mutation.
Jun Takei, Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Jun-Hui Yuan

Front Neurol· August 2023

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Identification and tracking of HTLV-1-infected T cell clones in virus-associated neurologic disease.
Satoshi Nozuma, Eiji Matsuura, Masakazu Tanaka, Daisuke Kodama, Toshio Matsuzaki, Akiko Yoshimura

JCI Insight· April 2023

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Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura

Front Neurol· January 2023

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Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura

J Neurol· December 2022

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Genetic and clinical features of cerebellar ataxia with biallelic repeat expansions in Japan.
Masahiro Ando, Yujiro Higuchi, Junhui H Yuan, Akiko Yoshimura, Shuntaro Higashi

Front Neurol· August 2022

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Multi-type repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura

Front Neurol· August 2022

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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi

Biomedicines· June 2022

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