Organization
Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area Graduate School of Medical and Dental Sciences Advanced Therapeutics Course Neurology Lecturer
Title
Lecturer
HIGUCHI Yujiro
Degree
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博士（医学） ( 2016.8 鹿児島大学 )
Research Interests
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シャルコー・マリー・トゥース病（Charcot-Marie-Tooth disease: CMT）
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遺伝性ニューロパチー
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ミトコンドリア病
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脊髄小脳変性症
Research History
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Kagoshima University Medical and Dental Hospital, Medical and Dental Sciences Area Medical and Dental Hospital Clinical Center Neurology Disease Center Assistant Professor
2020.4
Professional Memberships
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日本神経治療学会
2020.4
Papers
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Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima . Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications . Acta Neuropathologica Communications23 ( 12 ) 2024.8Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implicationsReviewed
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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 . Neurogenetics25 ( 2 ) 149 - 156 2024.4A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature reviewReviewed
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Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Junhui 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 2023.9Dystonia and Parkinsonism in COA7‑related disorders: expanding the phenotypic spectrum.
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Yujiro Higuchi . Genetic research of inherited peripheral neuropathies . Neurol Clin Neurosci 2023.8Genetic research of inherited peripheral neuropathies
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Yujiro Higuchi and Hiroshi Takashima . Clinical genetics of Charcot-Marie-Tooth disease . J Hum Genet 2023.3Clinical genetics of Charcot-Marie-Tooth disease
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Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Satoshi Hakotani, Yuki Koba, Yusuke Sakiyama, Yu Hiramatsu, Yuichi Tashiro, Yoshimitsu Maki, Akihiro Hashiguchi, Junhui Yuan, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima . Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan . Cerebellum 2021.9Reviewed
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Yujiro Higuchi, Hiroshi Takashima . Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy . BRAIN 2018.6Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyReviewed
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Yujiro Higuchi, Hiroshi Takashima . Mutations in MME Cause an Autosomal-Recessive Charcot–Marie–Tooth Disease Type 2 . 2016.8Mutations in MME Cause an Autosomal-Recessive Charcot–Marie–Tooth Disease Type 2Reviewed
Awards
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日本神経学会賞 (学術研究部門)
2022.5 日本神経学会 遺伝性ニューロパチーの遺伝学的研究
Research Projects
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脊髄小脳変性症の臨床疫学と新規原因遺伝子の同定
Grant number：22K07519 2022.4 - 2025.3
科学研究費助成事業（科研費） 日本学術振興会 科学研究費補助金
Authorship：Principal investigator
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我が国で発見された遺伝性ニューロパチーの新規原因遺伝子から探る病態機序の解明
Grant number：20K16604 2020.4 - 2022.3
科学研究費補助金 若手研究(B)