石浦浩之 (Hiroyuki Ishiura) - マイポータル

基本情報

所属: 岡山大学学術研究院医歯薬学域脳神経内科学教授

学位: 博士（医学）(2011年3月東京大学)
学士（医学）(2002年3月東京大学)

J-GLOBAL ID: 201801003007830928
researchmap会員ID: B000308837

研究キーワード

研究分野

ライフサイエンス / 神経内科学 / 神経遺伝学

経歴

2022年11月 - 現在

岡山大学, 学術研究院医歯薬学域脳神経内科学, 教授
2020年4月 - 2022年10月

東京大学, 医学部附属病院脳神経内科, 講師
2012年4月 - 2020年3月

東京大学医学部付属病院, 神経内科, 助教
2010年4月 - 2012年3月

日本学術振興会, 特別研究員
2006年4月 - 2007年3月

国際医療センター, 神経内科, レジデント
2004年6月 - 2006年3月

東京大学医学部付属病院, 神経内科, 医員
2003年6月 - 2004年5月

関東中央病院, 内科, 内科研修医
2002年6月 - 2003年5月

東京大学医学部付属病院, 内科, 内科研修医

学歴

2007年4月 - 2011年3月

東京大学, 大学院医学系研究科
1996年4月 - 2002年3月

東京大学, 医学部医学科

委員歴

2025年5月 - 現在

日本神経学会, 臨床神経学編集副委員長
2023年11月 - 現在

日本神経治療学会, 評議員
2023年4月 - 現在

日本内科学会, 評議員
2021年5月 - 現在

日本神経学会, 代議員
2019年11月 - 現在

日本人類遺伝学会, 評議員
- 現在

日本人類遺伝学会, 臨床遺伝専門医
- 現在

日本神経学会, 専門医、指導医
- 現在

日本内科学会, 総合内科専門医
Human Genome Variation, Associate Editor

受賞

2021年5月

日本神経学会賞, 神経筋疾患における新規リピート伸長病の発見, 日本神経学会
2018年10月

English Presentation Award, Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy, 日本てんかん学会

石浦浩之
2018年10月

奨励賞, 神経疾患の遺伝子解析研究, 日本人類遺伝学会

石浦浩之
2011年10月

Travel Award, Massively parallel sequence analysis reveals the causative gene of posterior column ataxia with retinitis pigmentosa, 日本人類遺伝学会

石浦浩之

主要な論文

226

Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology.

Toru Yamashita, Osamu Yokota, Daiki Ousaka, Hongming Sun, Takashi Haraguchi, Ricardo Satoshi Ota-Elliott, Chika Matsuoka, Tomohito Kawano, Hanae Nakashima-Yasuda, Yusuke Fukui …

Acta neuropathologica 150(1) 19-19 2025年8月13日査読有り最終著者責任著者
Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.

Taijun Yunoki, Chika Matsuoka, Yosuke Osakada, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura

Internal medicine (Tokyo, Japan) 2025年6月5日査読有り最終著者責任著者
Identification of New Repeat Expansion Diseases

Hiroyuki Ishiura

Neurology and Clinical Neuroscience 13(4) 244-249 2025年5月27日査読有り招待有り筆頭著者最終著者責任著者
Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.

Hiroyuki Ishiura

Journal of neuromuscular diseases 22143602251319164-22143602251319164 2025年3月3日査読有り招待有り筆頭著者最終著者責任著者
Long-Term Follow-Up of a Patient With SPG11

Yosuke Osakada, Taijun Yunoki, Chika Matsuoka, Yusuke Fukui, Keiichiro Tsunoda, Kentaro Deguchi, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura

Neurology and Clinical Neuroscience 13(3) 198-200 2025年1月8日査読有り最終著者責任著者
Late-onset MELAS: a case report of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes in a 55-year-old patient

Taira Yuki, Toru Yamashita, Ryuta Morihara, Taijun Yunoki, Chika Matsuoka, Kawano Tomohito, Yusuke Fukui, Hiroyuki Ishiura

Vas-Cog Journal 11 44-47 2025年査読有り最終著者
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.

Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita …

Internal medicine (Tokyo, Japan) 2024年8月1日査読有り責任著者
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, David Pellerin, Francesca Magrinelli, Riccardo Currò, Stefano Facchini, Arianna Tucci, John Hardy, Nutan Sharma …

The Lancet. Neurology 23(7) 725-739 2024年7月査読有り
RFC1-related disorder presenting recurrent syncope.

Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui …

Journal of neurology 271(7) 4635-4638 2024年3月7日査読有り責任著者
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi …

Annals of clinical and translational neurology 11(4) 946-957 2024年2月5日査読有り
Expanded clinical spectrum of oculopharyngodistal myopathy type 1

Takahiro Shimizu, Hiroyuki Ishiura, Manato Hara, Shota Shibata, Atsushi Unuma, Akatsuki Kubota, Kaori Sakuishi, Kiyoharu Inoue, Jun Goto, Yuji Takahashi …

Muscle & Nerve 2022年9月査読有り責任著者
Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease.

Ryo Tokimura, Meiko Hashimoto, Akihiko Mitsutake, Souichi Sakai, Fumio Suzuki, Keiko Sugasawa, Chisato Fujimoto, Hiroyuki Ishiura, Tatsushi Toda

Neurology 98(22) 938-939 2022年3月29日査読有り
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Theerawat Kumutpongpanich, Masashi Ogasawara, Ayami Ozaki, Hiroyuki Ishiura, Shoji Tsuji, Narihiro Minami, Shinichiro Hayashi, Satoru Noguchi, Aritoshi Iida, Ichizo Nishino …

JAMA neurology 78(7) 853-863 2021年7月1日
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Kaori Sakuishi, Kiyotaka Nakamagoe, Zenshi Miyake, Akira Tamaoka, Jun Goto …

Neurogenetics 22(1) 11-17 2021年3月
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Jun Goto, Tatsushi Toda …

Journal of human genetics 66(3) 237-241 2021年3月
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.

Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

BMC neurology 21(1) 64-64 2021年2月11日
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

Junko Kanda Kikuchi, Yu Nagashima, Tatsuo Mano, Hiroyuki Ishiura, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Yaeko Ichikawa, Yuji Takahashi, Shotaro Karino …

Journal of molecular neuroscience : MN 71(9) 1796-1801 2021年1月12日
Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation.

Hiroyuki Ishiura, Shoji Tsuji

Current opinion in genetics & development 65 176-185 2020年12月
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations.

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Tatsushi Toda, Shoji Tsuji

Amyotrophic lateral sclerosis & frontotemporal degeneration 22(7-8) 1-3 2020年9月1日
Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

Shen-Yang Lim, Hiroyuki Ishiura, Norlisah Ramli, Shota Shibata, M Asem Almansour, Ai Huey Tan, Henry Houlden, Anthony E Lang, Shoji Tsuji

Parkinsonism & related disorders 74 25-27 2020年4月8日査読有り
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.

Akiko Uchino, Makiko Nagai, Naomi Kanazawa, Masaaki Ichinoe, Nobuyuki Yanagisawa, Kaori Adachi, Eiji Nanba, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji …

Neuropathology : official journal of the Japanese Society of Neuropathology 40(4) 379-388 2020年3月27日査読有り
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.

Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuji

Internal medicine (Tokyo, Japan) 59(6) 839-842 2020年3月15日査読有り
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui …

Nature genetics 51(8) 1222-1232 2019年8月査読有り
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto …

Journal of neurology, neurosurgery, and psychiatry 90(5) 537-542 2019年5月査読有り
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.

Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji

Neurogenetics 20(2) 65-71 2019年5月査読有り
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Yuta Ichinose, Hiroyuki Ishiura, Masaki Tanaka, Jun Yoshimura, Koichiro Doi, Takako Umeda, Hajime Yamauchi, Mai Tsuchiya, Kishin Koh, Nobuo Yamashiro …

Parkinsonism & related disorders 61 57-63 2019年4月査読有り
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y …

Nature genetics 50(4) 581-590 2018年4月査読有り
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Akiko Ishii, Akira Tamaoka, Keiichi Hokkoku …

NEUROBIOLOGY OF AGING 61 255.e9-255.e16 2018年1月査読有り
Partial duplication of DHH causes minifascicular neuropathy A novel mutation detection of DHH

Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, Jun Mitsui, Hiroya Naruse, Shin-ichi Tokushige, Kazuma Sugie, Genshu Tate, Jun Shimizu, Jun Goto …

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 4(6) 415-421 2017年6月査読有り
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, Hiroyuki Ishiura, Shin-Ichi Tokushige, Yuji Takahashi, Naoko Saito Sato, Fumiko Kusunoki Nakamoto, Yaeko Ichikawa, Yu Nagashima …

Neurology. Genetics 2(1) e48 2016年2月査読有り
Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72

Hiroyuki Ishiura, Shoji Tsuji

JOURNAL OF NEUROGENETICS 29(2-3) 85-94 2015年査読有り
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai …

JOURNAL OF HUMAN GENETICS 59(3) 163-172 2014年3月査読有り
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi …

AMERICAN JOURNAL OF HUMAN GENETICS 93(5) 900-905 2013年11月査読有り
Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Yoko Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi …

NEW ENGLAND JOURNAL OF MEDICINE 369(3) 233-244 2013年7月査読有り
C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, Sohei Yoshida, Tameko Kihira, Yasumasa Kokubo, Shigeki Kuzuhara, Laura P. W. Ranum, Tomoko Tamaoki, Yaeko Ichikawa …

ARCHIVES OF NEUROLOGY 69(9) 1154-1158 2012年9月査読有り
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Naoko Saito, Kazumasa Okada, Sadatoshi Tsuji …

NEUROGENETICS 13(3) 237-243 2012年8月査読有り
The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan …

AMERICAN JOURNAL OF HUMAN GENETICS 91(2) 320-329 2012年8月査読有り
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, Yasuo Nakahara, Budrul Ahsan, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Tetsuo Sakai, Shoji Tsuji

NEUROGENETICS 12(2) 117-121 2011年5月査読有り
TRPM7 Is Not Associated With Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex in the Kii Peninsula of Japan

Kenju Hara, Yasumasa Kokubo, Hiroyuki Ishiura, Yuko Fukuda, Akinori Miyashita, Ryozo Kuwano, Ryogen Sasaki, Jun Goto, Masatoyo Nishizawa, Shigeki Kuzuhara …

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 153B(1) 310-313 2010年1月査読有り
RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB

H. Ishiura, S. Matsuda, M. Higashihara, M. Hasegawa, A. Hida, R. Hanajima, T. Yamamoto, J. Shimizu, J. Dalmau, S. Tsuji

NEUROLOGY 71(23) 1921-1923 2008年12月査読有り
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

Yuji Takahashi, Naomi Seki, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Atsushi Kishino, Osamu Onodera, Masashi Aoki, Nobuyuki Shimozawa, Shigeo Murayama …

ARCHIVES OF NEUROLOGY 65(10) 1326-1332 2008年10月査読有り
Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone

Hiroyuki Ishiura, Masato Morikawa, Masashi Hamada, Takuro Watanabe, Shinichi Kako, Shigeru Chiba, Toru Motokura, Akira Hangaishi, Junji Shibahara, Masaaki Akahane …

ARCHIVES OF NEUROLOGY 65(5) 662-665 2008年5月査読有り