Matsumoto Hiroshi 松本浩

Researcher Number	00536229
Other IDs
Affiliation (Current)	2025: 埼玉医科大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2022 – 2025: 埼玉医科大学, 医学部, 准教授 2019 – 2024: 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究施設、病院並びに防衛, 小児科学, 講師
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields
Keywords	Principal Investigator ミトファジー / 神経細胞 / ミトコンドリア / DNM1L / iPS細胞 / 活動電位 / 細胞外フラックスアナライザー / ATP産生 / mitophagy / ミトコンドリア膜電位 / DNM1L変異 / Leigh症候群 … More Except Principal Investigator … More 心筋症 / シングルセル / ヘテロプラスミー率 / ミトコンドリアDNA / オミックス解析 / ゲノム解析 / マルチオミックス解析 / メタボローム解析 / ヘテロプラスミー / シングルセル解析 / 多階層オミックス統合解析 / ミトコンドリア病 / iPS細胞 / 小児 / ミトコンドリア / DNM1L / 先天異常学 / 小児神経学 / 遺伝・先天異常学 / 神経分子病態学 Less

Establishment of multi-layered omics analysis for mitochondrial disease patients
- Principal Investigator
  
  岡崎康司
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Juntendo University
Analysis of mitochondrial function and cell action potential in iPS-derived neurons with DNM1L mutationPrincipal Investigator
- Principal Investigator
  
  松本浩
- Project Period (FY)
  2022 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Saitama Medical University
Elucidation of the pathogenesis of cardiomyopathy caused by DNM1-L mutations and its application to novel therapeutic methods
- Principal Investigator
  
  Osawa Madori
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Defense Medical College
Research to elucidate the neurodegenerative disease in Chediak Higashi syndrome caused by LYST mutation
- Principal Investigator
  
  野々山恵章
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Defense Medical College
Elucidation of mechanism of Leigh syndrome caused by impaired mitochondrial division using iPS cellsPrincipal Investigator
- Principal Investigator
  
  Matsumoto Hiroshi
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Defense Medical College

All 2025 2024 2023 2022 2021 2020 2019

All Journal Article Presentation

[Journal Article] Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.2024
- Author(s)
  Sasaki M, Okanishi T, Matsuoka T, Yoshimura A, Maruyama S, Shiohama T, Hoshino H, Mori T, Majima H, Matsumoto H, Kobayashi S, Chiyonobu T, Matsushige T, Nakamura K, Kubota K, Tanaka R, Fujita T, Enoki H, Suzuki Y, Nakamura S, Fujimoto A, Maegaki Y.
- Journal Title
  
  Pediatr Neurology
  
  Volume: 157 Pages: 29-38
- DOI
  10.1016/j.pediatrneurol.2024.05.007
- Data Source
  KAKENHI-PROJECT-22K07926
[Journal Article] Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus2023
- Author(s)
  Uematsu Kenji、Matsumoto Hiroshi、Zaha Kiyotaka、Mizuguchi Masashi、Nonoyama Shigeaki
- Journal Title
  
  Brain and Development
  
  Volume: 45 Issue: 2 Pages: 93-101
- DOI
  10.1016/j.braindev.2022.10.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07926
[Journal Article] HPeV3-associated acute encephalitis/encephalopathy among Japanese infants2021
- Author(s)
  Abe Yuichi、Ohno Takuro、Matsumoto Hiroshi、Daimon Yusuke、Kurahashi Hirokazu、Takayama Rumiko、Sakaguchi Yuri、Tanabe Saori、Tanaka Fumiko、Miyamoto Yusaku、Kawano Akiko、Yamanouchi Hideo
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 4 Pages: 528-537
- DOI
  10.1016/j.braindev.2020.12.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K08241
[Journal Article] Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia2021
- Author(s)
  Kato Tamaki、Tamura Yoshiteru、Matsumoto Hiroshi、Kobayashi Osamu、Ishiguro Hideaki、Ogawa Masaya、Tsujikawa Koyo、Hasegawa Yasuhiro、Sakamoto Mitsuhiro、Konagaya Masaaki、Houzen Hideki、Takagi Masatoshi、Imai Kohsuke、Morio Tomohiro、Yokoseki Akio、Onodera Osamu、Nonoyama Shigeaki
- Journal Title
  
  Clinical Immunology
  
  Volume: 229 Pages: 108776-108776
- DOI
  10.1016/j.clim.2021.108776
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20H03652
[Journal Article] Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening2021
- Author(s)
  Hamabe Fumiko、Edo Hiromi、Yamashita Taro、Matsumoto Hiroshi、Tamada Soichiro、Sumi Koji、Shinmoto Hiroshi
- Journal Title
  
  BJR|case reports
  
  Volume: 7 Issue: 2 Pages: 20200155-20200155
- DOI
  10.1259/bjrcr.20200155
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08289
[Journal Article] Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome2021
- Author(s)
  Hagiwara Hidetoshi、Matsumoto Hiroshi、Uematsu Kenji、Zaha Kiyotaka、Sekinaka Yujin、Miyake Noriko、Matsumoto Naomichi、Nonoyama Shigeaki
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 2 Pages: 337-342
- DOI
  10.1016/j.braindev.2020.09.007
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-19K08289
[Journal Article] DNA ligase IV deficiency identified by chance following vaccine-derived rubella virus infection.2020
- Author(s)
  Matsumoto K, Hoshino A, Nishimura A, Kato T, Mori Y, Shimomura M, Naito C, Watanabe K, Hamazaki M, Mitsuiki N, Takagi M, Imai K, Nonoyama S, Kanegane H, Morio T.
- Journal Title
  
  J Clin Immunol.
  
  Volume: 40 Issue: 8 Pages: 1187-1190
- DOI
  10.1007/s10875-020-00831-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-18K07814
[Journal Article] Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion2020
- Author(s)
  Shibata Akiko、Kasai Mariko、Terashima Hiroshi、Hoshino Ai、Miyagawa Taku、Kikuchi Kenjiro、Ishii Atsushi、Matsumoto Hiroshi、Kubota Masaya、Hirose Shinichi、Oka Akira、Mizuguchi Masashi
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 414 Pages: 116808-116808
- DOI
  10.1016/j.jns.2020.116808
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651
[Journal Article] New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review2020
- Author(s)
  Takajo Daiji、Matsumoto Hiroshi、Noguchi Takahiro、Nishimura Naoto、Nonoyama Shigeaki
- Journal Title
  
  Iranian Journal of Pediatrics
  
  Volume: 30 Issue: 2
- DOI
  10.5812/ijp.98996
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289
[Journal Article] Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy2019
- Author(s)
  Shibata Akiko、Kasai Mariko、Hoshino Ai、Miyagawa Taku、Matsumoto Hiroshi、Yamanaka Gaku、Kikuchi Kenjiro、Kuki Ichiro、Kumakura Akira、Hara Shinya、Shiihara Takashi、Yamazaki Sawako、Ohta Masayasu、Yamagata Takanori、Takanashi Jun-ichi、Kubota Masaya、Oka Akira、Mizuguchi Masashi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 10 Pages: 862-869
- DOI
  10.1016/j.braindev.2019.07.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-18K15700, KAKENHI-PROJECT-16K10000
[Journal Article] Epstein-Barr virusを先行感染とする重症Guillain-Barre症候群の1例2019
- Author(s)
  横山　光紀、松本　浩、座波　清誉、東原　拓也、中川　慶一、海田　賢一、野々山　恵章
- Journal Title
  
  脳と発達
  
  Volume: 51 Pages: 249-253
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289
[Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019
- Author(s)
  Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
- Journal Title
  
  Annals of Neurology
  
  Volume: － Issue: 6 Pages: 927-933
- DOI
  10.1002/ana.25481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19281, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-17H01539
[Journal Article] MRI拡散強調像で皮質主体の病変を示した抗MOG抗体陽性の急性散在性脳脊髄炎の1例.2019
- Author(s)
  西村　直人，松本　浩，本田　護，植松　賢司，座波　清誉，中村　康子，野々山　恵章
- Journal Title
  
  脳と発達
  
  Volume: 51 Pages: 318-322
- NAID
  130007734359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 小児期発症MELAS患者の成人診療科へのトランジションについて2025
- Author(s)
  松本　浩、味原さや香、大竹　明
- Organizer
  第5回武蔵野ミトコンドリア病研究会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] Identification of intronic variants in NDUFA3 as a cause of Leigh syndrome by multi-omics analysis2024
- Author(s)
  Kohta Nakamura, Yoshihito Kishita,Ayumu Sugiura ,Atsuko Imai-Okazaki, Kokoro Ozaki, Yukiko Yatsuka, Naoyuki Matsumoto, Hiroshi Matsumoto, Akira Ohtake, Kei Murayama, Yuichi Shiraishi, Yasushi Okazaki.
- Organizer
  第23回日本ミトコンドリア学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] Developmental and epileptic encephalopathy caused by a novel ATP2B2 protein-truncating variant2024
- Author(s)
  Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
- Organizer
  第69回人類遺伝学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] Haemophilus influenzae type fによる細菌性髄膜炎を発症した10か月男児の1例2024
- Author(s)
  藤田祐也, 森谷邦彦, 北澤泰地, 馬渕春菜, 鈴木秀一 , 藤倉雄二, 松本浩, 今井耕輔
- Organizer
  第127回日本小児科学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] 小児視神経炎の5例2023
- Author(s)
  寺西宏美、平井　純、渡邊諒子、大滝里美、浦丸知子、野々宮瑞紀、遠藤琢也、飛田和えりか、颯佐かおり、古賀健史、松本　浩、山内秀雄、秋岡祐子
- Organizer
  第194回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] 遺伝子変異を認めた新生児けいれん10例の検討2023
- Author(s)
  大滝里美、颯佐かおり、寺西宏美、櫻井隼人、筧紘子、國方徹也、石井敦士、加藤光広、松本浩、山内秀雄
- Organizer
  第56回日本てんかん学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] COVID-19オミクロン株による小児熱性けいれん患者の臨床的特徴2023
- Author(s)
  馬渕春菜, 松本浩, 朝比奈優希,　桒原殿, 小倉弘嗣, 萩原秀俊, 鈴木秀一,　浅野貴子, 今井耕輔
- Organizer
  第126回日本小児科学会総会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] Three patients with classical lissencephaly and PAFAH1B1 deletion2023
- Author(s)
  Hiroshi Matsumoto, Hirose Fumi, Hajime Wakamatsu, Eri Takeshita, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Shigeaki Nonoyama
- Organizer
  第68回日本人類遺伝学会・Human Genetics Asia2023
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] 若年型神経セロイドリポフスチン症(NCL3)によるてんかんにおける脳波および抗てんかん薬治療について2023
- Author(s)
  寺西宏美、大滝里美、颯佐かおり、松本浩、竹下絵里、山内秀雄
- Organizer
  第56回日本てんかん学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] 先天性難聴の児にみられた肺炎球菌性髄膜炎の1例2022
- Author(s)
  永井悠太、松本浩、星野柚紀、仁紙千尋、鈴木秀一、浅野貴子、西野桂佑、栗岡隆臣、見越綾子、野々山恵章
- Organizer
  第187回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] 軽度の精神運動発達遅滞と大脳髄鞘化の遅延を示したidic(18)(q21)モザイクの１例2022
- Author(s)
  髙根透　松本浩、浅野貴子、鈴木秀一、橋本悠、馬渕春菜、今井耕輔
- Organizer
  第189回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] マイクロアレイ染色体検査によりPotocki-Lupski症候群と診断した1例2022
- Author(s)
  小倉弘嗣、松本浩、桒原殿、馬渕春菜、仁紙千尋、鈴木秀一、浅野貴子、今井耕輔
- Organizer
  第189回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] けいれん重積型急性脳症を発症したSchaaf-Yang症候群の1例2022
- Author(s)
  仁紙千尋, 西村直人, 松本浩, 植松賢司, 二川弘司, 櫻井淑男, 野々山恵章
- Organizer
  第64回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-22K07926
[Presentation] EPM2Aに新規遺伝子変異を認めたLafora病の1例2021
- Author(s)
  松本浩、植松賢司、座波清誉、竹下絵里、水口剛、松本直通、野々山恵章
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 発熱・けいれん重積で発症する急性脳症の予測2021
- Author(s)
  松本浩、植松賢司、座波清誉、野々山恵章
- Organizer
  第124回日本小児科学会総会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] DNM1L変異による早期乳児てんかん性脳症患者由来iPS細胞から分化誘導した神経細胞におけるミトコンドリア形態の解析2021
- Author(s)
  植松賢司、座波清誉、松本浩、野々山恵章、松本直通、齋藤潤、伊藤正孝、松本志郎、藤田泰典、大澤郁郎
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 脳梗塞を合併したB群連鎖球菌（GBS）による新生児髄膜炎の1例2020
- Author(s)
  澁川尚幸、松本浩、高田幸成、樽谷朋晃、植松賢司、浅野貴子、櫻井　淑男、野々山恵章
- Organizer
  第181回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 播種性血管内凝固を合併した急性脳症の検討2020
- Author(s)
  松本　浩、植松賢司、座波清誉、中村康子、野々山恵章
- Organizer
  第62回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] ヨード欠乏による甲状腺腫および甲状腺機能低下症を生じた重症心身障害児の1例2020
- Author(s)
  仁紙千尋、松本　浩、森田真義、廣瀬　文、萩原秀俊、田中麻須実、植松賢司、座波清誉、中村康子、野々山恵章
- Organizer
  第73回小児神経学会関東地方会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 内閉鎖筋膿瘍の2例2020
- Author(s)
  仁紙千尋、植松賢司　松本　浩、橋本　悠、森田真義、佐藤朋子、西村直人、浅野貴子、野々山恵章
- Organizer
  第123回日本小児科学会総会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 発熱時にけいれん群発を繰り返し、Xq22領域の重複からPCDH19関連てんかんが疑われた1女児例2020
- Author(s)
  植松賢司、松本　浩、座波清誉、本橋裕子、水口　剛、松本直通、野々山恵章
- Organizer
  第62回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] インフルエンザA罹患により突然死様の経過をとったDravet症候群の1例2020
- Author(s)
  松本　浩、西村直人、佐藤朋子、植松賢司、中村康子、浅野貴子、野々山恵章
- Organizer
  第123回日本小児科学会総会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] MOPD typeⅠ患者における免疫不全についての検討2020
- Author(s)
  萩原秀俊，松本浩，關中悠仁，植松賢司，座波清誉，浅野貴子，野々山恵章
- Organizer
  第123回日本小児科学会総会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] けいれん、片麻痺で発症し、MRIで急速進行性の皮質・白質病変を認めた抗MOG抗体関連急性脳炎の１例2019
- Author(s)
  植松賢司、松本浩、辻田由喜、中村康子、野々山恵章、長田秀夫、高橋利幸
- Organizer
  第61回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 非ワクチン血清型15B肺炎球菌による髄膜炎の1例2019
- Author(s)
  橋本　悠、松本　浩、佐藤朋子、西村直人、西本彬乃、森田真義、植松賢司、田村義輝、浅野貴子、野々山恵章
- Organizer
  第176回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] MRI検査が診断、経過観察に有用だった内閉鎖筋膿瘍の１例2019
- Author(s)
  植松賢司、松本浩、橋本悠、佐藤朋子、西村直人、浅野貴子、野々山恵章
- Organizer
  第177回日本小児科学会埼玉地方会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] RNU4ATAC遺伝子変異を認め，microcephalic osteodysplastic primordial dwarfism (MOPD) typeⅠ(Taybi-Linder症候群)と診断した1例2019
- Author(s)
  萩原秀俊、松本　浩、立石昇一朗、植松賢司、座波清誉、浅野貴子、三宅紀子、松本直通、野々山恵章
- Organizer
  第122回日本小児科学会
- Data Source
  KAKENHI-PROJECT-19K08289
[Presentation] 原因不明の先天性疾患に対する網羅的遺伝子検査の有用性2019
- Author(s)
  松本　浩、萩原秀俊、植松賢司、座波清誉、中村康子、野々山恵章
- Organizer
  第122回日本小児科学会
- Data Source
  KAKENHI-PROJECT-19K08289

1. 大澤郁朗 (30343586)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
2. Osawa Madori (40792180)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
3. 野々山恵章 (40280961)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
4. 關中悠仁 (90837238)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 鈴木郁郎 (90516311)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
6. 松本志郎 (70467992)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 岡崎康司 (80280733)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 奥田修二郎 (00512310)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 木下善仁 (20634398)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 村山圭 (50316741)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 大竹明 (00203810)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. NIIHORI Tetsuya

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Matsumoto Hiroshi 松本 浩

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Establishment of multi-layered omics analysis for mitochondrial disease patients

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Analysis of mitochondrial function and cell action potential in iPS-derived neurons with DNM1L mutationPrincipal Investigator

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Elucidation of the pathogenesis of cardiomyopathy caused by DNM1-L mutations and its application to novel therapeutic methods

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Research to elucidate the neurodegenerative disease in Chediak Higashi syndrome caused by LYST mutation

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Elucidation of mechanism of Leigh syndrome caused by impaired mitochondrial division using iPS cellsPrincipal Investigator

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[Journal Article] Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.2024

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[Journal Article] Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus2023

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[Journal Article] HPeV3-associated acute encephalitis/encephalopathy among Japanese infants2021

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[Journal Article] Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia2021

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[Journal Article] Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening2021

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[Journal Article] Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome2021

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[Journal Article] DNA ligase IV deficiency identified by chance following vaccine-derived rubella virus infection.2020

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[Journal Article] Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion2020

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[Journal Article] New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review2020

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[Journal Article] Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy2019

Matsumoto Hiroshi 松本浩