• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Doi Hiroshi  土井 宏

… Alternative Names

DOI Hiroshi  土井 宏

Less
Researcher Number 10326035
Other IDs
  • ORCIDhttps://orcid.org/0000-0001-5807-2523
Affiliation (Current) 2025: 横浜市立大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help 2016 – 2024: 横浜市立大学, 医学部, 准教授
2015: 横浜市立大学, 医学部神経内科, 准教授
2012 – 2015: 横浜市立大学, 医学部, 講師
2010 – 2011: 横浜市立大学, 医学部, 助教
Review Section/Research Field
Principal Investigator
Neurology / Basic Section 52020:Neurology-related / Basic Section 51030:Pathophysiologic neuroscience-related
Except Principal Investigator
Basic Section 52020:Neurology-related / Neurology / Basic Section 59010:Rehabilitation science-related / Basic Section 51030:Pathophysiologic neuroscience-related / Nerve anatomy/Neuropathology / Biological Sciences
Keywords
Principal Investigator
脊髄小脳変性症 / エクソーム / RFC1 / CANVAS / CACNA1G / 光遺伝学 / 疾患修飾療法 / カルシウムチャネル / マウスモデル / 脊髄小脳失調症 … More / calcium channel / mouse model / spinocerebellar ataxia / exome / 次世代シーケンサー / 劣性遺伝 / 常染色体劣性遺伝 … More
Except Principal Investigator
ALS / LOTUS / 神経変性疾患 / 単球系細胞 / 筋萎縮性側索硬化症 / UBQLN2 / ポリグルタミン病 / 全身炎症 / Nogo / マクロファージ / ミクログリア / SALS / FTLD / 神経科学 / 脳神経疾患 / 次世代シーケンサー / シャペロン / aphasia / disconnectome / 原発性進行性失語症 / 失語症 / バーチャルリアリティー / リハビリテーション / 脊髄小脳変性症 / 軸索変性 / Nogo受容体 / 遺伝子治療 / RNA結合タンパク質 / 非膜オルガネラ / 病態解析 / リピート病 / RAN translation / RFC1 / FISH / 病理学的解析 / RNA foci / CANVAS / てんかん / 自己免疫性脳炎 / 辺縁系脳炎 / 扁桃体腫大 / 側頭葉てんかん / DDX17 / DDX5 / Dead box RNA helicase / 孤発性ALS / DEAD box RNA helicase / DEAD box protein / TDP-43 / PIR-B / IL-19 / 神経炎症 / アストロサイト / コンディショナルノックアウト / ノックアウトマウス / 臨床 / 脳・神経 / MRI / 認知機能 / 表情 / 情動 / 記憶 / amimia / Parkinson / 仮面様顔貌 / パーキンソン病 / MATR3 / TDP43 / polyglutamine / matrin3 / 核内封入体 / RNA結合タンパク / PCBP / ターゲットキャプチャー / 白質脳症 / カスタムキャプチャー / 家族性ALS / 病因遺伝子 / 遺伝子診断 / エクソーム解析 Less
  • Research Projects

    (26 results)
  • Research Products

    (162 results)
  • Co-Researchers

    (47 People)
  •  Development of Gene Therapy Targeting LOTUS for ALS

    • Principal Investigator
      田中 章景
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  全身炎症に伴う単球系細胞の異常分化遷移による神経変性疾患の病態進展の機序解明

    • Principal Investigator
      竹内 英之
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      International University of Health and Welfare
  •  Development of a novel biomarker for ALS based on LOTUS, the functional molecule for neural regeneration

    • Principal Investigator
      高橋 慶太
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  新規動物モデル、iPS細胞モデルを用いたCANVASの病態解明Principal Investigator

    • Principal Investigator
      土井 宏
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  脊髄小脳変性症に対する没入型VRを用いた実用性の高いリハビリテーション法の開発

    • Principal Investigator
      上田 直久
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 59010:Rehabilitation science-related
    • Research Institution
      Yokohama City University
  •  Pathophysiological Investigation and Symptom Prediction Modeling of Language Network Disorders in Aphasia using Disconnectome Analysis

    • Principal Investigator
      東山 雄一
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 59010:Rehabilitation science-related
    • Research Institution
      Yokohama City University
  •  UBQLN2・HSC70/HSPA1複合体の機能低下に着目した筋萎縮性側索硬化症の病態解明

    • Principal Investigator
      田中 健一
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Analysis of pathological dynamics of membrane-less organelles in SALS

    • Principal Investigator
      多田 美紀子
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 51030:Pathophysiologic neuroscience-related
    • Research Institution
      Yokohama City University
  •  Development of disease-modifying therapy for spinocerebellar ataxia type 42 and elucidation of pathophysiological basis using optogenetic methodsPrincipal Investigator

    • Principal Investigator
      DOI Hiroshi
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 51030:Pathophysiologic neuroscience-related
    • Research Institution
      Yokohama City University
  •  扁桃体腫大を伴う側頭葉てんかんの病態背景の解明と新規治療法の開発

    • Principal Investigator
      國井 美紗子
    • Project Period (FY)
      2021 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Establishment of a pathophysiological analysis model for novel intronic repeat disease CANVAS

    • Principal Investigator
      Tanaka Fumiaki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Elucidation of the mechanism of neurodegenerative disease progression by systemic inflammation

    • Principal Investigator
      Takeuchi Hideyuki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  DEAD box RNA helicases are involved in sporadic ALS pathology

    • Principal Investigator
      TADA Mikiko
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 51030:Pathophysiologic neuroscience-related
    • Research Institution
      Yokohama City University
  •  Elucidation of pathophysiology and development of treatment for spinocerebellar ataxia using a novel mouse modelPrincipal Investigator

    • Principal Investigator
      DOI Hiroshi
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Analysis of UBQLN2 based on loss of function model

    • Principal Investigator
      TANAKA Kenichi
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Development of novel therapeutic strategy against neurodegenerative diseases by modulation of monocyte-lineage cell

    • Principal Investigator
      TAKEUCHI Hideyuki
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Development of ALS therapy targeting LOTUS, a functional molecule for neuronal regeneration

    • Principal Investigator
      TANAKA Fumiaki
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Yokohama City University
  •  Neural substrates of masked-face in Parkinson disease: A quantitative analysis of facial expression.

    • Principal Investigator
      Yuichi HIGASHIYAMA
    • Project Period (FY)
      2016 – 2017
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Analysis of genetic back ground and pathomechanism of spinocerebellar degenerationPrincipal Investigator

    • Principal Investigator
      DOI Hiroshi
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Analysis of polyglutamine aggregation protein in ALS/FTLD

    • Principal Investigator
      TADA Mikiko
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Nerve anatomy/Neuropathology
    • Research Institution
      Yokohama City University
  •  Analysis of RNA binding proteins in polyglutamine disease

    • Principal Investigator
      TANAKA Fumiaki
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Integrated research of polyglutamine disease and ALS/FTLD by analysis of UBQLN2

    • Principal Investigator
      TANAKA Fumiaki
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Establishment of diagnosis method and analysis of genetic background of adult leukoencephalopathy patients with desktop next-generation sequencer

    • Principal Investigator
      Ueda Naohisa
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Exome analysis of spinocerebellar ataxiasPrincipal Investigator

    • Principal Investigator
      DOI Hiroshi
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University
  •  Exploration of disease-related genes based on personal genome analysis and elucidation of pathogenesis in ALS

    • Principal Investigator
      TANAKA Fumiaki
    • Project Period (FY)
      2010 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Yokohama City University
      Nagoya University
  •  Isolation of causative genes for recessive spinocerebellar ataxiaPrincipal Investigator

    • Principal Investigator
      DOI Hiroshi
    • Project Period (FY)
      2010 – 2011
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Neurology
    • Research Institution
      Yokohama City University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book Patent

  • [Book] 前頭側頭葉変性症療養の手引き 「前頭側頭葉変性症の経過」2017

    • Author(s)
      土井 宏、田中章景
    • Total Pages
      70
    • Publisher
      平成28年度厚生労働科学研究費補助金 難治性疾患等政策研究事業(難治性疾患政策研究事業)「神経変性疾患領域における基盤的調査研究」班
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Book] 内科学書改訂第8版2013

    • Author(s)
      土井 宏、田中章景
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Book] 内科学書改訂第8版、代謝性疾患2013

    • Author(s)
      土井宏、田中章景
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Association of biallelic RFC1 expansion with early‐onset Parkinson's disease2023

    • Author(s)
      Ylikotila Pauli、Sipila Jussi、Alapirtti Tiina、Ahmasalo Riitta、Koshimizu Eriko、Miyatake Satoko、Hurme‐Niiranen Anri、Siitonen Ari、Doi Hiroshi、Tanaka Fumiaki、Matsumoto Naomichi、Majamaa Kari、Kytovuori Laura
    • Journal Title

      European Journal of Neurology

      Volume: 30 Issue: 5 Pages: 1256-1261

    • DOI

      10.1111/ene.15717

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-23K27520
  • [Journal Article] Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)2023

    • Author(s)
      土井宏、田中章景
    • Journal Title

      脳神経内科

      Volume: 99 Pages: 518-526

    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Journal Article] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias2023

    • Author(s)
      Fukuda H., Mizuguchi T., Doi H., Kameyama S., Kunii M., Joki H., Takahashi T., Komiya H., Sasaki M., Miyaji Y., Ohori S., Koshimizu E., Uchiyama Y., Tsuchida N., Fujita A., Hamanaka K., Misawa K., Miyatake S., Tanaka F. and Matsumoto N.
    • Journal Title

      J Hum Genet

      Volume: 68 Issue: 10 Pages: 689-697

    • DOI

      10.1038/s10038-023-01170-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
  • [Journal Article] 【運動失調症の病態と治療】Cerebellar ataxia with neuropathy and vestibular areflexia syndrome(CANVAS)2023

    • Author(s)
      土井 宏, 田中 章景
    • Journal Title

      脳神経内科

      Volume: 99 Pages: 518-526

    • Data Source
      KAKENHI-PROJECT-21K07440
  • [Journal Article] Reduced likelihood of the Poggendorff illusion in cerebellar strokes: a clinical and neuroimaging study2023

    • Author(s)
      Higashiyama Yuichi、Kuroki Miho、Kudo Yosuke、Hamada Tomoya、Morihara Keisuke、Saito Asami、Miyaji Yosuke、Kimura Katsuo、Joki Hideto、Kishida Hitaru、Doi Hiroshi、Ueda Naohisa、Takeuchi Hideyuki、Johkura Ken、Tanaka Fumiaki
    • Journal Title

      Brain Communications

      Volume: 5 Issue: 2

    • DOI

      10.1093/braincomms/fcad053

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K15714, KAKENHI-PROJECT-21K07298
  • [Journal Article] RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers2023

    • Author(s)
      Wada Taishi、Doi Hiroshi, et al.
    • Journal Title

      Annals of Neurology

      Volume: 95 Issue: 3 Pages: 607-613

    • DOI

      10.1002/ana.26848

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-22K15041, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-23K27520
  • [Journal Article] Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice2023

    • Author(s)
      Ikeda Takuya、Takahashi Keita、Higashi Minatsu、Komiya Hiroyasu、Asano Tetsuya、Ogasawara Akihiro、Kubota Shun、Hashiguchi Shunta、Kunii Misako、Tanaka Kenichi、Tada Mikiko、Doi Hiroshi、Takeuchi Hideyuki、Takei Kohtaro、Tanaka Fumiaki
    • Journal Title

      Cell Death Discovery

      Volume: 9 Issue: 1 Pages: 454-454

    • DOI

      10.1038/s41420-023-01758-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07465
  • [Journal Article] Parallel Appearance of Polyglutamine and Transactivation-Responsive DNA-Binding Protein 43 and Their Complementary Subcellular Localization in Brains of Patients With Spinocerebellar Ataxia Type 2.2022

    • Author(s)
      Koyano S, Yagishita S, Tada M, Doi H, Uchihara T, Tanaka F
    • Journal Title

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

      Volume: - Issue: 7 Pages: 535-544

    • DOI

      10.1093/jnen/nlac032

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H03555, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440
  • [Journal Article] Anti-inflammatory effects of siponimod on astrocytes2022

    • Author(s)
      Akihiro Ogasawara, ・・Hiroshi Doi, Fumiaki Tanaka
    • Journal Title

      Neuroscience Research

      Volume: 184 Pages: 38-46

    • DOI

      10.1016/j.neures.2022.08.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07465
  • [Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022

    • Author(s)
      Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
    • Journal Title

      npj Genomic Medicine

      Volume: 7 Issue: 1 Pages: 62-62

    • DOI

      10.1038/s41525-022-00331-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
  • [Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype2022

    • Author(s)
      Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
    • Journal Title

      Genomics

      Volume: 114 Issue: 5 Pages: 110469-110469

    • DOI

      10.1016/j.ygeno.2022.110469

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
  • [Journal Article] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome2022

    • Author(s)
      Miyatake S, Yoshida K, Koshimizu E, others, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N.
    • Journal Title

      Brain

      Volume: 145 Issue: 3 Pages: 1139-1150

    • DOI

      10.1093/brain/awab363

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K24308
  • [Journal Article] Inhibition of Crmp1 phosphorylation at Ser522 ameliorates motor function and neuronal pathology in amyotrophic lateral sclerosis model mice2022

    • Author(s)
      Asano Tetsuya、Nakamura Haruko、Kawamoto Yuko、Tada Mikiko、Kimura Yayoi、Takano Hiroshi、Yao Ryoji、Saito Hiroya、Ikeda Takuya、Komiya Hiroyasu、Kubota Shun、Hashiguchi Shunta、Takahashi Keita、Kunii Misako、Tanaka Kenichi、Goshima Yoshio、Nakamura Fumio、Takeuchi Hideyuki、Doi Hiroshi、Tanaka Fumiaki
    • Journal Title

      eneuro

      Volume: - Issue: 3 Pages: 0133-22

    • DOI

      10.1523/eneuro.0133-22.2022

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07419, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07465, KAKENHI-PROJECT-18K15457
  • [Journal Article] Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions2022

    • Author(s)
      Park Hongsun、Yamanaka Tomoyuki、Toyama Yumiko、Fujita Atsushi、Doi Hiroshi、Nirasawa Takashi、Murayama Shigeo、Matsumoto Naomichi、Shimogori Tomomi、Ikegawa Masaya、Haltia Matti J.、Nukina Nobuyuki
    • Journal Title

      Acta Neuropathologica Communications

      Volume: 10 Issue: 1 Pages: 28-28

    • DOI

      10.1186/s40478-022-01333-8

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17KT0131, KAKENHI-PROJECT-17H01564, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K19458, KAKENHI-PROJECT-16H06277, KAKENHI-PROJECT-22K07538, KAKENHI-PLANNED-21H05240, KAKENHI-PROJECT-20H02932, KAKENHI-PROJECT-19K07988, KAKENHI-ORGANIZER-21H05238, KAKENHI-PROJECT-22H04923
  • [Journal Article] Phosphorylated CRMP1, axon guidance protein, is a component of spheroids and is involved in axonal pathology in amyotrophic lateral sclerosis2022

    • Author(s)
      Yuko, Kawamoto・・・Hiroshi Doi, et al.
    • Journal Title

      Frontiers in Neurology

      Volume: 13 Pages: 994676-994676

    • DOI

      10.3389/fneur.2022.994676

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07465, KAKENHI-PROJECT-18K15457
  • [Journal Article] Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy2022

    • Author(s)
      Daisuke Watanabe, Hiroshi Doi, et al.
    • Journal Title

      Neurological Sciences

      Volume: 43 Issue: 7 Pages: 4267-4274

    • DOI

      10.1007/s10072-022-05969-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Journal Article] Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease2022

    • Author(s)
      Kytovuori Laura、Sipila Jussi、Doi Hiroshi、Hurme-Niiranen Anri、Siitonen Ari、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Tanaka Fumiaki、Majamaa Kari
    • Journal Title

      npj Parkinson's Disease

      Volume: 8 Issue: 1 Pages: 6-6

    • DOI

      10.1038/s41531-021-00275-7

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-21K07298
  • [Journal Article] Ocular flutter as the presenting manifestation of autoimmune glial fibrillary acidic protein astrocytopathy2022

    • Author(s)
      Taishi Wada・・・Doi Hiroshi Doi, et al.
    • Journal Title

      Clinical Neurology and Neurosurgery

      Volume: 219 Pages: 107307-107307

    • DOI

      10.1016/j.clineuro.2022.107307

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07457
  • [Journal Article] Ablation of interleukin-19 improves motor function in a mouse model of amyotrophic lateral sclerosis2021

    • Author(s)
      Komiya Hiroyasu、Takeuchi Hideyuki、Ogawa Yuki、Suzuki Kosuke、Ogasawara Akihiro、Takahashi Keita、Azuma Yasu-Taka、Doi Hiroshi、Tanaka Fumiaki
    • Journal Title

      Molecular Brain

      Volume: 14 Issue: 1 Pages: 74-74

    • DOI

      10.1186/s13041-021-00785-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07531, KAKENHI-PROJECT-18K07532, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07465
  • [Journal Article] Therapeutic efficacy of heparin and direct factor Xa inhibitors in cancer-associated cryptogenic ischemic stroke with venous thromboembolism2021

    • Author(s)
      Yamaura Genpei、Ito Takeshi、Miyaji Yosuke、Ueda Naohisa、Nakae Yoshiharu、Momoo Takayuki、Nakano Tatsu、Johmura Yuji、Higashiyama Yuichi、Joki Hideto、Doi Hiroshi、Takeuchi Hideyuki、Takahashi Tatsuya、Koyano Shigeru、Yamaguchi Shigeki、Yokoyama Mutsumi、Tanaka Fumiaki
    • Journal Title

      Thrombosis Research

      Volume: 206 Pages: 99-103

    • DOI

      10.1016/j.thromres.2021.08.016

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Journal Article] SGTA associates with intracellular aggregates in neurodegenerative diseases2021

    • Author(s)
      Kubota Shun、Doi Hiroshi、Koyano Shigeru、Tanaka Kenichi、Komiya Hiroyasu、Katsumoto Atsuko、Ikeda Shingo、Hashiguchi Shunta、Nakamura Haruko、Fukai Ryoko、Takahashi Keita、Kunii Misako、Tada Mikiko、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      Molecular Brain

      Volume: 14 Issue: 1 Pages: 59-59

    • DOI

      10.1186/s13041-021-00770-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K16581, KAKENHI-PROJECT-21K07465
  • [Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing2021

    • Author(s)
      Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
    • Journal Title

      Clin Epigenetics

      Volume: 13 Issue: 1 Pages: 204-204

    • DOI

      10.1186/s13148-021-01192-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K21400, KAKENHI-PUBLICLY-20H05370, KAKENHI-PUBLICLY-21H00207, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-19K07250, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-19KK0183
  • [Journal Article] Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy2021

    • Author(s)
      Furukawa Soma、Kunii Misako、Doi Hiroshi、Kondo Naohide、Ogura Aya、Hirabuki Koichi、Itoh Takayuki、Matsumoto Naomichi、Tanaka Fumiaki、Katsuno Masahisa、Ito Yasuhiro
    • Journal Title

      Frontiers in Neurology

      Volume: 12

    • DOI

      10.3389/fneur.2021.622355

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07419
  • [Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment.2021

    • Author(s)
      Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
    • Journal Title

      Brain

      Volume: 144 Issue: 4 Pages: 1103-1117

    • DOI

      10.1093/brain/awab021

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07970, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K15704
  • [Journal Article] Molecular epidemiology of hereditary ataxia in Finland2021

    • Author(s)
      Lipponen Joonas、Helisalmi Seppo、Raivo Joose、Siitonen Ari、Doi Hiroshi、Rusanen Harri、Lehtilahti Maria、Ryytty Mervi、Laakso Markku、Tanaka Fumiaki、Majamaa Kari、Kytovuori Laura
    • Journal Title

      BMC Neurology

      Volume: 21 Issue: 1 Pages: 382-382

    • DOI

      10.1186/s12883-021-02409-z

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Journal Article] Long-read Sequencing Identifies the Pathogenic Nucleotide Repeat Expansion in RFC1 in a Japanese Case of CANVAS2020

    • Author(s)
      Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota, Misako Kunii, Yu Kitazawa, Mikiko Tada, Mitsuo Okamoto, Hideto Joki, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
    • Journal Title

      Journal of Human Genetics

      Volume: 65 Issue: 5 Pages: 475-480

    • DOI

      10.1038/s10038-020-0733-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K06767, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-18K07503
  • [Journal Article] CCR2 is localized in microglia and neurons, as well as infiltrating monocytes, in the lumbar spinal cord of ALS mice.2020

    • Author(s)
      Komiya H, Takeuchi H (責任著者), Ogawa Y, Hatooka Y, Takahashi K, Katsumoto A, Kubota S, Nakamura H, Kunii M, Tada M, Doi H, Tanaka F
    • Journal Title

      Molecular Brain

      Volume: 13 Issue: 1 Pages: 64-64

    • DOI

      10.1186/s13041-020-00607-3

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07531, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07532
  • [Journal Article] Hepatitis B Virus-related Vasculitic Neuropathy in an Inactive Virus Carrier Treated with Intravenous Immunoglobulin2020

    • Author(s)
      Kusama Kaori、Nakae Yoshiharu、Tada Mikiko、Higashiyama Yuichi、Miyaji Yosuke、Yamaura Genpei、Kunii Misako、Tanaka Kenichi、Ohyama Ken、Koike Haruki、Joki Hideto、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki
    • Journal Title

      Intern. Med.

      Volume: 59 Issue: 23 Pages: 3075-3078

    • DOI

      10.2169/internalmedicine.4498-20

    • NAID

      130007948802

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2020-12-01
    • Language
      English
    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07882, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504
  • [Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020

    • Author(s)
      Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
    • Journal Title

      J Med Genet

      Volume: 0 Issue: 8 Pages: 106896-106896

    • DOI

      10.1136/jmedgenet-2020-106896

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K16577
  • [Journal Article] Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy"2020

    • Author(s)
      Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N and Tanaka F
    • Journal Title

      Ann Neurol

      Volume: 88 Issue: 3 Pages: 642-643

    • DOI

      10.1002/ana.25819

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K16581, KAKENHI-PROJECT-18K07503
  • [Journal Article] Tonsillectomy Improved Therapeutic Response in Anti-SRP Myopathy With Chronic Tonsillitis2020

    • Author(s)
      Ikeda Takuya、Takeuchi Hideyuki、Takahashi Keita、Nakamura Haruko、Kunii Misako、Katsumoto Atsuko、Tada Mikiko、Higashiyama Yuichi、Hibiya Takashi、Suzuki Shigeaki、Nishino Ichizo、Koyano Shigeru、Doi Hiroshi、Tanaka Fumiaki
    • Journal Title

      Frontiers in Immunology

      Volume: 11 Pages: 595480-595480

    • DOI

      10.3389/fimmu.2020.595480

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Journal Article] CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations2020

    • Author(s)
      Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I.
    • Journal Title

      Acta Neuropathol Commun

      Volume: 8 Issue: 1 Pages: 204-204

    • DOI

      10.1186/s40478-020-01084-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K07866, KAKENHI-PROJECT-18K07082, KAKENHI-PROJECT-18K07503
  • [Journal Article] De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies2020

    • Author(s)
      Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Fumiaki Tanaka
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 416 Pages: 117047-117047

    • DOI

      10.1016/j.jns.2020.117047

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014
  • [Journal Article] Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome2019

    • Author(s)
      Nakamura Haruko、Komiya Hiroyasu、Uematsu Eri、Nakae Yoshiharu、Tanaka Kenichi、Kunii Misako、Tada Mikiko、Joki Hideto、Koyano Shigeru、Matsumoto Naomichi、Doi Hiroshi、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      Neurology: Clinical Practice

      Volume: 9 Issue: 5

    • DOI

      10.1212/cpj.0000000000000599

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539
  • [Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report2019

    • Author(s)
      Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
    • Journal Title

      BMC Neurology

      Volume: 19 Issue: 1 Pages: 253-253

    • DOI

      10.1186/s12883-019-1489-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
  • [Journal Article] Proteomic analysis of exosome-enriched fractions derived from cerebrospinal fluid of amyotrophic lateral sclerosis patients2019

    • Author(s)
      Hayashi Noriko、Doi Hiroshi、Kurata Yoichi、Kagawa Hiroyuki、Atobe Yoshitoshi、Funakoshi Kengo、Tada Mikiko、Katsumoto Atsuko、Tanaka Kenichi、Kunii Misako、Nakamura Haruko、Takahashi Keita、Takeuchi Hideyuki、Koyano Shigeru、Kimura Yayoi、Hirano Hisashi、Tanaka Fumiaki
    • Journal Title

      Neuroscience Research

      Volume: in press Pages: 30487-0

    • DOI

      10.1016/j.neures.2019.10.010

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-18K15460, KAKENHI-PROJECT-19H03774
  • [Journal Article] Non-traumatic Acute Epidural Hematoma in Multiple Sclerosis Treated With Fingolimod2019

    • Author(s)
      Fukai Ryoko、Takahashi Keita、Abe Hiroyuki、Higashiyama Yuichi、Doi Hiroshi、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      Frontiers in Neurology

      Volume: 10 Pages: 763-763

    • DOI

      10.3389/fneur.2019.00763

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K15459
  • [Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease2019

    • Author(s)
      Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
    • Journal Title

      Intern. Med.

      Volume: 58 Issue: 18 Pages: 2715-2719

    • DOI

      10.2169/internalmedicine.2126-18

    • NAID

      130007706950

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2019-09-15
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K19536
  • [Journal Article] GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy2019

    • Author(s)
      Okubo Masaki、Doi Hiroshi、et al.
    • Journal Title

      Annals of Neurology

      Volume: 86 Issue: 6 Pages: 962-968

    • DOI

      10.1002/ana.25586

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15459, KAKENHI-PROJECT-18K15460
  • [Journal Article] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 422019

    • Author(s)
      Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, (32名略) Ishikawa T, Tanaka F
    • Journal Title

      Neurobiology of Disease

      Volume: 130 Pages: 104516-104516

    • DOI

      10.1016/j.nbd.2019.104516

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K17014, KAKENHI-PUBLICLY-18H04937, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02540, KAKENHI-PROJECT-17K07064, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15460
  • [Journal Article] 【もっとうまくいく!病診連携の「伝え方」 わかりやすく伝えるための診療情報提供書作成のコツ】第II章<診療科別>コンサルトのポイント E. 脳神経内科へのコンサルト 歩行障害.2018

    • Author(s)
      土井 宏、田中 章景
    • Journal Title

      内科

      Volume: 122 Pages: 564-566

    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Journal Article] 【中枢神経疾患における末梢神経障害】 有棘赤血球舞踏病における末梢神経障害.2018

    • Author(s)
      土井 宏、田中 章景
    • Journal Title

      神経内科

      Volume: 89 Pages: 457-462

    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel2018

    • Author(s)
      Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
    • Journal Title

      Clinical Genetics

      Volume: - Issue: 2 Pages: 232-238

    • DOI

      10.1111/cge.13371

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-17H01539
  • [Journal Article] Two cases of anaphylactic shock by methylprednisolone in neuromyelitis optica2018

    • Author(s)
      Takahashi Keita、Asano Tetsuya、Higashiyama Yuichi、Koyano Shigeru、Doi Hiroshi、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      Multiple Sclerosis Journal

      Volume: 24 Issue: 11 Pages: 1514-1516

    • DOI

      10.1177/1352458518763099

    • NAID

      120006808928

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K15458
  • [Journal Article] 【ニューロジェネティクス新時代 次世代シークエンサーが拓く新しい世界】 筋疾患・神経疾患のジェネティクス 筋萎縮性側索硬化症.2018

    • Author(s)
      土井 宏、田中 章景
    • Journal Title

      Clinical Neuroscience

      Volume: 36 Pages: 206-209

    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018

    • Author(s)
      Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 63 Issue: 4 Pages: 417-423

    • DOI

      10.1038/s10038-017-0408-5

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15H05333, KAKENHI-PROJECT-17H00783, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-16K15526, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K11639, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H01877, KAKENHI-PROJECT-18H03372, KAKENHI-PROJECT-15H02654
  • [Journal Article] Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation2018

    • Author(s)
      Takahashi Keita、Takeuchi Hideyuki、Kurihara Yuji、Doi Hiroshi、Kunii Misako、Tanaka Kenichi、Nakamura Haruko、Fukai Ryoko、Tomita-Katsumoto Atsuko、Tada Mikiko、Higashiyama Yuichi、Joki Hideto、Koyano Shigeru、Takei Kohtaro、Tanaka Fumiaki
    • Journal Title

      Journal of Neuroinflammation

      Volume: 15 Issue: 1 Pages: 46-46

    • DOI

      10.1186/s12974-018-1084-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-16K19518, KAKENHI-PROJECT-16K21268, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K15458
  • [Journal Article] White matter hyperintensities on MRI in dementia with Lewy bodies, Parkinson's disease with dementia, and Alzheimer's disease2018

    • Author(s)
      Joki Hideto、Higashiyama Yuichi、Nakae Yoshiharu、Kugimoto Chiharu、Doi Hiroshi、Kimura Katsuo、Kishida Hitaru、Ueda Naohisa、Nakano Tatsu、Takahashi Tatsuya、Koyano Shigeru、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 385 Pages: 99-104

    • DOI

      10.1016/j.jns.2017.12.018

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies2018

    • Author(s)
      Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
    • Journal Title

      The Cerebellum

      Volume: 印刷中 Issue: 5 Pages: 525-530

    • DOI

      10.1007/s12311-018-0941-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539
  • [Journal Article] Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis2018

    • Author(s)
      Tada Mikiko、Doi Hiroshi、Koyano Shigeru、Kubota Shun、Fukai Ryoko、Hashiguchi Shunta、Hayashi Noriko、Kawamoto Yuko、Kunii Misako、Tanaka Kenichi、Takahashi Keita、Ogawa Yuki、Iwata Ryo、Yamanaka Shoji、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      The American Journal of Pathology

      Volume: 188 Issue: 2 Pages: 507-514

    • DOI

      10.1016/j.ajpath.2017.10.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K14956, KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15K09344
  • [Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales2018

    • Author(s)
      Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
    • Journal Title

      Clinical Genetics

      Volume: 94 Issue: 2 Pages: 274-275

    • DOI

      10.1111/cge.13369

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
  • [Journal Article] A Case of McLeod Syndrome with A Novel XK Missense Mutation2018

    • Author(s)
      Komiya H, Takasu M, Hashiguchi S, Uematsu E, Fukai R, Tanaka K, Tada M, Joki H, Takahashi T, Koyano S, Doi H, Takeuchi H, Tanaka F
    • Journal Title

      Mov Disord Clin Pract.

      Volume: 5 Issue: 3 Pages: 333-336

    • DOI

      10.1002/mdc3.12614

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07504
  • [Journal Article] 孤発性ALSの早期診断2017

    • Author(s)
      土井 宏、田中章景
    • Journal Title

      神経内科

      Volume: 86 Pages: 9-16

    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.2017

    • Author(s)
      Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
    • Journal Title

      EMBOJ

      Volume: 36 Issue: 9 Pages: 1227-1242

    • DOI

      10.15252/embj.201695630

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-16H04765, KAKENHI-PROJECT-14J07589, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K15069, KAKENHI-PROJECT-16K07001, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-15K09344
  • [Journal Article] Autosomal recessive spinocerebellar ataxias in Japan2016

    • Author(s)
      田中章景、土井 宏、國井美紗子
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 56 Issue: 6 Pages: 395-399

    • DOI

      10.5692/clinicalneurol.cn-000879

    • NAID

      130005158857

    • ISSN
      0009-918X, 1882-0654
    • Language
      Japanese
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Journal Article] Relationship between cortex and pulvinar abnormalities on diffusion-weighted imaging in status epilepticus.2016

    • Author(s)
      Nakae Y, Kudo Y, Yamamoto R, Dobashi Y, Kawabata Y, Ikeda S, Yokoyama M, Higashiyama Y, Doi H, Johkura K, Tanaka F.
    • Journal Title

      J Neurol.

      Volume: 263 Issue: 1 Pages: 127-132

    • DOI

      10.1007/s00415-015-7948-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Journal Article] FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis.2015

    • Author(s)
      Kino Y, Washizu C, Kurosawa M, Yamada M, Miyazaki H, Akagi T, Hashikawa T, Doi H, Takumi T, Hicks GG, Hattori N, Shimogori T, Nukina N.
    • Journal Title

      Acta Neuropathol Commun

      Volume: 3 Issue: 1 Pages: 24-24

    • DOI

      10.1186/s40478-015-0202-6

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-25461299, KAKENHI-PLANNED-23111005, KAKENHI-PROJECT-25242077, KAKENHI-PROJECT-25253066
  • [Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015

    • Author(s)
      Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    • Journal Title

      JAMA Neurology

      Volume: 72 Issue: 7 Pages: 797-805

    • DOI

      10.1001/jamaneurol.2015.0610

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09335, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-221S0002, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25461287
  • [Journal Article] Clinicopathologic features of folate-deficiency neuropathy.2015

    • Author(s)
      Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G.
    • Journal Title

      Neurology

      Volume: 84 Issue: 10 Pages: 1026-1033

    • DOI

      10.1212/wnl.0000000000001343

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-26461292, KAKENHI-PROJECT-25461276, KAKENHI-PROJECT-25461278
  • [Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation2015

    • Author(s)
      Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
    • Journal Title

      J Hum Genet

      Volume: 60 Issue: 4 Pages: 187-191

    • DOI

      10.1038/jhg.2015.7

    • NAID

      40020433141

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-22129005, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26670445, KAKENHI-PROJECT-25293207, KAKENHI-PROJECT-25293235
  • [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014

    • Author(s)
      Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
    • Journal Title

      Sci Rep

      Volume: 4 Issue: 1 Pages: 7132-7132

    • DOI

      10.1038/srep07132

    • NAID

      120007100602

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293207, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26440105, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670445
  • [Journal Article] 神経細胞変性のメカニズム「蛋白質凝集と神経変性」2014

    • Author(s)
      土井 宏, 田中章景
    • Journal Title

      BRAIN MEDICAL

      Volume: 26 Pages: 73-79

    • Data Source
      KAKENHI-PROJECT-25293207
  • [Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy2013

    • Author(s)
      Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
    • Journal Title

      Mov Disord

      Volume: 28 Issue: 4 Pages: 552-553

    • DOI

      10.1002/mds.25296

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation.2013

    • Author(s)
      Dziewulska D, Doi H, Fasano A, Erro R, Fatehi F, Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H, Piperno A, Pellechia MT, Wu YR, Yoshida K, Zarruk JG, Jingli S, Schrag A, McNeill A.
    • Journal Title

      Acta Neuropathol

      Volume: 126 Issue: 1 Pages: 151-153

    • DOI

      10.1007/s00401-013-1136-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy2013

    • Author(s)
      Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
    • Journal Title

      Mov Disord

      Volume: 28(4) Pages: 552-553

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation2013

    • Author(s)
      Dziewulska D, Doi H, Fasano A, Erro R, Fatehi F, Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H, Piperno A, Pellechia MT, Wu YR, Yoshida K, Zarruk JG, Jingli S, Schrag A, McNeill A
    • Journal Title

      Acta Neuropathol

      Volume: 126(1) Pages: 151-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia : efficient diagnosis by exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia2013

    • Author(s)
      Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F and Matsumoto N
    • Journal Title

      Intern Med

      Volume: 52(14) Pages: 1629-1633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] The diagnostic utility of exome sequencing in Joubert syndrome related disorders2013

    • Author(s)
      Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
    • Journal Title

      J Hum Genet

      Volume: 58(2):113-115 Issue: 2 Pages: 113-115

    • DOI

      10.1038/jhg.2012.117

    • NAID

      10031156434

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25461637
  • [Journal Article] ALSのパーソナルゲノム解析2013

    • Author(s)
      田中章景,曽根 淳,熱田直樹,中村亮一,土井 宏,児矢野 繁,祖父江 元
    • Journal Title

      Brain and Nerve

      Volume: 65 Pages: 257-265

    • Data Source
      KAKENHI-PLANNED-22129005
  • [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013

    • Author(s)
      Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
    • Journal Title

      Neurogenet

      Volume: 14 Issue: 3-4 Pages: 225-232

    • DOI

      10.1007/s10048-013-0375-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390261, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation2013

    • Author(s)
      Miyake N^<#>, Yano S^<#> (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N
    • Journal Title

      Hum Mut

      Volume: 34(3):446-452 Issue: 3 Pages: 446-452

    • DOI

      10.1002/humu.22257

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893
  • [Journal Article] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia2013

    • Author(s)
      Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F and Matsumoto N
    • Journal Title

      Intern Med

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like.2013

    • Author(s)
      Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161A Issue: 7 Pages: 1543-1546

    • DOI

      10.1002/ajmg.a.35983

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Phenotypic spectrum of COL4A1 mutations : porencephaly to schizencephaly2013

    • Author(s)
      Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H
    • Journal Title

      Ann Neurol

      Volume: 73(1) Pages: 48-57

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation2013

    • Author(s)
      Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N
    • Journal Title

      Hum Mutat

      Volume: 34(3) Pages: 446-452

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013

    • Author(s)
      Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
    • Journal Title

      Am J Hum Genet

      Volume: 93(1) Pages: 6-18

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.2013

    • Author(s)
      Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Nakashima M, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, Matsumoto N.
    • Journal Title

      Mol Vis

      Volume: 19 Pages: 384-389

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013

    • Author(s)
      Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
    • Journal Title

      Am J Hum Genet

      Volume: 93 Issue: 1 Pages: 6-18

    • DOI

      10.1016/j.ajhg.2013.05.004

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] CBSと関連する遺伝子変異2013

    • Author(s)
      土井宏、田中章景
    • Journal Title

      Brain Nerve

      Volume: 65 Pages: 19-30

    • NAID

      130004505325

    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.2013

    • Author(s)
      Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F and Matsumoto N.
    • Journal Title

      Intern Med

      Volume: 52 Pages: 1629-1633

    • NAID

      130003365707

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] CBSと関連する遺伝子変異2013

    • Author(s)
      土井 宏、田中 章景
    • Journal Title

      臨床神経

      Volume: 53 Pages: 1026-1028

    • NAID

      130004505325

    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] ALSのパーソナルゲノム解析2013

    • Author(s)
      田中章景、曽根淳、熱田直樹、中村亮一、土井宏、児矢野繁、祖父江元
    • Journal Title

      Brain Nerve

      Volume: 65 Pages: 257-265

    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Corticobasal Syndrome CBSと関連する遺伝子変異2013

    • Author(s)
      土井宏
    • Journal Title

      BRAIN and NERVE

      Volume: 65 Pages: 19-30

    • Data Source
      KAKENHI-PLANNED-22129005
  • [Journal Article] The diagnostic utility of exome sequencing in Joubert syndrome and related disorders2013

    • Author(s)
      Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
    • Journal Title

      J Hum Genet

      Volume: 58(2) Pages: 113-115

    • NAID

      10031156434

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Clinical Genetics

      Volume: 81(4):399-402 Issue: 4 Pages: 86-90

    • DOI

      10.1111/j.1399-0004.2011.01733.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients2012

    • Author(s)
      Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: (in press) Issue: 2 Pages: 135-144

    • DOI

      10.1111/j.1399-0004.2012.01885.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24791844
  • [Journal Article] A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).2012

    • Author(s)
      Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.
    • Journal Title

      Intern Med

      Volume: 51 Pages: 2221-2226

    • NAID

      130002062292

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] A family of oculofaciocardiodental syndrome(OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS2012

    • Author(s)
      Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57巻 Issue: 3 Pages: 197-201

    • DOI

      10.1038/jhg.2012.4

    • NAID

      10030712110

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001
  • [Journal Article] A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL52012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Brain Dev

      Volume: 34(5):364-7 Issue: 5 Pages: 364-367

    • DOI

      10.1016/j.braindev.2011.07.004

    • NAID

      10031050724

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012

    • Author(s)
      Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
    • Journal Title

      Neurology

      Volume: 78(11) Issue: 11 Pages: 803-10

    • DOI

      10.1212/wnl.0b013e318249f71f

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591117, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534, KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24240042, KAKENHI-PROJECT-24659486, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012

    • Author(s)
      Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57巻 Issue: 3 Pages: 207-211

    • DOI

      10.1038/jhg.2012.7

    • NAID

      10030712151

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-24116007, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005
  • [Journal Article] A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)2012

    • Author(s)
      Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N
    • Journal Title

      Intern Med

      Volume: 51(16) Pages: 2221-2226

    • NAID

      130002062292

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Epilepsia

      Volume: 53(8):1441-1449 Issue: 8 Pages: 1441-1449

    • DOI

      10.1111/j.1528-1167.2012.03548.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods : resequencing microarray technology and next-generation sequencing2012

    • Author(s)
      Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N
    • Journal Title

      Hum Genet

      Volume: 131巻 Issue: 4 Pages: 591-599

    • DOI

      10.1007/s00439-011-1105-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23592045, KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity2012

    • Author(s)
      Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57(12) Pages: 804-806

    • NAID

      10031145889

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity.2012

    • Author(s)
      Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.
    • Journal Title

      Neurogenetics.

      Volume: 13 Issue: 4 Pages: 327-332

    • DOI

      10.1007/s10048-012-0337-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591488, KAKENHI-PROJECT-23659341, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
  • [Journal Article] 次世代シーケンサーを用いた脊髄小脳変性症の疾患責任遺伝子単離.2012

    • Author(s)
      土井 宏
    • Journal Title

      横浜医学

      Volume: 63 Pages: 641-648

    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.2012

    • Author(s)
      Miyatake S
    • Journal Title

      J Hum Genet.

      Volume: 57 Issue: 12 Pages: 804-806

    • DOI

      10.1038/jhg.2012.105

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PLANNED-24118007
  • [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Ann Neurol

      Volume: 72(2):298-300 Issue: 2 Pages: 298-300

    • DOI

      10.1002/ana.23620

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
  • [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012

    • Author(s)
      Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
    • Journal Title

      Ann Neurol

      Volume: 72(2) Pages: 298-300

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly2011

    • Author(s)
      Yoneda Y, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 90 Issue: 1 Pages: 86-90

    • DOI

      10.1016/j.ajhg.2011.11.016

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011

    • Author(s)
      Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
    • Journal Title

      Am J Med Genet A

      Volume: (in press) Issue: 1 Pages: 2879-84

    • DOI

      10.1002/ajmg.a.34363

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-24591500
  • [Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.2011

    • Author(s)
      Saitsu H. et al.
    • Journal Title

      Am J Hum Genet.

      Volume: 89 Issue: 5 Pages: 644-651

    • DOI

      10.1016/j.ajhg.2011.10.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PUBLICLY-23112718, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-23687025, KAKENHI-PROJECT-23689052
  • [Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing2011

    • Author(s)
      Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
    • Journal Title

      J Med Genet

      Volume: 48巻 Issue: 9 Pages: 606-609

    • DOI

      10.1136/jmg.2010.083535

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa2011

    • Author(s)
      Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N
    • Journal Title

      Int J Immunogenet

      Volume: 38巻 Issue: 4 Pages: 287-293

    • DOI

      10.1111/j.1744-313x.2011.01005.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy2011

    • Author(s)
      Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: 80巻 Issue: 2 Pages: 161-166

    • DOI

      10.1111/j.1399-0004.2011.01721.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant2011

    • Author(s)
      Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: 80巻 Issue: 3 Pages: 293-296

    • DOI

      10.1111/j.1399-0004.2011.01644.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al
    • Journal Title

      Am J Hum Genet

      Volume: 89 Issue: 2 Pages: 320-327

    • DOI

      10.1016/j.ajhg.2011.07.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591021, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis2011

    • Author(s)
      Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 56巻 Issue: 5 Pages: 343-347

    • DOI

      10.1038/jhg.2011.16

    • NAID

      10030659126

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Patent] 常染色体劣性遺伝性脊髄小脳変性症の検出方法2011

    • Inventor(s)
      土井宏、松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Number
      2011-136277
    • Filing Date
      2011-06-20
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Presentation] 両アレル性AAGGGおよびACAGGリピート伸長を持つCerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) 剖検2例におけるRNA fociの形成2024

    • Author(s)
      和田大司, 土井宏, 大久保正紀, 多田美紀子, 上田直久, 冨永和奏, 小池春樹, 中村治子, 高橋慶太, 國井美紗子, 宮地洋輔, 東山雄一, 宮武聡子, 勝野雅央, 藤井誠志, 松本直通, 竹内英之 ,田中章景.
    • Organizer
      日本小脳学会 第14回学術大会
    • Data Source
      KAKENHI-PROJECT-21K07440
  • [Presentation] Pathological evaluations of patients of CANVAS with biallelic expansion of AAGGG and ACAGG repeats.2023

    • Author(s)
      和田大司, 土井宏, 大久保正紀, 多田美紀子, 上田直久, 冨永和奏, 小池春樹, 細田航平, 中村治子, 高橋慶太, 國井美紗子, 宮地洋輔, 東山雄一, 宮武聡子, 勝野雅央, 藤井誠志, 松本直通, 竹内英之, 田中章景
    • Organizer
      第64回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Presentation] Pathological evaluations of patients of CANVAS with biallelic expansion of AAGGG and ACAGG repeats2023

    • Author(s)
      Wada T, Doi H, Okubo M, Tada M, Ueda N, Tominaga W, Koike H, Hosoda K, Nakamura H, Takahashi K, Kunii M, Miyaji Y, Higashiyama Y, Miyatake S, Katsuno M, Fujii S, Matsumoto N, Takeuchi H, Tanaka F.
    • Organizer
      64th Annual Meeting of the Japnese Society of Neurology
    • Data Source
      KAKENHI-PROJECT-21K07440
  • [Presentation] Analysis of genetic background of adult leukoencephalopathies.2023

    • Author(s)
      土井宏, 大久保正紀, 深井綾子, 國井美紗子, 和田大司, 岸田日帯, 工藤洋祐, 山口滋紀, 高橋慶太, 多田美紀子, 宮武聡子, 伊藤泰広, 上田直久, 児矢野繁, 竹内英之, 松本直通, 田中章景
    • Organizer
      第64回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Presentation] Nogo受容体の内因性アンタゴニストであるLOTUSはALSモデルマウスの症状を改善する2022

    • Author(s)
      池田拓也,髙橋慶太,橋口俊太,田中健一,土井宏,竹居光太郎,竹内英之,田中章景
    • Organizer
      第40回日本神経治療学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] CRMP1のリン酸化阻害は筋萎縮性側索硬化症モデルマウスの生存期間,運動機能の改善をもたらす2022

    • Author(s)
      浅野徹也,中村治子,川本裕子,多田美紀子,木村弥生,高野洋志,八尾良司,橋口俊太,髙橋慶太,國井美紗子,田中健一,五嶋良郎,中村史雄,竹内英之,土井宏,田中章景
    • Organizer
      第40回日本神経治療学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Anti-inflammatory effects of siponimod on astrocyte.2022

    • Author(s)
      小笠原陽大,竹内英之,古宮裕泰,小川有紀,髙橋慶太,橋口俊太,國井美紗子,多田美紀子,田中健一,土井宏,田中章景
    • Organizer
      第63回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Ser522-phosphorylation of CRMP1 modulates the motor function of amyotrophic lateral sclerosis mice.2022

    • Author(s)
      浅野徹也,中村治子,川本裕子,多田美紀子,木村弥生,高野洋志,八尾良司,橋口俊太,髙橋慶太,國井美紗子,田中健一,五嶋良郎,中村史雄,竹内英之,土井宏,田中章景
    • Organizer
      第63回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Ethosuximide improves clinical and pathological phenotypes of SCA42 mouse model.2022

    • Author(s)
      Shunta Hashiguchi, Hiroshi Doi, Masaki Okubo, Misako Kunii, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Hideyuki Takeuchi, Taro Ishikawa, Fumiaki Tanaka
    • Organizer
      第63回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Presentation] LOTUS, an Nogo receptor antagonist, improves phenotypes of ALS.2022

    • Author(s)
      池田拓也,髙橋慶太,橋口俊太,國井美紗子,田中健一,多田美紀子,土井宏,竹居光太郎,竹内英之,田中章景
    • Organizer
      第63回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Anti-inflammatory effects of siponimod on astrocyte.2022

    • Author(s)
      小笠原陽大,竹内英之,古宮裕泰,小川有紀,髙橋慶太,橋口俊太,國井美紗子,多田美紀子,田中健一,土井宏,田中章景
    • Organizer
      第45回日本神経科学大会/第65回日本神経化学会大会/第32回日本神経回路学会大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] ミクログリアに対するインフラマソームを介したシポニモドの抗炎症作用2022

    • Author(s)
      古宮裕泰,竹内英之,小笠原陽大,髙橋慶太,田中健一,多田美紀子,土井宏,田中章景
    • Organizer
      第34回日本神経免疫学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Axonal accumulation of phosphorylated CRMP1 in human ALS spinal cords.2022

    • Author(s)
      川本裕子,浅野徹也,中村治子,多田美紀子,橋口俊太,髙橋慶太,國井美紗子,田中健一,五嶋良郎,竹内英之,土井宏,中村史雄,田中章景
    • Organizer
      第63回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Ser522-phosphorylation of CRMP1 modulates the motor function of amyotrophic lateral sclerosis mice.2022

    • Author(s)
      浅野徹也,中村治子,川本裕子,多田美紀子,木村弥生,高野洋志,八尾良司,橋口俊太,髙橋慶太,國井美紗子,田中健一,五嶋良郎,中村史雄,竹内英之,土井宏,田中章景
    • Organizer
      第45回日本神経科学大会/第65回日本神経化学会大会/第32回日本神経回路学会大会
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Ethosuximide improves clinical and pathological phenotypes of SCA42 mouse model.2022

    • Author(s)
      Masaki Okubo, Hiroshi Doi, Shunta Hashiguchi, Misako Kunii, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Hideyuki Takeuchi, Taro Ishikawa, Fumiaki Tanaka
    • Organizer
      第45回日本神経科学大会
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Presentation] Ablation of interleukin-19 improves motor function in a mouse model of amyotrophic lateral sclerosis.2021

    • Author(s)
      Komiya H, Takeuchi H, Ogawa Y, Ogasawara A, Takahashi K, Doi H, Tanaka F.
    • Organizer
      15th International Society of Neuroimmunology Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Anti-inflammatory effects of siponimod on astrocyte.2021

    • Author(s)
      Ogasawara A, Takeuchi H, Komiya H, Ogawa Y, Takahashi K, Doi H, Tanaka F.
    • Organizer
      15th International Society of Neuroimmunology Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] RNA helicases DDX5 and DDX17 are involved in sporadic ALS pathology.2021

    • Author(s)
      Mikiko Tada, Hiroshi Doi, Shingo Ikeda, Shunta Hashiguchi, Keita Takahashi, Misako Kunii, Kenichi Tanaka, Shigeru Koyano, Hideyuki Takeuchi, Fumiaki Tanaka
    • Organizer
      62nd Annual Meeting of Japanese Society of Neurology
    • Data Source
      KAKENHI-PROJECT-19K07845
  • [Presentation] Identification of intronic repeat expansion of RFC1 by long-read sequencer.2021

    • Author(s)
      土井宏、中村治子、宮武聡子、三橋里美、水口剛、大久保正紀、工藤洋祐、浅野徹也、國井美紗子、田中健一、多田美紀子、上木英人、竹内英之、松本直通、田中章景
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07298
  • [Presentation] Ablation of interleukin-19 improves motor function in a mouse model of amyotrophic lateral sclerosis.2021

    • Author(s)
      Komiya H, Takeuchi H, Ogasawara A, Ogawa Y, Takahashi K, Doi H, Tanaka F.
    • Organizer
      Pan-Asia Consortium for Treatment and Research in ALS
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] CCR2 is localized in microglia and neurons, as well as infiltrating monocytes, in the lumbar spinal cord of ALS mice.2021

    • Author(s)
      Ogasawara A, Takeuchi H, Komiya H, Ogawa Y, Takahashi K, Doi H, Tanaka F.
    • Organizer
      Pan-Asia Consortium for Treatment and Research in ALS
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07465
  • [Presentation] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 422020

    • Author(s)
      橋口俊太,土井宏,國井美紗子,中村行宏,志牟田美佐,鈴木江津子,大久保正紀, 窪田瞬,多田美紀子,児矢野繁,竹内英之,石川太郎,田中章景
    • Organizer
      第61回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Presentation] Genetic analysis of adult leukoencephalopathies2020

    • Author(s)
      土井宏,大久保正紀,深井綾子,國井美紗子,岸田日帯,高橋慶太,勝元敦子,多田美紀子,藤田京志,三橋里美,宮武聡子,伊藤泰広, 上田直久,児矢野繁,竹内英之,松本直通,田中章景
    • Organizer
      第61回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Presentation] DDX5 accumulates in neuronal cytoplasmic inclusions with TDP-43 in SALS.2020

    • Author(s)
      Mikiko Tada, Hiroshi Doi, Shingo Ikeda, Shunta Hashiguchi, Atsuko Katsumoto, Misako Kunii, Keita Takahashi, Koyano Shigeru, Hideyuki Takeuchi, Fumiaki Tanaka
    • Organizer
      61st Annual Meeting of the Japanese Society of Neurology, Okayama, 2020,5.
    • Data Source
      KAKENHI-PROJECT-19K07845
  • [Presentation] DDX5 accumulates in neuronal cytoplasmic inclusions with TDP-43 in SALS.2020

    • Author(s)
      Mikiko Tada,Hiroshi Doi,Shingo Ikeda,Shunta Hashiguchi,Atsuko Katsumoto,Misako Kunii,Keita Takahashi,Koyano Shigeru, Hideyuki Takeuchi, Fumiaki Tanaka
    • Organizer
      第61回日本神経学会総会
    • Data Source
      KAKENHI-PROJECT-19K07845
  • [Presentation] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.2019

    • Author(s)
      Hiroshi Doi, Shunta Hashiguchi, Misako Kunii, Yukihiro Nakamura, Misa Shimuta, Etsuko Suzuki, Masaki Okubo, Toshikuni Sasaoka, Hideyuki Takeuchi, Taro Ishikawa, Fumiaki Tanaka
    • Organizer
      Neuroscience 2019
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Presentation] 血管内大細胞性B細胞リンパ腫を併発し、R-CHOP療法で劇的な改善を認めた抗SRP抗体陽性筋炎の1例2018

    • Author(s)
      古宮 裕泰, 児矢野 繁, 土井 宏, 西野 一三, 竹内 英之, 田中 章景
    • Organizer
      第36回日本神経治療学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07504
  • [Presentation] Clinical characteristics of four patients with ERCC4 mutations manifesting ataxia phenotype.2018

    • Author(s)
      土井 宏, 児矢野繁, 宮武聡子, 中島伸二, 中沢由華, 國井美紗子, 勝元敦子, 深井綾子, 荻朋男, 竹内英之, 松本直通, 田中章景
    • Organizer
      第59回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07503
  • [Presentation] Exome analysis of autosomal recessive or sporadic cases of cerebellar ataxia and spastic paraplegia.2017

    • Author(s)
      Doi H., Koyano S., Kunii M., Miyatake S., Nakajima S., Hashiguchi S., Ikeda S., Kubota S., Hirama N., Ogawa Y., Takahashi K., Tada M., Tanaka K., Takeuchi H., Matsumoto N., Tanaka F.
    • Organizer
      XXIII World Congress of Neurology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Presentation] The clinical and pathological features of autosomal-dominant SCA with CACNA1G mutation.2016

    • Author(s)
      Doi H, Koyano S, Shiina M, Ogata K, Hirashima F, Inoue Y, Hashiguchi S, Kunii M, Kishida H, Yokota T, Mizusawa H, Mitsui J, Tsuji S, Matsumoto N, Ishikawa K and Tanaka F.
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸国際会議場(兵庫)
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Presentation] RNF213多型を認め、中大脳動脈領域に広範囲の脳梗塞を生じた39歳男性例2016

    • Author(s)
      浅野 敬一郎, 三宅 綾子, 中江 啓晴, 田中 健一, 多田 美紀子, 土井 宏, 児矢野 繁, 田中 章景
    • Organizer
      第217回日本神経学会関東・甲信越地方会
    • Place of Presentation
      砂防会館(東京都)
    • Year and Date
      2016-06-04
    • Data Source
      KAKENHI-PROJECT-15K18367
  • [Presentation] Matrin 3 is a component of neuronal cytoplasmic inclusion of motor neuron in SALS2015

    • Author(s)
      Mikiko Tada, Hiroshi Doi, Shigeru Koyano, Fumiaki Tanaka
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟県新潟市)
    • Year and Date
      2015-05-20
    • Data Source
      KAKENHI-PROJECT-15K18367
  • [Presentation] 孤発性筋萎縮性側索硬化症におけるMatrin3の病理学的検討2015

    • Author(s)
      多田 美紀子、土井 宏、児矢野 繁、田中 章景
    • Organizer
      第56回日本神経病理学会総会
    • Place of Presentation
      九州大学医学部百年講堂(福岡県福岡市東区)
    • Year and Date
      2015-06-03
    • Data Source
      KAKENHI-PROJECT-26670445
  • [Presentation] 孤発性筋萎縮性側索硬化症におけるMatrin3の病理学的検討2015

    • Author(s)
      多田美紀子,土井宏,児矢野繁,田中章景
    • Organizer
      第56回日本神経病理学会総会
    • Place of Presentation
      九州大学医学部百年講堂(福岡県福岡市)
    • Year and Date
      2015-06-03
    • Data Source
      KAKENHI-PROJECT-15K18367
  • [Presentation] 孤発性筋萎縮性側索硬化症におけるMatrin3の病理学的検討2015

    • Author(s)
      多田 美紀子、土井 宏、児矢野 繁、田中 章景
    • Organizer
      第56回日本神経病理学会総会
    • Place of Presentation
      九州大学医学部百年講堂(福岡県福岡市東区)
    • Year and Date
      2015-06-03
    • Data Source
      KAKENHI-PROJECT-25293207
  • [Presentation] Late-onset spastic ataxia phenotype related to a novel homozygous DDHD2 mutation2015

    • Author(s)
      土井 宏、吉田 邦広、牛山 雅夫、谷 佳津子、松本 直通、田中 章景
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟県新潟市中央区)
    • Year and Date
      2015-05-20
    • Data Source
      KAKENHI-PROJECT-26670445
  • [Presentation] Late-onset spastic ataxia phenotype related to a novel homozygous DDHD2 mutation2015

    • Author(s)
      土井 宏、吉田 邦広、牛山 雅夫、谷 佳津子、松本 直通、田中 章景
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟県新潟市中央区)
    • Year and Date
      2015-05-20
    • Data Source
      KAKENHI-PROJECT-25293207
  • [Presentation] Late-onset spastic ataxia phenotype related to a novel homozygous DDHD2 mutation.2015

    • Author(s)
      土井宏,吉田邦広,牛山雅夫,谷佳津子,松本直通,田中章景
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟)
    • Year and Date
      2015-05-23
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Presentation] 劣性型脊髄小脳変性症・痙性対麻痺6例に対するエクソーム解析2013

    • Author(s)
      土井 宏、岸田日帯、東山雄一、松本直通、田中章景
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      国際フォーラム(東京)
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Presentation] 熱ショック因子1は球脊髄性筋萎縮症の運動神経変性を抑える2013

    • Author(s)
      近藤直英, 勝野雅央, 足立弘明, 南山 誠, 土井英樹, 松本慎二郎, 宮崎 雄, 飯田 円, 中辻秀朗, 藤内玄規, 石垣診祐, 藤岡祐介, 渡辺宏久, 田中章景, 祖父江元
    • Organizer
      第36回日本神経科学大会 Neuro 2013
    • Place of Presentation
      国立京都国際会館(京都府京都市左京区)
    • Data Source
      KAKENHI-PROJECT-25293207
  • [Presentation] CBSと関連する遺伝子変異2013

    • Author(s)
      土井 宏、田中章景
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      国際フォーラム(東京)
    • Invited
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Presentation] CBSと関連する遺伝子変異2013

    • Author(s)
      土井宏、田中章景
    • Organizer
      第54回日本神経学会学術大会(シンポジウム)
    • Place of Presentation
      国際フォーラム(東京)
    • Year and Date
      2013-05-29
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Presentation] Exome sequencing reveals a novel homozygous mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      土井宏
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Montreal、Canada
    • Year and Date
      2011-10-14
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Presentation] Exome sequencing reveals a novel homozygous mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      土井宏
    • Organizer
      American Society of Human Genetics Annual Meeting 2011
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Presentation] 次世代シーケンサーを用いた常染色体劣性遺伝性脊髄小脳変性症責任遺伝子の単離研究2011

    • Author(s)
      土井宏
    • Organizer
      日本神経学会学術大会
    • Place of Presentation
      名古屋国際会議場(愛知県)
    • Year and Date
      2011-05-19
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Presentation] 脊髄小脳失調症2型患者脊髄前角細胞の免疫組織化学的検討2010

    • Author(s)
      土井宏, 他
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京、東京国際フォーラム
    • Year and Date
      2010-05-21
    • Data Source
      KAKENHI-PROJECT-22790823
  • [Presentation] 劣性型脊髄小脳変性症・痙性対麻痺遺伝子診断に対するエクソーム解析の有用性

    • Author(s)
      土井 宏、他
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム(東京)
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Presentation] SCARB2遺伝子に変異を認めた高齢発症の進行性ミオクローヌスてんかん兄妹例

    • Author(s)
      東山雄一,土井宏,阿部弘基,中村治子,工藤洋祐,上木英人,児矢野 繁,鈴木ゆめ,黒岩義之,松本直通,田中章景
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム(東京都千代田)
    • Year and Date
      2013-05-29 – 2013-06-01
    • Data Source
      KAKENHI-PLANNED-22129005
  • 1.  TANAKA Fumiaki (30378012)
    # of Collaborated Projects: 23 results
    # of Collaborated Products: 74 results
  • 2.  TAKEUCHI Hideyuki (30362213)
    # of Collaborated Projects: 10 results
    # of Collaborated Products: 40 results
  • 3.  TADA Mikiko (30722467)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 9 results
  • 4.  國井 美紗子 (80725200)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 19 results
  • 5.  TANAKA Ken-ichi (50722881)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 13 results
  • 6.  KOYANO Shigeru (50315818)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 7 results
  • 7.  Yuichi HIGASHIYAMA (10722449)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 8.  高橋 慶太 (20773740)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 9.  Ueda Naohisa (00305442)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 10.  MATSUMOTO Naomichi (80325638)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 8 results
  • 11.  ATSUTA Naoki (90547457)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 12.  SOBUE Gen (20148315)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 13.  NUKINA Nobuyuki (10134595)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 14.  ISHIKAWA Kinya (30313240)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 15.  石川 太郎 (50547916)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 16.  古宮 裕泰 (90794553)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  森本 悟 (00816952)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  中村 治子 (70806223)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  森原 啓介 (80806216)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  窪田 瞬 (60891851)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  FRITH Martin
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 22.  KUROIWA Yoshiyuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 23.  Hashiguchi Syunta
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 24.  Ohba Chihiro
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  ADACHI Hiroaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 26.  HAYASHI Ikuko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 27.  SATAKE Tomoko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  SHIRAISHI Hideaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 29.  HANAJIMA Ritsuko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 30.  才津 浩智
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 31.  内原 俊記
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  三橋 里美
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 33.  三宅 紀子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 5 results
  • 34.  宮武 聡子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 35.  緒方 一博
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 36.  水口 剛
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 37.  加藤 光広
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 38.  豊田 知子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 39.  下郡 智美
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 40.  山中 智行
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 41.  鶴崎 美徳
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 42.  木村 活生
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 43.  鈴木 厚
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 44.  斉藤 伸治
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 45.  福嶋 義光
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 46.  森田 洋
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 47.  志牟田 美佐
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

URL: 

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi