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Doi Hiroshi  土井 宏

… Alternative Names

DOI Hiroshi  土井 宏

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Researcher Number 10326035
Other IDs
  • ORCIDhttps://orcid.org/0000-0001-5807-2523
Affiliation (Current) 2019: 横浜市立大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help 2016 – 2019: 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
Except Principal Investigator
Neurology / Basic Section 52020:Neurology-related / Biological Sciences / Nerve anatomy/Neuropathology / Basic Section 51030:Pathophysiologic neuroscience-related
Keywords
Principal Investigator
脊髄小脳変性症 / エクソーム / 常染色体劣性遺伝 / 劣性遺伝 / 次世代シーケンサー / exome / 脊髄小脳失調症 / マウスモデル
Except Principal Investigator
ALS / ポリグルタミン病 … More / 次世代シーケンサー / UBQLN2 / 脳神経疾患 / 神経科学 / SALS / エクソーム解析 / 遺伝子診断 / 病因遺伝子 / 家族性ALS / カスタムキャプチャー / 白質脳症 / ターゲットキャプチャー / PCBP / RNA結合タンパク / 核内封入体 / matrin3 / polyglutamine / FTLD / TDP43 / MATR3 / ノックアウトマウス / 神経変性疾患 / 単球系細胞 / LOTUS / パーキンソン病 / 仮面様顔貌 / Parkinson / amimia / 記憶 / 情動 / 表情 / 認知機能 / MRI / 脳・神経 / 臨床 / DDX5 / DDX17 Less
  • Research Projects

    (14 results)
  • Research Products

    (85 results)
  • Co-Researchers

    (65 People)
  •  孤発性ALS病態形成におけるDEAD box RNA helicaseの役割解明Ongoing

    • Principal Investigator
      多田 美紀子
    • 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
  •  脊髄小脳失調症新規モデルマウスを用いた病態解明と治療法開発Principal InvestigatorOngoing

    • Principal Investigator
      土井 宏
    • 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
  •  Loss of functionモデルに基づいたUBQLN2の機能解析Ongoing

    • Principal Investigator
      田中 健一
    • 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
  •  生体恒常性センサーである単球系細胞の制御に基づく神経変性疾患の画期的な治療法開発Ongoing

    • Principal Investigator
      竹内 英之
    • 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
  •  神経再生機能分子LOTUSによるALS の治療法開発Ongoing

    • Principal Investigator
      田中 章景
    • 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 2018 2017 2016 2015 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book

  • [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] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.2018

    • 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: -

    • DOI
      10.1111/cge.13371
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15K09344
  • [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.2018

    • 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 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
  • [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

    • DOI
      10.1007/s12311-018-0941-6
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15K09344
  • [Journal Article] Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis.2018

    • 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 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] 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

      EMBO J

      Volume: 36 Pages: 1227-1242

    • DOI
      10.15252/embj.201695630
    • Peer Reviewed / Acknowledgement Compliant
    • 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
    • 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 Pages: 127-132

    • DOI
      10.1007/s00415-015-7948-4
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09344
  • [Journal Article] FUS/TLS deficiency causes beahvioral and pathological abnoramlities distinct from amyotrophic lateral sclerosis2015

    • 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 Neuropathologica Communications

      Volume: 3 Pages: 1-12

    • DOI
      10.1186/s40478-015-0202-6
    • Peer Reviewed / Open Access / Acknowledgement Compliant / 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 SCA342015

    • 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 Neurol.

      Volume: 72 Pages: 797-805

    • DOI
      10.1001/jamaneurol.2015.0610
    • Peer Reviewed / Open Access / Acknowledgement Compliant / 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] Clinicopathological features of folate-deficiency neuropathy2015

    • 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 Pages: 1026-1033

    • DOI
      10.1212/wnl.0000000000001343
    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-26461292, KAKENHI-PROJECT-25461276, KAKENHI-PROJECT-25461278
  • [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.2015

    • 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 Pages: 7132-7132

    • DOI
      10.1038/srep07132
    • Peer Reviewed / Open Access / Acknowledgement Compliant
    • 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] A Japanese case of cerebellar ataxia, spastic paraparesis, and deep sensory impairment associated with a novel homozygous TTC19 mutation.2015

    • 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

      Journal of Human Genetics

      Volume: 60 Pages: 187-191

    • DOI
      10.1038/jhg.2015.7
    • Peer Reviewed / Open Access / Acknowledgement Compliant
    • 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] 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 epilepsy.2013

    • 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 Pages: 552-3

    • 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] Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.2013

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

      Clinical Genetics

      Volume: (in press) 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] 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 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 and related disorders.2013

    • 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 Pages: 113-115

    • DOI
      10.1038/jhg.2012.117
    • 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 patients showing cerebellar and/or vermis atrophy in childhood2013

    • 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

      Neurogenetics.

      Volume: 14 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 decompensation.2013

    • 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 Mutat

      Volume: 34(3):446-452 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 similar to microphthalmia with limb anomalies2013

    • 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 A.

      Volume: 161A 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 myopathy.2013

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

      Am J Hum Genet.

      Volume: 93 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

    • 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

    • 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

    • 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.2012

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

      Clin. Genet.

      Volume: 81(4):399-402 Pages: 399-402

    • 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] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly.2012

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

      Am. J. Hum. Genet.

      Volume: 90 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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.2012

    • 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 Pages: 197-201

    • DOI
      10.1038/jhg.2012.4
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001
  • [Journal Article] A girl with early-onset epileptic encephalopathy associated with microde letion involving CDKL52012

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

      Brain Dev.

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

    • DOI
      10.1016/j.braindev.2011.07.004
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Homozygous c.14576GA variant of RNF213 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) 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 syndrome2012

    • 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 Pages: 207-11

    • DOI
      10.1038/jhg.2012.7
    • 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] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).2012

    • 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

      Volume: (in press) Pages: 199-205

    • 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] 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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24790893
  • [Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy2012

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

      Am J Hum Genet

      Volume: 89 Pages: 29-43

    • 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] CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia2012

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

      Epilepsia.

      Volume: 53(8):1441-1449 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 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

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

      Neurogenet.

      Volume: 13 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 syndrome.2012

    • 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 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-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.14576GA variant in2012

    • Author(s)
      Miyatake S
    • Journal Title

      J Hum Genet

      Volume: 57 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 sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome2012

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

      Ann. Neurol.

      Volume: 72(2):298-300 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] 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 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 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 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 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 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 Pages: 343-347

    • DOI
      10.1038/jhg.2011.16
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22790823
  • [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
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