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Tsuji Shoji  辻 省次

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TSUJI Shoji  辻 省次

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Researcher Number 70150612
Other IDs
External Links
Affiliation (Current) 2025: 国際医療福祉大学, ゲノム医学研究所, 教授
2025: 国際医療福祉大学, 医学部, 教授
2025: 東京大学, 医学部附属病院, 病院診療医(出向)
Affiliation (based on the past Project Information) *help 2023 – 2024: 国際医療福祉大学, ゲノム医学研究所, 教授
2019 – 2022: 国際医療福祉大学, 医学部, 教授
2017: 東京大学, 医学系研究科, 特任教授
2002 – 2016: 東京大学, 医学部附属病院, 教授
2015: 東京大学, 医学部, 教授 … More
2008: 東京大学, 医学部・神経内科, 教授
2006: 東京大学, 大学院医学系研究科, 教授
2002 – 2005: 東京大学, 大学院・医学系研究科, 教授
2002: The University of Tokyo, Graduate School of Medicine, Neuroscience Division, Neurology, Professor, 医学系研究科, 教授
1991 – 2001: 新潟大学, 脳研究所, 教授
1994 – 1995: Brain Research Institute, Niigata University, Professor, 脳研究所・神経内科, 教授
1993 – 1994: 新潟大学, 医学部, 教授
1993: 新潟大学, 脳研究所(神経内科学), 教授
1993: Brain Research Institute, Niigata University, Dept of Neurology, Prof., 脳研究所・神経内科学, 教授
1993: 新潟大学, 脳研究所神経内科学, 教授
1991 – 1992: 新潟大学, 脳研究所・神経内科, 教授
1987 – 1990: 新潟大学, 医学部附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Neurology / Neurology / Biological Sciences / Basic Section 48040:Medical biochemistry-related / Biological Sciences
Except Principal Investigator
Neurology / Biological Sciences / Psychiatric science / Neurology / Pediatrics / Perception information processing/Intelligent robotics / Molecular biology
Keywords
Principal Investigator
CAG repeat / 脊髄小脳変性症 / ゲノム / トランスジェニックマウス / CAGリピート / 神経変性疾患 / neurodegeneration / spinocerebellar degeneration / triplet repeat / PCR … More / 分子遺伝学 / 遺伝子 / アルツハイマー病 / DNA chip / DNA microarray / resequencing / DNA repair / ocular motor apraxia / aprataxin / cDNA / transcriptional dysregulation / 遺伝性神経変性疾患 / 転写障害 / ポリグルタミン病 / SOD1 / Cu / apoptosis / dentatorubral-pallidoluysian atrophy / 凝集体 / 歯状核赤核・淡蒼球ルイ体萎縮症 / トリプレットリピート / cDNA library / neurodegenerative diseases / subtractive cloning / ゲノムインフォマティクス / シーケンサー / インフォマティクス / 脳疾患 / 個人ゲノム / パーキンソン病 / 多型解析 / 疾患関連遺伝子 / 第14染色体 / 連鎖解析 / ポジショナルクローニング / positional cloning / X染色体 / ロングリードシーケンス / ロングリードシーケンスア / 伸長リピート配列 / exome解析 / 関連解析 / rare variant / リスク遺伝子 / 低頻度バリアント / rare variants / Alzheimer disease / association study / biotechnology / gene / nervous disease / genome / Microarray / バイオテクノロジー / 神経疾患 / マイクロアレイ / molecular genetics / disease-associated genes / Parkinson disease / DNA micro array / 分子遺伝子 / 疾患関連 / DNAチップ / DNAマイクロアレイ / cerebellum / liypoalbuminemia / single strand DNA break / hypoalbuminemia / hypoalbuminenia / DNA Repair / spinoxerebellar degeneration / 小脳 / 低アルブミン血症 / 眼球運動失行 / XRCC1 / アプラタキシン / 一本鎖DNA修復 / DNA修復 / hereditary neurodegenerative diseases / spinocerebellar ataxia / polygjutemine diseases / ポリグルタミシ病 / radiation hybrid panel / expression profiling / CREB-dependent transcriptional activation / cAMP-responsive gene / nuclear accumulation / polyglutamine diseases / TAFII130 / 神経細胞死 / 転写因子 / c-fos / CREB-依存性転写活性化 / animal model / transcription / polyglutamine disease / molecular mechanism / 歯状核赤核・淡倉球ルイ体萎縮症 / 遺伝子発現プロファイリング / CREB依存性転写活性化 / cAMP依存性遺伝病 / 核内集積 / transgenic mouse / aggregate bodies / Zn superoxide dismutase / conformational disease / motor neuron diseases / amyotrophic lateral sclerosis / familial ALS / conformation / inclusion body / Lewy body / ALS(amyotrophic lateral sclerosis) / 神経細胞変性 / Znスーパーオキシドディスムターゼ / コンフォメーション病 / 運動ニューロン疾患 / 筋萎縮性側索硬化症 / nuclear inclusion / aggregate body / transglutaminase / polyglutamine / CAG repeat disease / 脊髄小脳変性症2型 / 核内封入体 / トランスグルタミナーゼ / アポトーシス / ポリグルタミン / CAGリピート病 / Animal models / Genomic instability / Somatic mosaicism / Embryonic stem cell / Transgenic mouse / Triplet repeat / Spinocerebellar degeneration / gene targetting / 遺伝性疾患 / 動物モデル / ゲノムの不安定性 / 体細胞モザイク / 胚性幹細胞 / chromosome 9 / chromosome 12 / chromosome 14 / dentatorubral-pallidolyusian atrophy / Machado-Joseph disease / 細胞バンク / hetergernous nuclear RNA / ゲノム解析 / 発現遺伝子地図 / コスミドクローン / 副腎白質ジストロフィー / 第9染色体 / 第12染色体 / 歯状核赤核淡蒼球ルイ体萎縮症 / Machado-Joseph病 / Linkage analysis / Molecular cloning / Spinal cord / Brain / Nervous system / Neurodegenerative diseases / アルツハイマ-病 / 脊髄 / メッセンジャ-RNA / 組織特異的遺伝子発現 / サブトラクションクロ-ニング / 運動ニュ-ロン / cDNAライブラリ- / 変性性神経疾患 / linkage analysis / molecular cloning / spinal cord / brain / nervous system / 遺伝子変位 / ゴーシェ病 / サンドホフ病 / スフィンゴリピドーシス / ミトコンドリア機能 / shojitsuji-tky / 神経分子病態学 / ミトコンドリア / coenzyme Q10 / フラックスアナライザー / COQ2 / 多系統萎縮症 / 傍腫瘍性症候群 / プロファイリング / 自己抗体 / 免疫性神経疾患 / プロテインアレイ / 神経病態免疫学 / Gaucher 病 / Gaucher病 / 疾患感受性遺伝子 / 孤発性疾患 / 神経変性 / 相関解析 / 連鎖漢籍 / 脳血管障害 / 脳・神経 / 遺伝学 / 脳神経疾患 / ゲノムインフォーマティックス / 遺伝医学 / 生命倫理 / ゲノムインフォーマティック / 病原微生物 / 有用微生物 / 社会医学 / 微生物 / 臨床 / 産業微生物ゲノム / 微生物ゲノム / メディカルインフォマティクス / ヒトゲノム配列再解析 / ゲノムワイド関連解析 / 神経原線維変化 / 第21染色体 / アポリポタンパクE4 / 神経成長抑制因子 / アミロイド前駆体タンパク / ダウン症 / アミロイド / アポリポタンパクE / 家族性アルツハイマー病 / cDNA cloning / heterogenous nuclear RNA / 副腎白質ジストロフィ- / Xq28 … More
Except Principal Investigator
連鎖解析 / 遺伝子 / アルツハイマー病 / Alzheimer's disease / Adrenoleukodystrophy / てんかん / ゲノム / 脊髄小脳変性症 / X染色体 / cDNA / DRPLA / ハンチントン病 / 神経栄養因子 / タウ蛋白 / 家系調査 / 熱性けいれん / 筋萎縮性側索硬化症 / 神経変性疾患 / SCA5 / 副腎白質ジストロフィー / リソソーム / β-グルコシダーゼ / グルコセレブロシダーゼ / 老年痴呆 / Plasticity of the neuron / Higher cortical function / Polyglutamine diseases / Spinal and bulbar muscular atrophy / BDNF and visual center / Guidance molecules / Neurogenesis / 傍腫瘍性神経症候群 / HLA class I / cytotoxic T cell / recombinant HuD protein / paraneoplastic / B10 / ALDP gene / 遺伝子解析 / 遺伝学 / Xq28 / hn cDNA / CpG Island / Linking Clone / Reverse Genetics / リシーケンシング / 次世代DNAシーケンサー / グアム島 / パーキンソン症候群 / 認知症 / パーキンソン認知症複合 / 紀伊半島 / ion channel / gene / Epilepsy / 脳神経疾患 / 神経科学 / データベース / ゲノム機能解析 / ポリグルタミン病 / 神経細胞死 / 福山型先天性ジストロフィー / apolipoprotein E / Alzheimer病 / マイクロサテライト多型 / 遺伝性小脳皮質萎縮症 / 選別輸送 / 神経成長因子 / 神経原線維変化 / 家族性アルツハイマー病 / ポジショナルクローニング / CAGリピート / マシャド・ジョセフ病 / 成長抑制因子 / ゲノムアノテーション / メタゲノム / ゲノム多型 / ゲノムアッセンブル / スーパーコンピューター / メタゲノム解析 / 1細胞解析 / RNA-Seq / エピゲノム / 新規ゲノム配列決定 / 国際情報交換 (米国) / 国際研究者交流 (米国) / 痴呆 / 環境 / 難病 / 次世代シークエンサー / 発現プロファイル / 急性リンパ性白血病 / エクソーム解析 / 発現アレイ / アレイCGH / 急性白血病 / ETV6遺伝子 / 胚細胞変異 / 家族性 / 白血病 / Molecular cloning / Sphingolipidosis / Sialidase / Sialidosis / ライソソーム / cDNAクローニング / 遺伝子異常 / 分子遺伝学 / スフィンゴリピドーシス / シアリドーシス / シアリダーゼ / Body Model Parameter Identification / Muscle Tension Database / Motion Simulation / Rehabilitation / Neurology / Noninvasive Motion Measurement / Somatic Reflex / Neuro-Musculoskeletal Model / 運動解析 / リンクパラメータ / 関節パラメータ / 筋パラメータ / 動力学計算 / 低侵襲運動計測 / 運動データベース / 運動最適化 / マーカレス運動計測 / 運動計測 / 筋骨格モデル / 筋張カデータベース / 身体モデルパラメータ同定 / 筋張力データベース / 運動シミュレーション / リハビリテーション / 非侵襲運動計測 / 体性反射 / 神経筋骨格モデル / recombinant antigen protein / anti-neuronal antibody / paraneopolastlc neurological syndrome / 融合蛋白 / 融合蛋白抗原 / 抗神経抗体 / Functions of mutated epilepsy genes / Channelopathy / Febrile seizure plus / Benign adult familial myoclonic epilepsy / Benign familial neonatal convulsions / Autosomal dominant nocturnal frontal lobe epilepsy / Chorea-acanthocytosis / Severe myoclonic epilepsy in infancy / BFNC / Juvenile myoclonic epilepsy / Chorein / GABA receptor / SCN2A / SCN1A / GEFS+ / 神経回路網 / polyglutamine / FTDP-17 / アミロイド / シナプス / 神経幹細胞 / 視床 / 運転前野 / Friedreich様失調症 / Parkin / アミロイド前駆体 / 運動前野 / 去勢 / SBMA / ガンマセクレターゼ / 膜内切断 / 神経伝達 / ガイダンス分子 / 神経発生 / 行動制御機構 / γセクレターゼ / 高次機能 / 治療 / 遺伝的危険因子 / 画像化 / 沈黙シナプス / 神経軸索伸長 / システム回路とモデル / 神経可塑性 / 脳の発生・発達 / T cell receptor(TCR) / major histocompatibility antigen / cytotoxic T cell(CTL) / anti-Hu antibody / anti-Yo antibody / paraneoplastic neurological syndrome / T細胞受容体(TCR) / 主要組織適合抗原(MHC) / 細胞傷害性T細胞(CTL) / 抗Hu抗体 / 抗Yo抗体 / benign adult familial myoclonic epilepsy / benign familial neonatal convulsions / autosomal dominant nocturnal frontal lobe epilepsy / Epilepsy genes / axonography / diffusion-weighted image / MRI / 拡散強調画像 / 磁気共鳴軸索画像 / microinjection / recombinant Yo protein / microiniection / HLA,class I / 細胞内注射 / HLAクラスI / 細胞障害性T細胞 / リコンビナ-トHuD蛋白 / 傍腫瘍性 / SCAN method / Endometrial Cancer / Early onset ataxia / Hereditary defness DFNB8 / Whole Sequence / Chromosome 11 / Chromosome 22 / Chromosome 21 / 改良型SSCP法 / 福山型筋ジストロフィー / SCA2遺伝子 / HLA遺伝子群 / 免疫グロブリン遺伝子 / ダウン症必須領域 / 11番染色体物理地図 / 高速大規模プラスミド調整機 / 変異検出法 / 自己免疫疾患APECED / MHCクラスI領域 / シークエンス地図 / 11q13領域 / Transcriptional sequencing / SKY法の改良 / PLACE-SSCP / HLAクラス1遺伝子群 / シークエンス解析 / S番染色体特異的BACクローン / ヒト11q22-23領域 / SKY法 / がん抑制遺伝子 / Bardet-Biedl症候群 / TGFβ1遺伝子 / 進行性骨異形症 / ヒト21番染色体 / 11q23 / Sotos症候群 / 遺伝性聾DFNB8・B10 / ドラフトシーケンス / 染色体カラーバンディング法 / 子宮体癌 / 遺伝性脊髄小脳変性症 / 遺伝性聾DFNB8 / 全塩基配列 / 11番染色体 / 22番染色体 / 21番染色体 / chromosome / linkage analysis / febrile convulsions / epilepsy / 遺伝形式 / 染色体 / Database / Yeast genome / Analysis of B.subtilis / Human genome / Genome informatics / Functional analysis / Structural analyzes / Genome research / 酵母ゲノム / 枯草菌ゲノム解析 / ヒトゲノム / ゲノム情報解析 / ゲノム構造解析 / ゲノム研究 / Mutational analysis / X-chromosome / mutational analysis / gene analysis / DNA diagnosis / neuronal cell death / neurotrophic factors / molecular mechanisms / senile dementia / βアミロイド前駆蛋白 / β蛋白 / Abeta蛋白 / 老人斑 / PHF / アポEたんぱく / タウたんぱく / ベータたんぱく / 細胞死 / 遺伝子診断 / 分子機構 / Metal responsive-element / Gene targeting / Metallothionein / Growth inhibitory factor (GIF) / Alzheimer's diseaase / gene targetting / 神経成長抑制因子 / cDNAクロ-ニング / ジーン・ターゲティング / 金属反応部位 / メタロチオネイン / 神経成長抑制因子(GIF) / XQ28 / X CHROMOSOME / ADRENOLEUKODYSTROPHY / COSMID CLONES / POSITIONAL CLONING / REVERSE GENETICS / HEREDITARY NEURODEGENERATIVE DISEASE / Xg28 / ポジショナルクロ-ニング / リバ-スジェネティックス / クロ-ニング / 副賢白質ジストロフィー / コスミドクローン / リバースジュネティックス / 遺伝性神経疾患 / Very Long Chain Fatty Acid / Human X Chromosome / Color Pigment Gene / Transcribed Sequences / DNAマ-カ- / パルスフィ-ルド電気泳動 / cDNAライブラリ- / メッセンジャ-RNA / リバ-ス・ジェネティックス / 副腎白質ジストロフィ- / ヒトX染色体 / transcribed sequences / CpG island / linking clone / reverse genetics / 極長鎖脂肪酸 / ヒトx染色体 / 色覚蛋白遺伝子 / Transcribed sequences / 次世代DNAシーケンサ / インフォームドコンセント / GWAS / 個人ゲノム / de novo配列決定 / ChIP-seq / RNA-seq / タウオパチー / 酸化ストレス / TDP-43 / アルツハイマー神経原線維変化 / 多施設共同研究 / ヒト試料 / 匿名化 / 履行補助者 / インフォームド・コンセント / ゲノム医学研究 / 遺伝子タイピング / transporter / treatment / receptor / CYP / polymorohism / 個別化治療 / 脳神経疾愚 / 脳神経学 / シグナル伝達 / 疾患遺伝子 / 微生物 / 進化 / 生体生命情報学 / ヒト多型タイピング / トランスクリプトーム / DNAシーケンシング / システム生物学 / ゲノムオントロジー / 表現型解析 / 遺伝子ネットワーク / バイオインフォマティクス / 生命シミュレーション / 生命システム / 歯状核赤核淡蒼球ルイ体萎縮症 / 分子医学 / マシャドジュセフ病 / 脊髄性筋萎縮症 / 小脳変性疾患 / トリプレットリピート病 / ダイナミックミューテーション / トリプレットリピートインスタビリティー / ポリグルタミン酸 / MJD / トリブレットリピートインスタビリティー / NAIP / アポトーシス / Caチャンネル / 第19染色体 / SCA6 / Holemes / 皮質性小脳萎縮症 / VLDL / GTPシクロビロラーゼI / 瀬川病 / SCA2 / 蛋白リン酸化 / アミロイドβ蛋白 / Kanzaki病 / Shindler病 / α-N-acetylgalactosaminidase / 結合蛋白質 / 偽遺伝子 / リン酸化 / アミロイド前駆体蛋白 / アルツハイマー型老年痴呆 / heterogenous nucler RNA / 組織特異的遺伝子発現 / コスミドcontig / 偽遺伝子発現 / 第四染色体 / ミトコンドリアDNAの点変異 / ミトコンドリアDNAの欠失 / 1-メチル-TIQ / テトラハイドロイソキノリン(TIQ) / 外因・内因説 / エネルギークライシス / ミトンドリア欠失 / ミトコンドリア点変異 / パーキンソン病 / 三塩基リピート / 歯状核・赤核・淡蒼球・ルイ体萎縮 / Machado Josseph病 / mitochondria / energy crisis / parkinson病 / hereditary progressive dystonia / Machado-Joseph病 / neuronal death / ジョセフ病 / 福山型先天性筋ジストロフィー / アミロイド蛋白 / アルツハイマ-病 Less
  • Research Projects

    (63 results)
  • Research Products

    (238 results)
  • Co-Researchers

    (254 People)
  •  comprehensive search for expanded repeats in neurodegenerative diseaessPrincipal Investigator

    • Principal Investigator
      辻 省次
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      International University of Health and Welfare
  •  Exploring rare variants associated with Alzheimer diseasePrincipal Investigator

    • Principal Investigator
      Tsuji Shoji
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      International University of Health and Welfare
  •  Platform for Advanced Genome Science

    • Principal Investigator
      KOHARA Yuji
    • Project Period (FY)
      2016 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas ― Platforms for Advanced Technologies and Research Resources
    • Research Institution
      National Institute of Genetics
  •  Elucidation of molecular mechanisms and development of surrogate markers for multiple system atrophy caused by COQ2 mutationsPrincipal Investigator

    • Principal Investigator
      Tsuji Shoji
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  Identification of causative genes in familial acute lymphoblastic leukemia

    • Principal Investigator
      Moritake Hiroshi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      University of Miyazaki
  •  Common environmental and genetic factors of ALS/PDC between Kii and Guam

    • Principal Investigator
      KOKUBO YASUMASA
    • Project Period (FY)
      2013 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Mie University
  •  Elucidation of molecular basis and therapeutic strategy of immune-mediated neurological diseases based on comprehensive analysis of autoantibodiesPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  elucidation of mechanisms of brain diseases based on personal genome informationPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • 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
      The University of Tokyo
  •  Elucidation of molecular bases of brain diseases based on personal genome informationPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • 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
      The University of Tokyo
  •  Platform of large scale and high quality genomics and bioinformatics: Towards the advancement of genome sciences in academia

    • Principal Investigator
      KOHARA Yuji
    • Project Period (FY)
      2010 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Research Institution
      National Institute of Genetics
  •  Personal genome-based initiatives toward understanding bran diseasesArea Organizer

    • Area Organizer
      TSUJI Shoji
    • Project Period (FY)
      2010 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Research Institution
      The University of Tokyo
  •  Elucidation of molecular mechanisms of Parkinson disease based on comprehensive nucleotide sequence analysis of glucocerebrosidase gene.Principal Investigator

    • Principal Investigator
      TSUJI Syoji
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  Molecular biological study on the cause and pathogenesis of amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan

    • Principal Investigator
      KUZUHARA Shigeki
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      National Center of Neurology and Psychiatry
      Mie University
  •  Development of a comprehensive molecular diagnosis system for neurological diseases based on DNAmicroarrays.Principal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  Genome medical research supporting committee

    • Principal Investigator
      HATA Akira
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Chiba University
  •  Elucidation of molecular mechanisms of neurological diseases based on genome analysisPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  Development of Methods for Assisting Diagnosis and Rehabilitation of Neuromuscular Disorders based on Musculoskeletal Dynamics Computation

    • Principal Investigator
      YAMANE Katsu
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Perception information processing/Intelligent robotics
    • Research Institution
      The University of Tokyo
  •  Systems genomics towards system-level understanding of life

    • Principal Investigator
      TAKAGI Toshihisa
    • Project Period (FY)
      2004 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  Applied GenomicsPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2004 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
  •  Comprehensive genomics towards the frontiers of biology and med

    • Principal Investigator
      KOHARA Yuji
    • Project Period (FY)
      2004 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      National Institute of Genetics
  •  Analysis of molecular biology of epilepsy

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      2004 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Research Field
      Neurology
    • Research Institution
      Hirosaki University
  •  Development of DNA microarray-based reseqeuncing system for neurological diseases.Principal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  Identified the causative gene for EAOH end elucidation the molecular mechanisms of neurodegeneration in EAOHPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      The University of Tokyo
  •  Establishment of diagnostic procedures for paraneoplastic neurological syndrome with specific-antineuronal antibodies, and the study for the pathomechanisms of paraneoplastic neurological syndrome

    • Principal Investigator
      TANAKA Keiko
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      NIIGATA UNIVERSITY
  •  単一遺伝子異常による神経細胞死

    • Principal Investigator
      池田 穣衛 (池田 穰衛)
    • Project Period (FY)
      2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (A)
    • Research Institution
      Tokai University
  •  Advanced Brain Science Project

    • Principal Investigator
      IHARA Yasuo
    • Project Period (FY)
      2000 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      University of Tokyo
  •  Molecular mechanisms of neurodegenerationPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2000 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      The University of Tokyo
      Niigata University
  •  Elucidation of molecular mechanisms of neurodegenerative diseases caused by expansion of CAG repeatsPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      NIIGATA UNIVERSITY
  •  Genetic study of epilepsies and febrile convulsions

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Hirosaki University
  •  Pathomechanisms of paraneoplastic neurological syndrome-neuronal damege mediated by cytotoxic T cells

    • Principal Investigator
      TANAKA Keiko
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      NIIGATA UNIVERSITY
  •  Elucidation of molecular mechanisms of amyotrophic lateral sclerosisPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  Quantitative analysis of neuronal density in Alzheimer's disease by MR axonography

    • Principal Investigator
      NAKADA Tsutomu
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  Genetic study of epilepsies and febrile convulsions

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      1997 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Psychiatric science
    • Research Institution
      Hirosaki University
  •  遺伝性神経疾患の病的遺伝子の解明

    • Principal Investigator
      金澤 一郎
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      The University of Tokyo
  •  遺伝性脊髄小脳変性症の病的遺伝子の解明

    • Principal Investigator
      水澤 英洋
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Tokyo Medical and Dental University
  •  Human Genome Analysis

    • Principal Investigator
      OHKI Misao
    • Project Period (FY)
      1996 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (A)
    • Research Institution
      National Cancer Center Research Institute
  •  Development of therapeutic measures for triplet repeat diseasesPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata university
  •  Cytotoxic T cell mediated paraneoplastic neurological syndromes

    • Principal Investigator
      TANAKA Keiko
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  遺伝性脊髄小脳変性症の病的遺伝子の解明

    • Principal Investigator
      水澤 英洋
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      University of Tsukuba
  •  Japan-French Joint Research on Genome

    • Principal Investigator
      MATSUBARA Kenichi
    • Project Period (FY)
      1995 – 1997
    • Research Category
      Grant-in-Aid for international Scientific Research
    • Research Field
      Molecular biology
    • Research Institution
      International Institute for Advanced Studies
      Osaka University
  •  Genetic study epilepsies and febrile convulsions

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Hirosaki University
  •  マンノース6-燐酸非依存性のリソソーム酵素の識別機構

    • Principal Investigator
      今井 勝行
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Shimane Medical University
  •  糖鎖分解酵素遺伝子の機能障害の解析と動物モデル作製による糖鎖遺伝子情報の解析

    • Principal Investigator
      TANAKA Hajime
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Niigata University
  •  遺伝生脊髄小脳変性症の病的遺伝子の解明

    • Principal Investigator
      水澤 英洋
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      University of Tsukuba
  •  Elucidation of molecular mechanisms of spinocerebellar degeneration through positional cloning of causative genes and development of the animal models.Principal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  神経細胞死とその修復の分子生物学

    • Principal Investigator
      金澤 一郎
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      The University of Tokyo
  •  マンノース6-リン酸非依存性のリソソーム酵素の識別機構

    • Principal Investigator
      今井 勝行
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Shimane Medical University
  •  SEARCH FOR GENETIC ABNORMALITIES OF X-LINKED NEUROLOGICAL DISEASE

    • Principal Investigator
      KOIKE Ryoko
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  マンノース6-リン酸非依存性のリソソーム酵素の識別機構

    • Principal Investigator
      今井 勝行
    • Project Period (FY)
      1992
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Shimane Medical University
  •  副腎白質ジストロフィー遺伝子の解明

    • Principal Investigator
      KOIKE Ryoko
    • Project Period (FY)
      1992
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Niigata University
  •  老年痴呆の分子機構

    • Principal Investigator
      立石 潤, 宮武 正
    • Project Period (FY)
      1992 – 1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Kyushu University
      Tokyo Medical and Dental University
  •  アルツハイマー病の分子遺伝学的研究Principal Investigator

    • Principal Investigator
      辻 省次
    • Project Period (FY)
      1992 – 1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Niigata University
  •  MOolecular mechanism of senile dementia. -summary of research-

    • Principal Investigator
      TATEISHI Jun
    • Project Period (FY)
      1992 – 1995
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      KYUSHU UNIVERSITY
  •  Elucidation of molecular mechanisms of hereditary neurologic diseases by positional cloningPrincipal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  副腎白質ジストロフィ-遺伝子の解明Principal Investigator

    • Principal Investigator
      辻 省次
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Niigata University
  •  老年痴呆の分子機構

    • Principal Investigator
      宮武 正
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for Co-operative Research (B)
    • Research Institution
      Tokyo Medical and Dental University
  •  神経難病における神経細胞死の機序と修復・防御

    • Principal Investigator
      吉田 充男
    • Project Period (FY)
      1991 – 1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Jichi Medical University
  •  POSITIONAL CLONING OF CANDIDATE GENES

    • Principal Investigator
      MIYATAKE Tadashi
    • Project Period (FY)
      1991 – 1992
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      TOKYO MEDICAL AND DENTAL UNIVERSITY
  •  Molecular biology for Alzheimer's disease

    • Principal Investigator
      YUASA Tatsuhiko, 宮武 正
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for Developmental Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Tokyo Medical and Dental University
  •  Molecular Genetic Study on Adrenoleukodystrophy

    • Principal Investigator
      MIYATAKE Tadashi
    • Project Period (FY)
      1989 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  Molecular Biological Studies on the Etiology of Neurodegenerative Diseases.Principal Investigator

    • Principal Investigator
      TSUJI Shoji
    • Project Period (FY)
      1989 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  スフィンゴリピドーシスの遺伝子異常の解析・Principal Investigator

    • Principal Investigator
      辻 省次
    • Project Period (FY)
      1988
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Niigata University
  •  Molecular biological studies on etiologies of hereditary neurological diseases.

    • Principal Investigator
      MIYATAKE Tadashi
    • Project Period (FY)
      1987 – 1988
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Niigata University

All 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Patent Other

  • [Journal Article] Glacier Retreat Results in Loss of Fungal Diversity2022

    • Author(s)
      Masaharu Tsuji, Warwick F. Vincent, Yukiko Tanabe, Masaki Uchida
    • Journal Title

      Sustainability

      Volume: 14 Pages: 1617-1617

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis2022

    • Author(s)
      Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Iago Pinal-Fernandez, Andrew L Mammen, Thomas E Lloyd , Shoji Tsuji, Jun Shimizu, Tatsushi Toda, Jun Goto
    • Journal Title

      Ann Neurol.

      Volume: 91 Issue: 3 Pages: 317-328

    • DOI

      10.1002/ana.26304

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07956, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20H00526
  • [Journal Article] Genomic prediction modeling of soybean biomass using UAV-based remote sensing and longitudinal model parameters2021

    • Author(s)
      Yusuke Toda, Akito Kaga, Hiromi Kajiya-Kanegae, Tomohiro Hattori, Shuhei Yamaoka, Masanori Okamoto, Hisashi Tsujimoto, Hiroyoshi Iwata
    • Journal Title

      The Plant Genome

      Volume: 14 Issue: 3

    • DOI

      10.1002/tpg2.20157

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP- Smad signaling2021

    • Author(s)
      Nakashima H., Tsujimura K., Irie K., Imamura T., Trujillo CA., Ishizu M., Uesaka M., Pan M., Noguchi H., Okata K., Aoyagi K., Ando-Noda T., Okano H., Muotri AR., Nakashima K.
    • Journal Title

      Cell Reports

    • Description
      in press
    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP-Smad signaling2021

    • Author(s)
      Nakashima Hideyuki、Tsujimura Keita、Irie Koichiro、Imamura Takuya、Trujillo Cleber A.、Ishizu Masataka、Uesaka Masahiro、Pan Miao、Noguchi Hirofumi、Okada Kanako、Aoyagi Kei、Andoh-Noda Tomoko、Okano Hideyuki、Muotri Alysson R.、Nakashima Kinichi
    • Journal Title

      Cell Reports

      Volume: 35 Issue: 7 Pages: 109124-109124

    • DOI

      10.1016/j.celrep.2021.109124

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-INTERNATIONAL-16K21734, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19K16918
  • [Journal Article] ATG8 is conserved between Saccharomyces cerevisiae and psychrophilic, polar-collected fungi2021

    • Author(s)
      Ivory, BJ; Smith, HM; Cabrera E, Robinson MR, Sparks JT, Solem A, Ishihara Ji, Takahashi H, Tsuji M, Segarra VA
    • Journal Title

      microPub Biology

      Pages: 446-446

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Comparative Genomic Analysis of Arctic Permafrost Bacterium Nesterenkonia sp. PF2B19 to Gain Insights into Its Cold Adaptation Tactic and Diverse Biotechnological Potential2021

    • Author(s)
      Purnima Singh, Neelam Kapse, Vasudevan Gowdaman, Masaharu Tsuji, Shiv Mohan Singh, Prashant K. Dhakephalkar
    • Journal Title

      Sustainability

      Volume: 13 Pages: 4590-4590

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Free-Energy Calculation of Ribonucleic Inosines and Its Application to Nearest-Neighbor Parameters2020

    • Author(s)
      Sakuraba Shun、Iwakiri Junichi、Hamada Michiaki、Kameda Tomoshi、Tsuji Genichiro、Kimura Yasuaki、Abe Hiroshi、Asai Kiyoshi
    • Journal Title

      Journal of Chemical Theory and Computation

      Volume: 16 Issue: 9 Pages: 5923-5935

    • DOI

      10.1021/acs.jctc.0c00270

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K12041, KAKENHI-PUBLICLY-19H05410, KAKENHI-PROJECT-16H06279
  • [Journal Article] Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population2020

    • Author(s)
      Naruse Hiroya、Ishiura Hiroyuki、Mitsui Jun、Takahashi Yuji、Matsukawa Takashi、Yoshimura Jun、Doi Koichiro、Morishita Shinichi、Goto Jun、Toda Tatsushi、Tsuji Shoji
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 3 Pages: 237-241

    • DOI

      10.1038/s10038-020-00830-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19J01720, KAKENHI-PROJECT-16H06279
  • [Journal Article] RNA interference-independent reprogramming of DNA methylation in Arabidopsis2020

    • Author(s)
      To Taiko Kim、Nishizawa Yuichiro、Inagaki Soichi、Tarutani Yoshiaki、Tominaga Sayaka、Toyoda Atsushi、Fujiyama Asao、Berger Frederic、Kakutani Tetsuji
    • Journal Title

      Nature Plants

      Volume: 6 Issue: 12 Pages: 1455-1467

    • DOI

      10.1038/s41477-020-00810-z

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-19H05740, KAKENHI-PLANNED-20H05913, KAKENHI-PROJECT-17K15059, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19H00995
  • [Journal Article] Soil Yeasts in the Vicinity of Syowa Station, East Antarctica : Their Diversity and Extracellular Enzymes, Cold Adaptation Strategies, and Secondary Metabolites2020

    • Author(s)
      Masaharu Tsuji, Sakae Kudoh
    • Journal Title

      Sustainability

      Volume: 12 Issue: 11 Pages: 4518-4518

    • DOI

      10.3390/su12114518

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Comprehensive Investigation of RNF213 Nonsynonymous Variants Associated with Intracranial Artery Stenosis2020

    • Author(s)
      Hongo H, Miyawaki S, Imai H, Shimizu M, Yagi S, Mitsui J, Ishiura H, Yoshimura J, Doi K, Qu W, Teranishi Y, Okano A, Ono H, Nakatomi H, Shimizu T, Morishita S, Tsuji S, and Saito N
    • Journal Title

      Scientific reports

      Volume: 10(1) Issue: 1 Pages: 11942-11942

    • DOI

      10.1038/s41598-020-68888-1

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-17H04301, KAKENHI-PROJECT-19J12355, KAKENHI-PROJECT-16H06279
  • [Journal Article] Contrasting Patterns of Microbial Communities in Glacier Cryoconite of Nepali Himalaya and Greenland, Arctic2020

    • Author(s)
      Purnima Singh, Masaharu Tsuji, Shiv Mohan Singh, Nozomu Takeuchi
    • Journal Title

      Sustainability

      Volume: 12 Issue: 16 Pages: 6477-6477

    • DOI

      10.3390/su12166477

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19H01143
  • [Journal Article] VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia2020

    • Author(s)
      Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
    • Journal Title

      Mol Genet Genomic Med

      Volume: 8 Issue: 3

    • DOI

      10.1002/mgg3.1108

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324, KAKENHI-PROJECT-16H06279
  • [Journal Article] CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.2020

    • Author(s)
      Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
    • Journal Title

      Eur J Med Genet.

      Volume: 63 Issue: 1 Pages: 103610-103610

    • DOI

      10.1016/j.ejmg.2018.12.015

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.2020

    • Author(s)
      Teranishi Y.、Miyawaki S.、Hongo H.、Dofuku S.、Okano A.、Takayanagi S.、Ota T.、Yoshimura J.、Qu W.、Mitsui J.、Nakatomi H.、Morishita S.、Tsuji S.、Saito N.
    • Journal Title

      J Med Genet

      Volume: なし Issue: 10 Pages: 701-711

    • DOI

      10.1136/jmedgenet-2020-106973

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H04301, KAKENHI-PROJECT-19K24023, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20K17954, KAKENHI-PROJECT-19K09473
  • [Journal Article] Profibrotic function of pulmonary group 2 innate lymphoid cells is controlled by regnase-12020

    • Author(s)
      Nakatsuka Yoshinari、Yaku Ai、Handa Tomohiro、Vandenbon Alexis、Hikichi Yuki、Motomura Yasutaka、Sato Ayuko、Yoshinaga Masanori、Tanizawa Kiminobu、Watanabe Kizuku、Hirai Toyohiro、Chin Kazuo、Suzuki Yutaka、Uehata Takuya、Mino Takashi、Tsujimura Tohru、Moro Kazuyo、Takeuchi Osamu
    • Journal Title

      European Respiratory Journal

      Volume: 57 Issue: 3 Pages: 2000018-2000018

    • DOI

      10.1183/13993003.00018-2020

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18H05278, KAKENHI-PROJECT-18H05286, KAKENHI-PROJECT-19H03488, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20K22737, KAKENHI-PROJECT-18K15185
  • [Journal Article] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease2019

    • Author(s)
      Ishiura Hiroyuki、Shibata Shota、Yoshimura Jun、Suzuki YutaMano Tatsuo、Iwata Atsushi、Toda Tatsushi、Morishita Shinichi、Tsuji Shoji、et al
    • Journal Title

      Nature Genetics

      Volume: 51 Issue: 8 Pages: 1222-1232

    • DOI

      10.1038/s41588-019-0458-z

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K17027, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19H00597
  • [Journal Article] Pulmonary Regnase-1 orchestrates the interplay of epithelium and adaptive immune systems to protect against pneumonia2018

    • Author(s)
      Nakatsuka Yoshinari、Vandenbon Alexis、Mino Takashi、Yoshinaga Masanori、Uehata Takuya、Cui Xiaotong、Sato Ayuko、Tsujimura Tohru、Suzuki Yutaka、Sato Atsuyasu、Handa Tomohiro、Chin Kazuo、Sawa Teiji、Hirai Toyohiro、Takeuchi Osamu
    • Journal Title

      Mucosal Immunology

      Volume: AOP Issue: 4 Pages: 1203-1218

    • DOI

      10.1038/s41385-018-0024-5

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16J08040, KAKENHI-PROJECT-17K08731, KAKENHI-PROJECT-18K15185, KAKENHI-PROJECT-15H05713, KAKENHI-PROJECT-18H05278, KAKENHI-PROJECT-18H04027, KAKENHI-PROJECT-18H02905, KAKENHI-PROJECT-16K08832, KAKENHI-PROJECT-16H06279
  • [Journal Article] Optineurin pathology in the spinal cord of amyotrophic lateral sclerosis/parkinsonism-dementia complex patients in Kii Peninsula, Japan2018

    • Author(s)
      Morimoto Satoru、Hatsuta Hiroyuki、Motoyama Rie、Kokubo Yasumasa、Ishiura Hiroyuki、Tsuji Shoji、Kuzuhara Shigeki、Murayama Shigeo
    • Journal Title

      Brain Pathology

      Volume: 28 Issue: 3 Pages: 422-426

    • DOI

      10.1111/bpa.12558

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09364, KAKENHI-PROJECT-25305030, KAKENHI-PROJECT-17H01689, KAKENHI-PROJECT-16H06277, KAKENHI-PROJECT-18K07368, KAKENHI-PROJECT-18KK0239, KAKENHI-PROJECT-15J03921
  • [Journal Article] Control of Directionality of Chromatin Folding for the Inter- and Intra-Domain Contacts at the Tfap2c-Bmp7 Locus2018

    • Author(s)
      Tsujimura T, Takase O, Yoshikawa M, Sano E, Hayashi M, Takato T, Toyoda A, Okano H, Hishikawa K.
    • Journal Title

      Epigenetic & Chromatin

      Volume: 11 Issue: 1 Pages: 51-51

    • DOI

      10.1186/s13072-018-0221-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K16072, KAKENHI-PROJECT-16H06279
  • [Journal Article] Molecular characterization of eye pigmentation-related ABC transporter genes in the ladybird beetle Harmonia axyridis reveals striking gene duplication of the white gene.2018

    • Author(s)
      Tsuji, T., Gotoh, H., Morita, S. Hirata, J., Minakuchi, Y., Yaginuma, T., Toyoda, A. and Niimi, T.
    • Journal Title

      Zool. Sci.

      Volume: 35 Issue: 3 Pages: 260-267

    • DOI

      10.2108/zs170166

    • NAID

      210000170345

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018

    • Author(s)
      Ishiura Hiroyuki、Doi Koichiro、Mitsui Jun、Yoshimura Jun、Matsukawa Miho Kawabe、Takahashi Yuji、Date Hidetoshi、Matsukawa Takashi、Shimizu Jun、Koh Kishin、Takiyama Yoshihisa、Goto Jun、Morishita Shinichi、Tsuji Shoji
    • Journal Title

      Nature Genetics

      Volume: 50 Issue: 4 Pages: 581-590

    • DOI

      10.1038/s41588-018-0067-2

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K17772, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-PROJECT-15H06161, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05874, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16K09670, KAKENHI-PROJECT-16K14571, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-17K07255, KAKENHI-PROJECT-17K09798, KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-18K07542, KAKENHI-PROJECT-16K09681
  • [Journal Article] Three-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy with compound heterozygous COQ2 mutations.2017

    • Author(s)
      Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige S, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y and Tsuji S.
    • Journal Title

      Cerebellum

      Volume: - Issue: 3 Pages: 1-9

    • DOI

      10.1007/s12311-017-0846-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26253054, KAKENHI-PROJECT-26350915, KAKENHI-PROJECT-17H06159, KAKENHI-PROJECT-15H04270, KAKENHI-PROJECT-15K09334
  • [Journal Article] Regnase-1 and Roquin Nonredundantly Regulate Th1 Differentiation Causing Cardiac Inflammation and Fibrosis2017

    • Author(s)
      Cui Xiaotong、Mino Takashi、Yoshinaga Masanori、Nakatsuka Yoshinari、Hia Fabian、Yamasoba Daichi、Tsujimura Tohru、Tomonaga Keizo、Suzuki Yutaka、Uehata Takuya、Takeuchi Osamu
    • Journal Title

      The Journal of Immunology

      Volume: 199 Issue: 12 Pages: 4066-4077

    • DOI

      10.4049/jimmunol.1701211

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K08832, KAKENHI-PROJECT-16H06898, KAKENHI-PROJECT-16J08040, KAKENHI-PROJECT-16H06279
  • [Journal Article] A novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.2017

    • Author(s)
      Yasuo Harigaya, Takashi Matsukawa, Yukio Fujita, Kazuyuki Mizushima,Hiroyuki Ishiura, Jun Mitsui, Shinichi Morishita, Mikio Shoji, Yoshio Ikeda, and Shoji Tsuji.
    • Journal Title

      Neurol Genet

      Volume: 3 Issue: 2

    • DOI

      10.1212/nxg.0000000000000138

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09306, KAKENHI-PROJECT-16K09665, KAKENHI-PROJECT-16H06279
  • [Journal Article] Regnase-1 Maintains Iron Homeostasis via the Degradation of Transferrin Receptor 1 and Prolyl-Hydroxylase-Domain-Containing Protein 3 mRNAs2017

    • Author(s)
      Yoshinaga Masanori、Nakatsuka Yoshinari、Vandenbon Alexis、Ori Daisuke、Uehata Takuya、Tsujimura Tohru、Suzuki Yutaka、Mino Takashi、Takeuchi Osamu
    • Journal Title

      Cell Reports

      Volume: 19 Issue: 8 Pages: 1614-1630

    • DOI

      10.1016/j.celrep.2017.05.009

    • NAID

      120006305989

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K08832, KAKENHI-PROJECT-17K15726, KAKENHI-PROJECT-15H05713, KAKENHI-PROJECT-16H06898, KAKENHI-PROJECT-16J08040, KAKENHI-PROJECT-16H06279
  • [Journal Article] A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.2016

    • Author(s)
      Horino A, Kawawaki H, Fukuoka M, Tsuji H, Hattori Y, Inoue T, Nukui M, Kuki I, Okazaki S, Tomiwa K, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 38 Issue: 9 Pages: 866-70

    • DOI

      10.1016/j.braindev.2016.03.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] Assessing Cell-to-Cell DNA Methylation Variability on Individual Long Reads.2016

    • Author(s)
      Qu W, Tsukahara T, Nakamura R, Yurino H, Hashimoto S, Tsuji S, Takeda H, Morishita S.
    • Journal Title

      Sci Rep.

      Volume: 6 Issue: 1 Pages: 21317-21317

    • DOI

      10.1038/srep21317

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Journal Article] AgIn: measuring the landscape of CpG methylation of individual repetitive elements2016

    • Author(s)
      Yuta Suzuki, Jonas Korlach, Stephen W. Turner, Tatsuya Tsukahara, Junko Taniguchi, Wei Qu, Kazuki Ichikawa, Jun Yoshimura, Hideaki Yurino, Yuji Takahashi, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroyuki Takeda, Shinichi Morishita
    • Journal Title

      Bioinformatics

      Volume: 32(19) Issue: 19 Pages: 2911-2919

    • DOI

      10.1093/bioinformatics/btw360

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15J03645, KAKENHI-PROJECT-16H06279
  • [Journal Article] Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort2016

    • Author(s)
      Ryoichi Nakamura, Jun Sone, Naoki Atsuta, Genki Tohnai, Hazuki Watanabe, Daichi Yokoi, Masahiro Nakatochi, Hirohisa Watanabe, Mizuki Ito, Jo Senda, Masahisa Katsuno, Fumiaki Tanaka, Yuanzhe Li, Yuishin Izumi, Mitsuya Morita, Akira Taniguchi, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Koji Abe.
    • Journal Title

      Neurobiology of Aging

      Volume: 39 Pages: 219-219

    • DOI

      10.1016/j.neurobiolaging.2015.11.030

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15K19485, KAKENHI-PROJECT-221S0002, KAKENHI-PROJECT-25461277, KAKENHI-PROJECT-15K15337, KAKENHI-PROJECT-26670439, KAKENHI-PROJECT-26670445, KAKENHI-PROJECT-25860725, KAKENHI-PROJECT-25293207, KAKENHI-ORGANIZER-26117001, KAKENHI-PROJECT-15H05667, KAKENHI-PROJECT-26461319
  • [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] Variants associated with Gaucher disease in multiple system atrophy2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, (中略), Tsuji S.
    • Journal Title

      Ann Clin Transl Neurol

      Volume: 2 Issue: 1 Pages: 59-63

    • DOI

      10.1002/acn3.18

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.2015

    • Author(s)
      Takiyama Y, Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, and Tsuji S.
    • Journal Title

      J Hum Genet

      Volume: in press Issue: 4 Pages: 217-220

    • DOI

      10.1038/jhg.2015.3

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.2015

    • Author(s)
      Yamashita S, Mori A, Nishida Y, Kurisaki R, Tawara N, Nishikami T, Misumi Y, Ueyama H, Imamura S, Higuchi Y, Hashiguchi A, Higuchi I, Morishita S, Yoshimura J, Uchino M, Takashima H, Tsuji S, Ando Y.
    • Journal Title

      Neuropathol Appl Neurobiol

      Volume: 41 Issue: 3 Pages: 391-398

    • DOI

      10.1111/nan.12179

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24591269, KAKENHI-PROJECT-25860718, KAKENHI-PROJECT-26860674, KAKENHI-PROJECT-221S0002
  • [Journal Article] Mutations in ERBB4 That Disrupt The NRG-ErbB4 Pathway Cause Autosomal Dominant Familial ALS Type 192014

    • Author(s)
      Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique Belzil, Klaus Elenius, Guy Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji
    • Journal Title

      Neurology

      Volume: 82

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Journal Article] Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood2014

    • Author(s)
      Sasaki M, Ishii A, Saito Y, (中略), Tsuji S and Hirose S.
    • Journal Title

      Neurology

      Volume: 82 Issue: 6 Pages: 482-490

    • DOI

      10.1212/wnl.0000000000000102

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-221S0002
  • [Journal Article] Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.2014

    • Author(s)
      Doi K, Monjo T, Hoang PH, Yoshimura J, Yurino H, Mitsui J, Ishiura H, Takahashi Y, Ichikawa Y, Goto J, Tsuji S, Morishita S.
    • Journal Title

      Bioinformatics

      Volume: 30 Issue: 6 Pages: 815-822

    • DOI

      10.1093/bioinformatics/btt647

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-25461270, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
  • [Journal Article] Genomic Aspects of Sporadic Neurodegenerative Diseases.2014

    • Author(s)
      Mitsui J and Tsuji S.
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 452 Issue: 2 Pages: 221-225

    • DOI

      10.1016/j.bbrc.2014.07.098

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
  • [Journal Article] Heterotrimeric G proteins control stem cell proliferation through CLAVATA signaling in Arabidopsis.2014

    • Author(s)
      Ishida, T., Tabata, R., Yamada, M., Aida, M., Mitsumasu, K., Fujiwara, M., Yamaguchi, K., Shigenobu, S., Higuchi, M., Tsuji, H., Shimamoto, K., Hasebe, M., Fukuda, H., Sawa, S.
    • Journal Title

      EMBO rep.

      Volume: 15 Issue: 11 Pages: 1202-1209

    • DOI

      10.15252/embr.201438660

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-24114001, KAKENHI-PLANNED-24114009, KAKENHI-PROJECT-24370024, KAKENHI-PUBLICLY-25119713, KAKENHI-PROJECT-25440134, KAKENHI-PROJECT-25891021, KAKENHI-PROJECT-221S0002, KAKENHI-PUBLICLY-26113713, KAKENHI-PROJECT-23227001
  • [Journal Article] Anti-NMDA Receptor Encephalitis Associated With Transient Cerebral Dyschromatopsia2014

    • Author(s)
      Sawamura H, Yamamoto T, Ohtomo R, Bannai T, Wakakura M, Tsuji S
    • Journal Title

      Prosopagnosia, and Lack of Stereopsis. J. Neuro-ophthalmol

      Volume: 34 Pages: 144-8

    • Data Source
      KAKENHI-PROJECT-23249048
  • [Journal Article] Exome sequencing shows a novel de novo mutation in ATL1.2014

    • Author(s)
      Koh K, Ishiura H, Miwa M, Doi K, Yoshimura J, Mitsui J, Goto J, Morishita S, Tsuji S and Takiyama Y.
    • Journal Title

      Neurology and Clinical Neuroscience

      Volume: 2 Issue: 1 Pages: 1-4

    • DOI

      10.1111/ncn3.72

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008
  • [Journal Article] Neurogenomics view of neurological diseases.2013

    • Author(s)
      Tsuji S.
    • Journal Title

      Archives of Neurology

      Volume: 70 Issue: 6 Pages: 689-694

    • DOI

      10.1001/jamaneurol.2013.734

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19.2013

    • Author(s)
      Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, (33名省略), Morishita S, Goto J and Tsuji S.
    • Journal Title

      Am J Hum Genet

      Volume: 93 Issue: 5 Pages: 900-905

    • DOI

      10.1016/j.ajhg.2013.09.008

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129003, KAKENHI-PLANNED-22129008, KAKENHI-PUBLICLY-25110714, KAKENHI-PROJECT-25253065, KAKENHI-PROJECT-25461277, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
  • [Journal Article] 東大病院ゲノム医学センターにおける取り組み.2013

    • Author(s)
      三井 純,石浦 浩之,辻 省次.
    • Journal Title

      Brain and Nerve

      Volume: 65 Pages: 247-255

    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Journal Article] Neurogenomics view of neurological diseases.2013

    • Author(s)
      Tsuji S.
    • Journal Title

      Arch. Neurol.

      Volume: 70 Pages: 689-694

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013

    • Author(s)
      Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
    • Journal Title

      J Bone Mineral Res

      Volume: 29 Issue: 4 Pages: 992-998

    • DOI

      10.1002/jbmr.2091

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-23591489, KAKENHI-PROJECT-24791042, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-26670494, KAKENHI-PROJECT-221S0002
  • [Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013

    • Author(s)
      Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
    • Journal Title

      PLoS One

      Volume: 8 Issue: 2 Pages: e56120-e56120

    • DOI

      10.1371/journal.pone.0056120

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002, KAKENHI-PLANNED-22129008
  • [Journal Article] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.2012

    • Author(s)
      Ishiura H
    • Journal Title

      Am J Hum Genet.

      Volume: 91(2) Issue: 2 Pages: 320-9

    • DOI

      10.1016/j.ajhg.2012.07.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22300118, KAKENHI-PROJECT-23500428, KAKENHI-PROJECT-23591233, KAKENHI-PROJECT-23659458, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-24300133, KAKENHI-PROJECT-24390220, KAKENHI-PROJECT-24406030, KAKENHI-PROJECT-24790348, KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002
  • [Journal Article] Inflammatory myopathies associated with anti-mitochondrial antibodies2012

    • Author(s)
      Hashimoto-Maeda M, Tsuji S, Shimizu J
    • Journal Title

      Brain

      Volume: (In press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249048
  • [Journal Article] CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.2012

    • Author(s)
      Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
    • Journal Title

      Am J Med Genet B Neuropsychiatr Genet.

      Volume: 159B(8) Issue: 8 Pages: 951-7

    • DOI

      10.1002/ajmg.b.32100

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-24390220, KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-221S0002
  • [Journal Article] Aberrant expression of myogenin in inclusion body myositis: Immunohistochemical studies of transcription factors regulating myogenesis in inflammatory myopathies.2012

    • Author(s)
      Kubota A, Shimizu J, Iwata A, Tsuji S.
    • Journal Title

      Clin Exp Neuroimmunol

      Volume: 3 Issue: 3 Pages: 129-137

    • DOI

      10.1111/cen3.12000

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249048
  • [Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR12011

    • Author(s)
      Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 117-121

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Identification of novel SNPs of ABCD1, ABCD2, ABCD3 and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes2011

    • Author(s)
      Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 41-50

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR12011

    • Author(s)
      Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 117-121

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B52011

    • Author(s)
      Matsukawa T, Wang X, Liu R, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa T, Shimizu J, Goto J, Proud CG, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 259-261

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B52011

    • Author(s)
      Matsukawa T, Wang X, Liu R, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa T, Shimizu J, Goto J, Proud CG, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 259-261

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Identification of novel SNPs of ABCD1, ABCD2, ABCD3 and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes2011

    • Author(s)
      Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 41-50

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines2010

    • Author(s)
      3. Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice I, Hattori N, Tsuji S
    • Journal Title

      Amer J Hum Genet 87

      Pages: 75-89

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines2010

    • Author(s)
      Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice I, Hattori N, Tsuji S
    • Journal Title

      Amer J Hum Genet

      Volume: 87 Pages: 75-89

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing employing next-generation sequencer Running Title : Multiplexed resequencing analysis of pooled DNA.2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S.
    • Journal Title

      J.Hum.Genet. (in Press, 印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Genetics of neurodegenerative diseases : insights from high-throughput resequencing.2010

    • Author(s)
      Tsuji S.
    • Journal Title

      Hum.Mol.Genet.

      Volume: 19

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing einploying next-generation sequencer2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S
    • Journal Title

      J.Hum.Genet.

      Volume: 55 Pages: 448-455

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing employing next-generation sequencer Running Title : Multiplexed resequencing analysis of pooled DNA2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S
    • Journal Title

      J.Hum.Genet. 55

      Pages: 448-455

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease2010

    • Author(s)
      Matsumoto L, Takuma H, Tamaoka A, Kurisaki H, Date H, Tsuji S, Iwata A
    • Journal Title

      PLOS One 5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Genetics of neurdegenerative diseases : insights from high-throughput resequencing2010

    • Author(s)
      Tsuji S
    • Journal Title

      Hum.Mol.Genet. 19

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile site-associated loci, PARK2 and DMD, in germ celland cancer cell lines2010

    • Author(s)
      Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice I, Hattori N, Tsuji S
    • Journal Title

      Amer J Hum Genet

      Volume: 87 Pages: 75-89

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing employing next-generation sequencer2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S
    • Journal Title

      J.Hum.Genet.

      Volume: 55 Pages: 448-455

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Genetics of neurodegenerative diseases : insights from high-throughput resequencing2010

    • Author(s)
      Tsuji S.
    • Journal Title

      Hum.Mol.Genet.

      Volume: 19 Pages: 65-70

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] Genetics of neurodegenerative diseases : insights from high-throughput resequencing2010

    • Author(s)
      Tsuji S.
    • Journal Title

      Hum.Mol.Genet.

      Volume: 19 Pages: 65-70

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DN A with barcode indexing employing next-generation sequencer Running Title : Multiplexed resequencing analysis of pooled DNA.2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishura H, Takahashi Y, Goto J, Tsuji S.
    • Journal Title

      J.Hum.Genet

      Volume: 55 Pages: 448-445

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] SNP haplotype mapping in a small ALS family2009

    • Author(s)
      Krueger KA, Tsuji S, Fukuda Y, et al.
    • Journal Title

      PLoS One 4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] SNP haplotype mapping in a small ALS family2009

    • Author(s)
      Krueger KA, Tsuji S, Fukuda Y, et al.
    • Journal Title

      PLoS One 4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Mutations for Gaucher disease confer a high susceptibility to Parkinson disease2009

    • Author(s)
      Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda, T, Tsuji S
    • Journal Title

      Arch Neurol 66

      Pages: 571-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Familial Ischemic Cerebral Small-Vessel Disease, Alopecia, and Spondylosis Caused by Mutations in the HTRA1 Gene2009

    • Author(s)
      Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O.
    • Journal Title

      New Engl J Med 360

      Pages: 1729-1739

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] International multi-center analysis of glucocerebrosidase mutations in Parkinson disease2009

    • Author(s)
      390. Sidransky E, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark ON, Condroyer C, De Marco EV, Drr A, Eblan MJ, Fahn S, Farrer M, Fung H-C, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp R, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nalls MA, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano A, Tsuji S, Wittstock M, Wolfsberg TG, Wu Y-R, Zabetian CP, Zhao Y, Ziegler SG
    • Journal Title

      New Engl J.Med. 361

      Pages: 1651-1661

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Familial Ischemic Cerebral Small-Vessel Disease, Alopecia, and Spondylosis Caused by Mutations in the HTRA1 Gene2009

    • Author(s)
      Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O.
    • Journal Title

      New Engl J Med 360

      Pages: 1729-1739

    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] International multi-center analysis of glucocerebrosidase mutations in Parkinson disease.2009

    • Author(s)
      Sidransky E, Aasly JO, …Mitsui J, …Tsuji S, …Zhao Y, Ziegler SG.
    • Journal Title

      New Engl J.Med. 361

      Pages: 1651-1661

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Mutations for Gaucher disease confer a high susceptibility to Parkinson disease.2009

    • Author(s)
      Mitsui, J, Mizuta, I, Toyoda, A, Ashida, R, Takahashi, Y, Goto, J, Fukuda, Y, Date, H, Iwata, A, Yamamoto, M, Hattori, N, Murata, M, Toda, T, Tsuji, S.
    • Journal Title

      Arch Neurol 66

      Pages: 571-576

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] Development of high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.2008

    • Author(s)
      Takahashi, Y. (Tsuji, S.)
    • Journal Title

      Arch Neurol. (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [Journal Article] Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice2008

    • Author(s)
      Sato, T, Miura, M, Yamada, M, Aosaki, T and Tsuji, S
    • Journal Title

      Hum. Mol. Genet. 18

      Pages: 723-736

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] otal deletion and a missensemutation of ITPRl inJapanese SCA15 families2008

    • Author(s)
      348. Hara, K, Shiga, A, Nozaki, H, Mitsui, J, Takahashi, Y, Ishiguro, H, Yomono, H, Kurisaki, H, GotomJ, Ikeuchi, T, Tsuji, S, Nishizawa, M, and Onodera, O.
    • Journal Title

      Neurology

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: Implication for genotype-phenotype correlation.2008

    • Author(s)
      Arai, N. (Tsuji, S.)
    • Journal Title

      Neurogenetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [Journal Article] Familial cases presenting very early onset autosomal dominant Alzheimer' s disease with D43T in presenilin-1 gene : Implication for genotype-phenotype correlation2008

    • Author(s)
      Arai , N, Kishino, A, Takahashi, Y, Ida, M., Goto, J, Tsuji, S.
    • Journal Title

      Neurogenetics 9

      Pages: 65-67

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.2008

    • Author(s)
      Hara, K. (Tsuji, S.)
    • Journal Title

      Neurol. (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [Journal Article] Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: Implication for genotype-phenotype correlation.2008

    • Author(s)
      Arai, N, Kishino, A, Takahashi, Y, Morita1, D, Nakamura, K, Yokoyama, T, Watanabe, T, Ida, M., Goto, J, Tsuji, S.
    • Journal Title

      Neurogeneticcs 9

      Pages: 65-67

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Familial cases presenting very early onset autosomaldominant Aizheimer's disease with I143T in presenilin-1 gene: Implication for genotype-phenotype correlation2008

    • Author(s)
      Arai, N, Kishino, A, Takahashi, Y, Morital, D, Nakamura, K, Yokoyama, T, Watanabe, T, Ida, M., Goto, J, Tsuji, S.
    • Journal Title

      Neurogeneticcs

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Appropriate data cleaning methods for genome-wide association study2008

    • Author(s)
      Miyagawa T, Nishida N, Ohashi J, Kimura R, Fujimoto A, Kawashima M, Koike A, Sasaki T, Tanii H, Otowa T, Momose Y, Nakahara Y, Goto J, Okazaki Y, Tsuji S and Tokunaga K.
    • Journal Title

      J Hum Genet 53

      Pages: 886-93

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Appropriate data cleaning methods for genome-wide association study2008

    • Author(s)
      Miyagawa T, Nishida N, Ohashi J, Tsuji S, Tokunaga K
    • Journal Title

      J Hum Genet. 53

      Pages: 883-893

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene : Implication for genotype-phenotype correlation2008

    • Author(s)
      Arai, N, Kishino, A, Takahashi, Y, Morital, D, Nakamura, K, Yokoyama, T, Watanabe, T, Ida, M., Goto, J, Tsuji, S.
    • Journal Title

      Neurogenetics 9

      Pages: 65-67

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis2008

    • Author(s)
      Takahashi, Y., Seki, N., Ishiura, H., Mitsui, J., Matsukawa, T., Kishino, A., Onodera, O., Aoki, M., Shimozawa, N., Murayama, S., Itoyama, Y., Suzuki, Y., Sobue, G., Nishizawa, M., Goto, J., Tsuji, S.
    • Journal Title

      Arch Neurol 65(10)

      Pages: 1326-1332

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [Journal Article] Development of high-throughput microarray-based resequencing system for neurologica1 disorders and its application to molecular genetics of amyotrophic lateral sclerosis2008

    • Author(s)
      Takahashi, Y, Seki, N, Ishiura, H, Goto, J and Tsuji, S.
    • Journal Title

      Arch Neurol 65

      Pages: 1326-1332

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Variant between CPT1B and CHKB associated with susceptibility to narcoleps Y2008

    • Author(s)
      Miyagawa T, Kawashima M, Tsuji S, Tokunaga K
    • Journal Title

      Nat Genet. 40

      Pages: 1324-1328

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Development of high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis2008

    • Author(s)
      Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa M, Murayama S, Itoyama Y, Suzuki Y, Sobue S, Nishizawa M, Goto J and Tsuji S.
    • Journal Title

      Arch Neurol 65

      Pages: 1326-32

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Determination of editors at the novel A-to-I editing positions2008

    • Author(s)
      Nishimoto Y, Yamashita T, Hideya ma T, Tsuji S, Suzuki N, Kwak S
    • Journal Title

      Neurosci Res. 61

      Pages: 201-206

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Multiplex families with multiple system atrophy.2007

    • Author(s)
      Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S
    • Journal Title

      Arch Neurol. 64(4)

      Pages: 545-551

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Aprataxin, causative gene product for EAOH/AOAI, repairs DNA single-strand breaks with 3'-phosphate and 3'-phosphoglycolate ends2007

    • Author(s)
      Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O
    • Journal Title

      Nucleic Acids Res (in press)

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Multiplex families with multiple system atrophy2007

    • Author(s)
      Hara, K., Momose, Y., …and Tsuji, S.
    • Journal Title

      Arch. Neurol 64

      Pages: 545-551

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Severe hypokinesis caused by paraneoplastic anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasia.2007

    • Author(s)
      Tsuji S, et al.
    • Journal Title

      Movement Disord (in press)

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.2007

    • Author(s)
      Hara, K, Shiga, A, Nozaki, H,…Tsuji, S,…and Onodera, O.
    • Journal Title

      Ann Neurol 64

      Pages: 544-544

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Multiple families with multiple system atrophy.2007

    • Author(s)
      Tsuji S, et al.
    • Journal Title

      (in press)

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Aprataxin, causative gene product, for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.2007

    • Author(s)
      Takahashi, T., Tada, M.,…Tsuji, S., Nishizawa, M., Onodera, O.
    • Journal Title

      Nucleic Acids Res 35

      Pages: 3797-3809

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3-q23.32007

    • Author(s)
      Shimohata T, Hara K, Sanpe, K,…Tsuji S, and Honma Y.
    • Journal Title

      Brain 130

      Pages: 302-309

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease.2007

    • Author(s)
      Martins S, Calafell F,…Tsuji, S,…Sequeiros, J.
    • Journal Title

      Arch Neurol. 64

      Pages: 1502-1508

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] 第48回日本神経学会総会 シンポジウム 西大西洋地域の筋萎縮性側索硬化症/パーキンソン・認知症複合(ALS/PDC)と関連神経変性疾患.紀伊ALS/PDCの分子遺伝学的.2007

    • Author(s)
      原 賢寿、桑野良三、宮下哲典、小久保康昌、佐々木良元、中原安雄、後藤 順、西澤正豊、葛原茂樹、辻 省次
    • Journal Title

      臨床神経 47

      Pages: 974-976

    • Data Source
      KAKENHI-PROJECT-19390239
  • [Journal Article] Novel locus for benign hereditary chorea with adult-onset maps to chromosome 8q21.3-q23.32007

    • Author(s)
      Shimohata T, Hara K, Sanpei K, Nunomura J, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y
    • Journal Title

      Brain (In press)

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Multiplex families with multiple system atrophy2007

    • Author(s)
      Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa K, Nishizawa M, and Tsuji S
    • Journal Title

      Arch. Neurol 64

      Pages: 545-551

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with 3 f-phosphate and 3 f-phosphoglycolate ends.2007

    • Author(s)
      Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M. *Onodera O.
    • Journal Title

      Nucleic Acids Res. 35

      Pages: 3797-3809

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease.2007

    • Author(s)
      Martins, S. (Tsuji, S.)
    • Journal Title

      Arch Neurol. Oct;64(10)

      Pages: 1502-1508

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [Journal Article] Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluyslan atrophy.2006

    • Author(s)
      SaKai K, Yamada M, Sato T, Yamada M, Tsuji S, Takahashi H
    • Journal Title

      Brain 129(PT9)

      Pages: 2353-2362

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsuji, S
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation.2005

    • Author(s)
      Takahashi T, Nozaki K, Tsuji S, S, Nishizawa M, Onodera O.
    • Journal Title

      Neuroreport 16(3)

      Pages: 295-299

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Spinocerebellar ataxia type 15.2005

    • Author(s)
      Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E
    • Journal Title

      Cerebellum 4(1)

      Pages: 47-50

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata M, Shimohata T, Igarashi S, Naruse S, Tsuji S
    • Journal Title

      J Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-12209001
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches-Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsujii, S.
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons.2005

    • Author(s)
      Miyashita T, Tabuchi A, Fukuchi M, Hara D, Kisukeda T, Shimohata T, Tsuji S, Tsuda M
    • Journal Title

      Biochem Biophys Res Commun 333(4)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional Activation as a potential therapeutic strategy for polyglutamine disease/2005

    • Author(s)
      Shimohata M, Shimohata T, Igarashi S, Naruse S, Tsuji S
    • Journal Title

      J. Neurochem 93

      Pages: 654-663

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation.2005

    • Author(s)
      Takahashi T, Nozaki K, Tsuji S, Nishizawa M, Onodera O.
    • Journal Title

      Neuroreport 16(3)

      Pages: 295-299

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.2005

    • Author(s)
      Funayama M, Hasegawa K, Ohta E, Kawashima N, Komiyama M, Kowa H, Tsuji S, Obata F.
    • Journal Title

      Ann Neurol 57(6)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Interference of CREB dependent transcriptional activation expanded opolyglutamine stretches- Aumentation of transcriptional activation as a potential therapeutic strategy for polyglutarnine diseases/2005

    • Author(s)
      Shimohata, M, Shimohata, T,.Igarashi, S, Naruse, S, Tsujil, S.
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons.2005

    • Author(s)
      Miyashita T, Tabuchi A, Fukuchi M, Hara D, Kisukeda T, Shimohata T, Tsuji S, Tsuda M.
    • Journal Title

      Biochem Biophys Res Commun 333(4)

      Pages: 1241-1248

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Polyglutamine represses cAMP-mediated transcription without aggregate formation.2005

    • Author(s)
      Takahashi T, Nozaki K, Tsuji S, Nishizawa M, Onodera O.
    • Journal Title

      Neuroreport 16(3)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Spinocerebellar ataxia type 15.2005

    • Author(s)
      Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E.
    • Journal Title

      Cerebellum 5;4(1)

      Pages: 47-50

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches-Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases/2005

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsujil, S
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Spinocerebellar ataxia type 15.2005

    • Author(s)
      Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E.
    • Journal Title

      Cerebellum 4(1)

      Pages: 47-50

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches -Augmentation of transcriptional activation as a potential therapeutic strategy for polygluamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata T, Igarashi S, Naruse, S, Tsuji, S.
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsuji, S.
    • Journal Title

      J.Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.2005

    • Author(s)
      Funayama M, Hasegawa K, Ohta E, Kawashima N, Komiyama M, Kowa H, Tsuji S, Obata F.
    • Journal Title

      Ann Neurol 57(6)

      Pages: 918-921

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] O.Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation.2005

    • Author(s)
      Takahashi T, Nozaki K, Tsuji S, Nishizawa M, Onodera
    • Journal Title

      Neuroreport 16(3)

      Pages: 295-299

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsujil, S
    • Journal Title

      1. J. Neurochem 93

      Pages: 654-663

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.2005

    • Author(s)
      Funayama M, Hasegawa K, Ohta E, Kawashima N, Komiyama M, Kowa H, Tsuji S, Obata F
    • Journal Title

      Ann Neurol 57(6)

      Pages: 918-921

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons.2005

    • Author(s)
      Miyashita T, Tabuchi A, Fukuchi M, Hara D, Kisukeda T, Shimohata T, Tsuji S, Tsuda M
    • Journal Title

      Biochem Biophys Res Commun 333(4)

      Pages: 1241-1248

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] An LRRK2 mutation as a cause for the parkinsonlsm in the original PARK8 family.2005

    • Author(s)
      Funayama M, Hasegawa K, Ohta E, Kawashima N, Komiyama M, Kowa H, Tsuji S, Obata F
    • Journal Title

      Ann Neurol 57(6)

      Pages: 918-921

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons.2005

    • Author(s)
      Miyashita T, Tabuchi A, Fukuchi M, Hara D, Kisukeda T, Shimohata T, Tsuji S, Tsuda M.
    • Journal Title

      Biochem Biophys Res Commun 333(4):

      Pages: 1241-1248

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Spinocerebellar ataxia type 15.2005

    • Author(s)
      Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E.
    • Journal Title

      Cerebellum 4(1)

      Pages: 47-50

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases2005

    • Author(s)
      Shimohata, M, Shimohata T, Igarashi, S, Naruse, S, Tsujil, S
    • Journal Title

      J. Neurochem 93

      Pages: 654-663

    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Greenstein, P.Huntington's Disease-like 2 (HDL2) in North America and Japan.2004

    • Author(s)
      Margolis RL, Holmes, S E., Rosenblatt, A., Gourley, L., O'Hearn, E., Ross, C A., Seltzer, W K., Walker, RH., Ashizawa, T., Rasmussen, A., Hayden, M., Almqvist, E W., Harris, J., Fahn, S., MacDonald, M E., Mysore, J., Shimohata, T., Tsuji, S., Potter, N., Nakaso, K., Adachi, Y., Nakashima, K., Bird, T., Krause, A.
    • Journal Title

      Ann Neurol 56

      Pages: 670-674

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein.2004

    • Author(s)
      Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S
    • Journal Title

      Ann Neurol 55

      Pages: 241-249

    • Data Source
      KAKENHI-PROJECT-12209001
  • [Journal Article] Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin.2004

    • Author(s)
      Shimohata T, Kimura T, Nishizawa M, Onodera O, Tsuji S.
    • Journal Title

      J Neurol Neurosurg Psychiatry 75

      Pages: 206-207

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] The FHA domain of aprataxin (APTX) interacts with The C terminal region of XRCC1.2004

    • Author(s)
      Date, H, Igarashi, S, Sano, Y, Takahashi, T, Takahashi, T, Takano, H, Tsuji, S, Nishizawa, S, Onodera, 0.
    • Journal Title

      Biochem.Biophys.Res.Commun. 325

      Pages: 1279-1285

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein2004

    • Author(s)
      Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S
    • Journal Title

      Ann Neurol 55

      Pages: 241-249

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12209001
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein wi2004

    • Author(s)
      Sano, Y., Date, H, Igarashi, S, Onodera, O, Oyake, M, Takahashi, T, Hayashi, S, Morimatsu, M, Takahashi, H, Makifuchi, T, Fukuhara, N, Tsuji, S.
    • Journal Title

      Ann.Neurol. 55

      Pages: 241-249

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Japanese SCA families with a distinct phenotype linked to a locus overlapping with SCA15 locus2004

    • Author(s)
      Hara, K, Fukushima, T, Suzuki, T, Shimohata, T, Oyake, M, Ishiguro, H, Hirota, K, Miyashita, A, Kuwano, R, Kurisaki, H, Yomono, H, Goto, J, Kanazawa, I, Tsuji, S
    • Journal Title

      Neurol. 62

      Pages: 648-651

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Sharing of polyglutamine transport by the neuronal nucleus and cytoplasm in CAG-repeat diseases.2004

    • Author(s)
      Yamada, M, Tan, S-H, Inenaga, C, Tsuji, S, Takahashi, H
    • Journal Title

      Neuropathol. Appl. Neurobiol. 30

      Pages: 665-675

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B52004

    • Author(s)
      Ohtake H, Shimohata, T., Terajima, K., Kimura, T., Jo, R., Kaseda, R., Iizuka, O., Takano, M., Akaiwa, Y., Goto, H., Kobayashi, H., Sugai, T., Muratake, T., Hosoki, T., Shioiri, T., Okamoto, K., Onodera, O., Tanaka, K., Someya, T., Nakada, T., Tsuji, S.
    • Journal Title

      Neurology 62

      Pages: 1601-1603

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Adult-onset leukocncephalopathy with vanishing whitte matter with a missense mutation in EIF2B5.2004

    • Author(s)
      Ohtake H, Shimohata, T, Terajima, K, Kimura, T, Jo, R, Kaseda, R, Iizuka, O, Takano, M, Akaiwa, Y, Goto, H, Kobayashi, H, Sugai, T, Muratake, T, Hosoki, T, Shioiri, T, Okamoto, K, Onodera, O, Tanaka, K, Someya, T, Nakada, T, Tsuji, S
    • Journal Title

      Neurology 62

      Pages: 1601-3

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF 2B5.2004

    • Author(s)
      Ohtake H, Shimohata, T., Terajima, K., Kimura, T., Jo, R., Kaseda, R., Iizuka, O., Takano, M., Akaiwa, Y., Goto, H., Kobayashi, H., Sugai, T., Muratake, T., Hosoki, T., Shioiri T., Okamoto, K., Onodera, O., Tanaka, K., Someya, T., Nakada, T., Tsuji, S.
    • Journal Title

      Neurology 62

      Pages: 1601-1603

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.2004

    • Author(s)
      Zuchner S, Mersiyanova, I V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P D., Takahashi, Y., Tsuji, S., Pericak-Vance, M A., Quattrone, A., Battaloglu, E., Polyakov, AV., Timmerman, V., Schroder, J M., Vance, J M., Battologlu E.
    • Journal Title

      Nat Genet 36

      Pages: 449-451

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin.2004

    • Author(s)
      Shimohata T, Kimura T, Nishizawa M, Onodera O, Tsuji S.
    • Journal Title

      J Neurol Neurosurg Psychiatry 75

      Pages: 1206-1207

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein.2004

    • Author(s)
      Sano, Y., Date, H, Igarashi, S, Onodera, O, Oyake, M, Takahashi, T, Hayashi, S, Morimatsu, M, Takahashi, H, Makifuchi, T, Fukuhara, N, Tsuji, S.
    • Journal Title

      Ann.Neurol. 55

      Pages: 241-249

    • Data Source
      KAKENHI-PROJECT-16209028
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein.2004

    • Author(s)
      Sano, Y., Date, H, Igarashi, S, Onodera, O, Oyake, M, Takahashi, T, Hayashi, S, Morimatsu, M, Takahashi, H, Makifuchi, T, Fukuhara, N, Tsuji, S
    • Journal Title

      Ann. Neurol. 55

      Pages: 241-249

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Mutations in the mitochondrial GTPase mito fusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.2004

    • Author(s)
      Zuchner S, Mersiyanova, I V.Muglia, M.Bissar-Tadmouri, N.Rochelle, J.Dadali, E L.Zappia, M.Nelis, E.Patitucci, A.Senderek, J.Parman, Y.Evgrafov, O.Jonghe, P D.Takahashi, Y.Tsuji, S.Pericak-Vance, M A.Quattrone, A.Battaloglu, E.Polyakov, A V.Timmerman, V.Schroder, J M.Vance, J M.Battologlu, E.
    • Journal Title

      Nat Genet 36

      Pages: 449-451

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein.2004

    • Author(s)
      Sano, Y., Date, H, Igarashi, S, Onodera, 0, Oyake, M, Takahashi, T, Hayashi, S, Morimatsu, M, Takahashi, H, Makifuchi, T, Fukuhara, N, Tsuji, S.
    • Journal Title

      Ann. Neurol 55

      Pages: 241-249

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin.2004

    • Author(s)
      Shimohata T, Kimura T, Nishizawa M, Onodera O, Tsuji S
    • Journal Title

      J Neurol Neurosurg Psychiatry 75

      Pages: 206-207

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Five year follow up of a patient with spinal and bulbar muscularatrophy treated with leuprorelin.2004

    • Author(s)
      Shimohata T, Kimura T, Nishizawa M, Onodera 0, Tsuji S.
    • Journal Title

      J Neurol Neurosurg Psychiatry 75

      Pages: 206-207

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Aprataxin, the causative protein for early-onset ataxia with ocular motor apraxia and hypoalbuminemia, is a nuclear protein with a potential role as a nucleotide repair protein.2004

    • Author(s)
      Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S
    • Journal Title

      Ann.Neurol. 55

      Pages: 241-249

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12209001
  • [Journal Article] Japanese SCA families with a distinct phenotype linked to a locus overlapping with SCA15 locus2004

    • Author(s)
      Hara, K, Fukushima, T, Suzuki, T, Shimohata, T, Oyake, M, Ishiguro, H, Hirota, K, Miyashita, A, Kuwano, R, Kurisaki, H, Yomono, H, Goto, J, Kanazawa, I, Tsuji, S
    • Journal Title

      Neurol 62

      Pages: 648-651

    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.2004

    • Author(s)
      Zuchner S, Mersiyanova, I V.Muglia, M.Bissar-Tadmouri, N.Rochelle, J.Dadali, E L.Zappia, M.Nelis, E.Patitucci, A.Senderek, J.Parman, Y.Evgrafov, 0.Jonghe, P D.Takahashi, Y.Tsuji, S.Pericak-Vance, M A.Quattrone, A.Battaloglu, E.Polyakov, AV.Timmerman, V.Schroder, J M.Vance, J M.Battologlu, E.
    • Journal Title

      Nat Genet 36

      Pages: 449-451

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Sharing of polyglutamine transport by the neuronal nucleus and cytoplasm in CAG-repeat diseases.2004

    • Author(s)
      Yamada, M, Tan, S-H, Inenaga, C, Tsuji, S, Takahashi, H.
    • Journal Title

      Neuropathol.Appl.Neurobiol 30

      Pages: 665-675

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.2004

    • Author(s)
      Hara K, Kuwano R, Tsuji S, et al.
    • Journal Title

      Neurology 62/4

      Pages: 648-651

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] The FHA domain of aprataxin (APTX) interacts with the C terminal region of XRCC1.2004

    • Author(s)
      Date, H, Igarashi, S, Sano, Y, Takahashi, T, Takahashi, T, Takano, H, Tsuji, S, Nishizawa, S, Onodera, O.
    • Journal Title

      Biochem.Biophys.Res.Commun. 325

      Pages: 1279-1285

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] The FHA domain of aprataxin (APTX) interacts with the C terminal region of XRCC1.2004

    • Author(s)
      Date, H, Igarashi, S, Sano, Y, Takahashi, T, Takahashi, T, Takano, H, Tsuji, S, Nishizawa, S, Onodera, O
    • Journal Title

      Biochem. Biophys. Res. Commun. 325

      Pages: 1279-1285

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Sharing of polyglutamine transport by the neuronal nucleus and cytoplasm in CAG-repeat diseases.2004

    • Author(s)
      Yamada, M, Tan, S-H, Inenaga, C, Tsuji, S, Takahashi, H.
    • Journal Title

      Neuropathol.Appl.Neurobiol. 30

      Pages: 665-675

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] Development of high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

    • Author(s)
      Takahashi, Y, Seki, N, Ishiura, H, Mitsui, J, Matsukawa, T, Kishino, A, Onodera, O, Aoki, M, Shimozawa, M, Murayama, S, Itoyama, Y, Suzuki, Y, Sobue, S, Nishizawa, M, Goto, J., Tsuji, S.
    • Journal Title

      Archives of Neurology (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] SNP HiTLink : a high-throughput linkage analysis system employing dense SNP data

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E and Tsuji S.
    • Journal Title

      BMC Bioinformatics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan.

    • Author(s)
      Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S:
    • Journal Title

      Am J Med Genet Part B (in press)

      Pages: 0-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390239
  • [Journal Article] A novel ferritin light chain gene mutation in a Japanese family with neuroferr itinopathy : description of clinical features and implications for genotype-phenotvne correlations

    • Author(s)
      Kubota, A, Hida, A, Ichikawa, Y, Kanazawa, I, and Tsuji, S
    • Journal Title

      Mov. Disord. (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] 「研究成果報告書概要(欧文)」より

    • Author(s)
      Hara, K, Shiga, A, Nozaki, H, Mitsui, J, Takahashi, Y, Ishiguro, H, Yomono, H, Kurisaki, H, Gotom J, Ikeuchi, T, Tsuji, S, Nishizawa, M, Onodera, O.
    • Journal Title

      Neurology (in press)

    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Total deletion and a missense mutatio of ITPR1 in Japanese SCA15 families.

    • Author(s)
      Hara, K, Shiga, A, Nozaki, H, Mitsui, J, Takahashi, Y, Ishiguro, H, Yomono, H, Kurisaki, H, Gotom J, Ikeuchi, T, Tsuji, S, Nishizawa, M, and Onodera, O.
    • Journal Title

      Neurology (In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Journal Article] Interference of CREB-dependent transcriptional activation by expanded polyglutamine stretches - Augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases

    • Author(s)
      Shimohata, M, Shimohata, T, Igarashi, S, Naruse, S, Tsujil, S.
    • Journal Title

      1.J.Neurochem (in press)

    • Data Source
      KAKENHI-PROJECT-12210008
  • [Journal Article] TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan

    • Author(s)
      Hara K, Kokubo Y, Ishiura H, Kuzuhara S, and Tsuji S
    • Journal Title

      Am. J. Med. Genet. (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese

    • Author(s)
      Takei N, Miyashita A, Tsukie T, Arai H, Asada T, Imagawa M, Shoji M, Higuchi S, Urakami K, Kimura H, Kakita A, Takahashi H, Tsuji S, Kanazawa I, I hara Y, Odani S and Kuwano R.
    • Journal Title

      Genomics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Journal Article] Mutations for Gaucher disease confer a high susceptibility to Parkinson disease.

    • Author(s)
      Mitsui, J, Mizuta, I, Toyoda, A, A shida, R, Takahashi, Y, Goto, J, F ukuda, Y, Date, H, Iwata, A, Yam amoto, M, Hattori, N, Murata, M, Toda, T and Tsuji, S.
    • Journal Title

      Arch Neurol(in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Journal Article] TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan

    • Author(s)
      Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S
    • Journal Title

      Am J Med Genet Part B (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19390239
  • [Journal Article] Mutations for Gaucher disease confer a high susceptibility to Parkinson disease

    • Author(s)
      Mitsui, J, Mizuta, I, Toyoda, A, Toda, T and Tsuji, S
    • Journal Title

      Arch Neurol (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Journal Article] Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese

    • Author(s)
      Takei N, Miyashita A, Tsuji S, Kanazawa I, Ihara Y, Kuwano R
    • Journal Title

      Genomics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Patent] 筋萎縮性側索硬化症の新規病因遺伝子2013

    • Inventor(s)
      辻 省次,高橋 祐二
    • Industrial Property Rights Holder
      辻 省次,高橋 祐二
    • Industrial Property Rights Type
      特許
    • Filing Date
      2013-08-02
    • Overseas
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Patent] 筋萎縮性側索硬化症の新規病因遺伝子2013

    • Inventor(s)
      辻 省次,高橋 祐二
    • Industrial Property Rights Holder
      辻 省次,高橋 祐二
    • Industrial Property Rights Type
      特許
    • Filing Date
      2013-08-02
    • Overseas
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Patent] Association of HTRA1 mutations and familial ischemic cerebral small-vessel dieases2010

    • Inventor(s)
      辻省次, 小野寺理
    • Industrial Property Rights Holder
      The University of Tokyo
    • Filing Date
      2010-04-20
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Patent] Association of HTRA1 mutations and familial ischemic cerebral small-vessel dieases.2010

    • Inventor(s)
      辻省次, 小野寺理
    • Industrial Property Rights Holder
      The University of Tokyo
    • Filing Date
      2010-04-20
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Presentation] 誰も培養したことがない北極と南極の菌類の探索と産業利用への挑戦2021

    • Author(s)
      辻 雅晴
    • Organizer
      第73回日本生物工学会大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] 南極産菌類および高緯度北極産菌類に関する分類学的および生理学的な研究2021

    • Author(s)
      辻 雅晴
    • Organizer
      日本菌学会第65回大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] 南極に生息している菌類とその産業への利用に向けて2021

    • Author(s)
      辻雅晴
    • Organizer
      バイオインダストリー協会・未来へのバイオ技術勉強会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Proposal for a new fungus genus isolated from Ellesmere Island, Canadian High Arctic2021

    • Author(s)
      Tsuji M, Tanabe Y, WF Vincent, Uchida M
    • Organizer
      The 12th Symposium on Polar Science 2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] イネの3Dゲノムに対して異種染色体の添加が与える影響の解析2021

    • Author(s)
      真弓 彩夏、保坂 碧、安井 秀、野々村 賢一、松永 幸大、坂本 卓也、武田 紀子、山口 佳穂、辻 寛之
    • Organizer
      日本育種学会第139回講演会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] レット症候群原因因子MeCP2のmiR-199aを介した神経幹細胞分化制御2020

    • Author(s)
      中嶋秀行、辻村啓太、中島欽一
    • Organizer
      第43回日本分子生物学会年会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] イネ染色体添加系統におけるゲノムの高次構造解析2020

    • Author(s)
      保坂 碧, 真弓 彩夏, 鈴木 創, 笠原 雅弘, 野々 村 賢一, 安井 秀, 辻 寛之
    • Organizer
      日本育種学会第137回講演会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] 北極と南極に生育している菌類の産業利用を目指して2020

    • Author(s)
      辻雅晴
    • Organizer
      極限環境生物学会第21回年会・シンポジウム
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Changes in fungal diversity in Ward Hunt Lake, Canadian High Arctic2020

    • Author(s)
      Tsuji M, Tanabe Y, WF Vincent, Uchida M
    • Organizer
      第11回極域科学シンポジウム
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Characteristics of Mosaic Neurofibromatosis type 2 Revealed by Deep Sequence for Multiple Tissue DNA2020

    • Author(s)
      Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Atsushi Okano, Shunsaku Takayanagi, Takahiro Ota, Jun Yoshimura, Wei Qu, Jun Mitsui, Hirofumi Nakatomi, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
    • Organizer
      2020 European NF Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] ロングリードシーケンスを用いたイネ染色体添加系統におけるゲノム構造変異解析2020

    • Author(s)
      保坂 碧、真弓 彩夏、安井 秀、野々村 賢一、辻 寛之
    • Organizer
      日本育種学会第138回講演会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] イネ染色体添加系統におけるゲノム構造解析2020

    • Author(s)
      保坂碧, 真弓彩夏, 山口佳穂, 野々村賢一, 安井秀, 辻寛之
    • Organizer
      第61回日本植物生理学会年会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] エタノール発酵能の違いは種の違い?~南極産担子菌酵母の全ゲノム解析による種の再検討2019

    • Author(s)
      辻 雅晴
    • Organizer
      酵母細胞研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] MeCP2-mediated miR-199a processing regulates fate specification of neural stem cells2019

    • Author(s)
      Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Takuya Imamura, Kinichi Nakashima
    • Organizer
      SFN2019
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] エタノール発酵能の違いは種の違い? 南極産担子菌酵母Mrakia blollopisの全ゲノム解析による種の再検討2019

    • Author(s)
      辻雅晴, 石原潤一, 高橋 弘喜, 野口 英樹
    • Organizer
      第71回 日本生物工学会大会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Rett症候群原因因子MeCP2はmiR-199aを介して神経幹細胞の分化運命決定を制御する2019

    • Author(s)
      中嶋秀行、辻村啓太、入江浩一郎、今村拓也、中島欽一
    • Organizer
      第42回日本分子生物学会年会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] A new approach for de novo germline mutations using a mutation accumulation mouse model2019

    • Author(s)
      Arikuni Uchimura, Mayumi Higuchi, Yasunari Satoh, Yohei Minakuchi, Takahiro Tsuji, Masaaki Imanaka, Akiko Miura, Atsushi Toyoda, Takeshi Yagi
    • Organizer
      日本放射線影響学会第62回大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Functional analysis of MeCP2, the Rett syndrome responsible factor, mediated by microRNA in neural stem cells fate specification2019

    • Author(s)
      Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Takuya Imamura, Kinichi Nakashima
    • Organizer
      幹細胞シンポジウム
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Allium cepaにおける全ゲノム解読に向けた取り組みについて2018

    • Author(s)
      執行正義・Mostafa Abdelrahman・佐藤修正・平川英樹・辻村真衣・寺地徹・豊田敦
    • Organizer
      園芸学会平成30年度春季大会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] マウスの生殖系列で発生する挿入欠失変異の発生頻度とその特徴2018

    • Author(s)
      内村有邦、樋口真弓、水口洋平、佐藤康成、辻隆弘、中本芳子、今中正明、三浦昭子、豊田敦、八木健
    • Organizer
      日本放射線影響学会第61回大会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Functional analysis of MeCP2, the Rett syndrome responsible factor, mediated by microRNA in neural stem cells2018

    • Author(s)
      H Nakashima, K Irie, K Tsujimura, T Imamura, K Nakashima
    • Organizer
      3rd Gage Lab symposium
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] マウス生殖系列で発生するde novo変異から見る哺乳類ゲノムの進化2018

    • Author(s)
      内村有邦、樋口真弓、水口洋平、松本拡高、若山清香、若山照彦、佐藤康成、福村龍太郎、辻隆弘、今中正明、中本芳子、三浦昭子、権藤洋一、豊田敦、八木健
    • Organizer
      第41回日本分子生物学会年会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] クロマチン高次ドメイン構造分断機構の解明とiPS細胞におけるその応用2018

    • Author(s)
      辻村太郎、高瀬敦、吉川真弘、佐野悦子、高戸毅、林松彦、豊田敦、岡野栄之、菱川慶一
    • Organizer
      第17回日本再生医療学会総会
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Tfap2c-Bmp7遺伝子座で互いに反目方向に並ぶ2つのCTCF結合クラスターは、クロマチンの隣接コンタクトドメインを分断し、かつ内部コンタクトパターンに関与する2017

    • Author(s)
      辻村太郎、高瀬敦、吉川真弘、佐野悦子、高戸毅、豊田敦、岡野栄之、菱川慶一
    • Organizer
      第40回日本分子生物学会年会(ConBio2017)
    • Data Source
      KAKENHI-PROJECT-16H06279
  • [Presentation] Immigration study on ALS/PDC of Kii, Japan2017

    • Author(s)
      Yasumasa Kokubo, Ryogen Sasaki, Satoru Morimoto, Maya Mimuro, Ishiura, Masato Hasegawa, Mari Yoshida, Shoji Tsuji, Shigeki Kuzuhara
    • Organizer
      28th International Symposium on ALS/MND
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25305030
  • [Presentation] Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs.2016

    • Author(s)
      Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
    • Organizer
      International Congress of Human Genetics
    • Place of Presentation
      Kyoto
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26253054
  • [Presentation] Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs.2016

    • Author(s)
      Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      Kyoto, Japan
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26253054
  • [Presentation] Preliminary genome-wide association analysis of ALS/PDC in Kii Peninsula of Japan2016

    • Author(s)
      Hiroyuki Ishiura, Yasumasa Kokubo, Shigeki Kuzuhara, Jun Mitsui, Yoko Fukuda, Katsushi Tokunaga, Kenju Hara, Masatoyo Nishizawa, Ryozo Kuwano, Jun Goto, Shoji Tsuji
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター、神戸ポートピアホテル(兵庫県・神戸市)
    • Year and Date
      2016-05-18
    • Data Source
      KAKENHI-PROJECT-25305030
  • [Presentation] エクソーム解析による遺伝的異質性の高い疾患に対する遺伝子検査2013

    • Author(s)
      三井 純,後藤 順,辻 省次
    • Organizer
      第20回日本遺伝子診療学会大会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] JASPAC. 常染色体劣性遺伝が疑われた遺伝性痙性対麻痺症例のexome解析2013

    • Author(s)
      石浦 浩之,高 紀信,嶋崎 晴雄,三井 純,高橋 祐二,後藤 順,吉村 淳,土井 晃一郎,森下 真一,佐々木 秀直,瀧山 嘉久,辻省次
    • Organizer
      第58回日本人類遺伝学会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] パーソナルゲノム解析が医療を変貌させる2013

    • Author(s)
      三井 純,辻 省次
    • Organizer
      第85回日本遺伝学会市民公開講座
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] SORL1 is Genetically Associated With Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians.2013

    • Author(s)
      Miyashita A, Kuwano R, Schellenberg G, Ihara Y, Kanazawa I, Tsuji S, Yamamoto K, Tokunaga K, Nishida N, Yoshida M, Pericak-Vance M, Haines J, Mayeux R, St. George-Hyslop P, Kim JW, Takahashi S, Wang LS, Jun G, Koike A, Farrer L
    • Organizer
      AAIC
    • Place of Presentation
      米国ボストン
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] COQ2変異は家族性・孤発性多系統萎縮症と関連する2013

    • Author(s)
      三井 純,松川 敬志,石浦 浩之,福田 陽子,市川 弥生子,伊達 英俊,Budrul Ahsan,中原 康雄,百瀬 義雄,高橋 祐二,岩田 淳,後藤 順,The MSA Research Collaboration,辻 省次
    • Organizer
      第58回日本人類遺伝学会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] 近位筋優位運動感覚ニューロパチー(HMSN-P)の病因遺伝子2013

    • Author(s)
      石浦 浩之, 辻 省次
    • Organizer
      第54回神経学会学術大会シンポジウム
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] Molecular genetics of multiple system atrophy: results from the Japan Multiple System Atrophy Research Consortium.2013

    • Author(s)
      JAMSAC (Japan Multiple System Atrophy Research Consortium), Jun Mitsui, Yaeko Ichikawa, Jun Goto, Shoji Tsuji
    • Organizer
      17th International Congress of Parkinson’s Disease and Movement Disorder
    • Place of Presentation
      Sydney, Australia
    • Data Source
      KAKENHI-PROJECT-221S0002
  • [Presentation] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P).2012

    • Author(s)
      Ishiura, H. 他29名,Tsuji, S.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2012-11-06
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Presentation] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P).2012

    • Author(s)
      Ishiura, H. 他29名,Tsuji, S.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2012-11-06
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [Presentation] Nation-Wide Survey on the Epidemiology and the Natural History of Spinocerebellar Degenerations in Japan2009

    • Author(s)
      Shoji Tsuji
    • Organizer
      V International Workshop on Machado-Joseph Disese
    • Place of Presentation
      S.Miguel, Portugal
    • Data Source
      KAKENHI-PROJECT-17019006
  • [Presentation] Nation-Wide Survey on the Epidemiology and the Natural History of Spinocerebellar Degenerations in Japan2009

    • Author(s)
      Shoji Tsuji
    • Organizer
      V International Workshop on Machado-Joseph Disese
    • Place of Presentation
      S.Miguel, Portugal
    • Data Source
      KAKENHI-PROJECT-16065101
  • [Presentation] Heterozygous Rare Variants Associated with Gaucher Disease Confer Robust Susceptibility to Parkinson Disease2008

    • Author(s)
      Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji, S
    • Organizer
      The 60th American Academy of Neurology Annual Meeting. Philadelphia
    • Place of Presentation
      The United States of America
    • Data Source
      KAKENHI-PROJECT-20249048
  • [Presentation] Identification of novel heterozygous nonsynonymous variations of(ANG),VEGF and ALS2 in SporadicALS(SALS)patients and its imphcation in the genetic risks of SALS2007

    • Author(s)
      Y. Takahashi, J, Goto, S. Tsuji,
    • Organizer
      57th Annual Meeting of American Scoeity of Human Genetics
    • Place of Presentation
      San Diego,USA
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Genome-wide association studies on Multiple system atrophy (MSA).2007

    • Author(s)
      Y. Nakahara1, Y. Momose Y. Takahashi, J. Goto1, S. Tsuji
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] comprehensive mutational analysis system using resequencing microarray delineates molecular epidemiology of hereditary spastic paraplegias in the Japanese population2007

    • Author(s)
      H. Ishiura, Y. Takahashi, J. Goto, S. Tsuji. A.
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Genome-wide association stμdies on MUItiple system atrophy(MSA)2007

    • Author(s)
      Y. Nakaharal, Y. Momose Y. Takahashi, J. Gotol, S. Tsuji
    • Organizer
      57th Annual Meeting of American Scoeity of Human Genetics
    • Place of Presentation
      San Diego,USA
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Comprehensive analysis of breakpoints of PARK2 rearrangements in patients with autosomal recessive juvenile parkinsonism (AR-JP)employing a high-density tiling array-based comparative genomic hybridization (array-CGH) system.2007

    • Author(s)
      J. Mitsui, Y. Takahashi1, H. Tomiyama, H. Yoshino, J. Goto, Y. Mizuno, N. Hattori, S. Tsuji1.
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Japan A comprehensive mutational analysis sysbem using resequencing microarray dekmeates molecular epidemiology of hererhtary spastic paraplegias hl the Japanese population2007

    • Author(s)
      H. lshiura, Y. Takahashi, J. Goto, S. Tsuji
    • Organizer
      57th Annual Meeting of American Scoeity of Human Genetics
    • Place of Presentation
      San Diego,USA
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Identification of novel heterozygous nonsynonymous variations of (ANG), VEGF and ALS2 in sporadic ALS (SALS) patients and its implication in the genetic risks of SALS.2007

    • Author(s)
      Y. Takahashi, J. Goto, S. Tsuji.
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Identification of novel heterozygous nonsynonymous variations of (ANG), VEGF and ALS2 in sporadic ALS (SALS) patients and its implication in the genetic risks of SALS2007

    • Author(s)
      Y. Takahashi, J. Goto, S. Tsuji
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] A comprehensive mutational analysis system using resequencing microarray delineates molecular epidemiology of hereditary spastic paraplegias in the Japanese population.2007

    • Author(s)
      H. Ishiura, Y. Takahashi, J. Goto, S. Tsuji.
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Comprehensive analysis of breakpoints of PARK2 rearrangements in patients with autosomal recessive juvenile parkinsonism(AR-JP)employing a high-density tiling array-based comparative genomic hybri(lization(array-CGH)system2007

    • Author(s)
      J. Mitsui, Y. Takahashil, H. Tomiyama, H. Yoshino, J. Goto, Y. Mizuno, N. Hattori, S. Tsujil
    • Organizer
      57th Annual Meeting of American Scoeity of Human Genetics
    • Place of Presentation
      San Diego,USA
    • Data Source
      KAKENHI-PROJECT-18209032
  • [Presentation] Genome-wide association studies on Multiple system atrophy (MSA)2007

    • Author(s)
      Y. Nakaharal, Y. Momose Y. Takahashi, J. Gotol, S. Tsuji
    • Organizer
      57th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18209032
  • []

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  • 1.  MIYATAKE Tadashi (50048998)
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  • 2.  KUWANO Ryozo (20111734)
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  • 3.  SAKAKI Yoshiyuki (10112327)
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  • 4.  SUGANO Sumio (60162848)
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  • 5.  GOTO Jun (10211252)
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  • 250.  高 紀信
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  • 253.  中村 亮一
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  • 254.  植畑 拓也
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