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Tsuji Shoji  辻 省次

ORCIDConnect your ORCID iD *help
… Alternative Names

辻 省次  ツジ シヨウジ

TSUJI Shoji  辻 省次

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Researcher Number 70150612
Other IDs
External Links
Affiliation (Current) 2020: 東京大学, 医学部附属病院, 特任教授
2020: 国際医療福祉大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2019 – 2020: 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
2008: 東京大学, 医学部・神経内科, 教授 … More
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 / Biological Sciences / Neurology / Basic Section 48040:Medical biochemistry-related
Except Principal Investigator
Neurology / Biological Sciences / Neurology / Psychiatric science / Molecular biology / Perception information processing/Intelligent robotics / Pediatrics
Keywords
Principal Investigator
ゲノム / 脊髄小脳変性症 / CAG repeat / CAGリピート / トランスジェニックマウス / 遺伝子 / 分子遺伝学 / 神経変性疾患 / PCR / triplet repeat … More / spinocerebellar degeneration / neurodegeneration / X染色体 / positional cloning / アルツハイマー病 / ポジショナルクローニング / 連鎖解析 / 第14染色体 / 疾患関連遺伝子 / 多型解析 / パーキンソン病 / 個人ゲノム / 脳疾患 / インフォマティクス / シーケンサー / ゲノムインフォマティクス / subtractive cloning / neurodegenerative diseases / cDNA library / トリプレットリピート / 歯状核赤核・淡蒼球ルイ体萎縮症 / 凝集体 / dentatorubral-pallidoluysian atrophy / apoptosis / Cu / SOD1 / ポリグルタミン病 / 転写障害 / 遺伝性神経変性疾患 / transcriptional dysregulation / cDNA / aprataxin / ocular motor apraxia / DNA repair / resequencing / DNA microarray / DNA chip / Xq28 / 副腎白質ジストロフィ- / heterogenous nuclear RNA / cDNA cloning / 家族性アルツハイマー病 / アポリポタンパクE / アミロイド / ダウン症 / アミロイド前駆体タンパク / 神経成長抑制因子 / アポリポタンパクE4 / 第21染色体 / 神経原線維変化 / ゲノムワイド関連解析 / ヒトゲノム配列再解析 / メディカルインフォマティクス / 微生物ゲノム / 産業微生物ゲノム / 臨床 / 微生物 / 社会医学 / 有用微生物 / 病原微生物 / ゲノムインフォーマティック / 生命倫理 / 遺伝医学 / ゲノムインフォーマティックス / 脳神経疾患 / 遺伝学 / 脳・神経 / 脳血管障害 / 連鎖漢籍 / 相関解析 / 神経変性 / 孤発性疾患 / 疾患感受性遺伝子 / Gaucher病 / Gaucher 病 / 神経病態免疫学 / プロテインアレイ / 免疫性神経疾患 / 自己抗体 / プロファイリング / 傍腫瘍性症候群 / 多系統萎縮症 / COQ2 / フラックスアナライザー / coenzyme Q10 / ミトコンドリア / 神経分子病態学 / shojitsuji-tky / ミトコンドリア機能 / スフィンゴリピドーシス / サンドホフ病 / ゴーシェ病 / 遺伝子変位 / nervous system / brain / spinal cord / molecular cloning / linkage analysis / 変性性神経疾患 / cDNAライブラリ- / 運動ニュ-ロン / サブトラクションクロ-ニング / 組織特異的遺伝子発現 / メッセンジャ-RNA / 脊髄 / アルツハイマ-病 / Neurodegenerative diseases / Nervous system / Brain / Spinal cord / Molecular cloning / Linkage analysis / Machado-Joseph病 / 歯状核赤核淡蒼球ルイ体萎縮症 / 第12染色体 / 第9染色体 / 副腎白質ジストロフィー / コスミドクローン / 発現遺伝子地図 / ゲノム解析 / hetergernous nuclear RNA / 細胞バンク / Machado-Joseph disease / dentatorubral-pallidolyusian atrophy / chromosome 14 / chromosome 12 / chromosome 9 / 胚性幹細胞 / 体細胞モザイク / ゲノムの不安定性 / 動物モデル / 遺伝性疾患 / gene targetting / Spinocerebellar degeneration / Triplet repeat / Transgenic mouse / Embryonic stem cell / Somatic mosaicism / Genomic instability / Animal models / CAGリピート病 / ポリグルタミン / アポトーシス / トランスグルタミナーゼ / 核内封入体 / 脊髄小脳変性症2型 / CAG repeat disease / polyglutamine / transglutaminase / aggregate body / nuclear inclusion / 筋萎縮性側索硬化症 / 運動ニューロン疾患 / コンフォメーション病 / Znスーパーオキシドディスムターゼ / 神経細胞変性 / ALS(amyotrophic lateral sclerosis) / Lewy body / inclusion body / conformation / familial ALS / amyotrophic lateral sclerosis / motor neuron diseases / conformational disease / Zn superoxide dismutase / aggregate bodies / transgenic mouse / 核内集積 / cAMP依存性遺伝病 / CREB依存性転写活性化 / 遺伝子発現プロファイリング / 歯状核赤核・淡倉球ルイ体萎縮症 / molecular mechanism / polyglutamine disease / transcription / animal model / CREB-依存性転写活性化 / c-fos / 転写因子 / 神経細胞死 / TAFII130 / polyglutamine diseases / nuclear accumulation / cAMP-responsive gene / CREB-dependent transcriptional activation / expression profiling / radiation hybrid panel / ポリグルタミシ病 / polygjutemine diseases / spinocerebellar ataxia / hereditary neurodegenerative diseases / DNA修復 / 一本鎖DNA修復 / アプラタキシン / XRCC1 / 眼球運動失行 / 低アルブミン血症 / 小脳 / spinoxerebellar degeneration / DNA Repair / hypoalbuminenia / hypoalbuminemia / single strand DNA break / liypoalbuminemia / cerebellum / DNAマイクロアレイ / DNAチップ / 疾患関連 / 分子遺伝子 / DNA micro array / Parkinson disease / disease-associated genes / molecular genetics / マイクロアレイ / 神経疾患 / バイオテクノロジー / Microarray / genome / nervous disease / gene / biotechnology / 低頻度バリアント / リスク遺伝子 / rare variant / 関連解析 / exome解析 … More
Except Principal Investigator
連鎖解析 / アルツハイマー病 / 遺伝子 / タウ蛋白 / 神経栄養因子 / ハンチントン病 / DRPLA / cDNA / X染色体 / 脊髄小脳変性症 / ゲノム / てんかん / Adrenoleukodystrophy / Alzheimer's disease / 老年痴呆 / グルコセレブロシダーゼ / β-グルコシダーゼ / リソソーム / 副腎白質ジストロフィー / SCA5 / 神経変性疾患 / 筋萎縮性側索硬化症 / 熱性けいれん / 家系調査 / 成長抑制因子 / マシャド・ジョセフ病 / CAGリピート / ポジショナルクローニング / 家族性アルツハイマー病 / 神経原線維変化 / 神経成長因子 / 選別輸送 / 遺伝性小脳皮質萎縮症 / マイクロサテライト多型 / Alzheimer病 / apolipoprotein E / 福山型先天性ジストロフィー / 神経細胞死 / ポリグルタミン病 / ゲノム機能解析 / データベース / 神経科学 / 脳神経疾患 / Epilepsy / gene / ion channel / 紀伊半島 / パーキンソン認知症複合 / 認知症 / パーキンソン症候群 / グアム島 / Reverse Genetics / Linking Clone / CpG Island / hn cDNA / Xq28 / 遺伝学 / 遺伝子解析 / ALDP gene / B10 / paraneoplastic / recombinant HuD protein / cytotoxic T cell / HLA class I / 傍腫瘍性神経症候群 / Neurogenesis / Guidance molecules / BDNF and visual center / Spinal and bulbar muscular atrophy / Polyglutamine diseases / Higher cortical function / Plasticity of the neuron / アルツハイマ-病 / アミロイド蛋白 / 福山型先天性筋ジストロフィー / ジョセフ病 / neuronal death / Machado-Joseph病 / hereditary progressive dystonia / parkinson病 / energy crisis / mitochondria / Machado Josseph病 / 歯状核・赤核・淡蒼球・ルイ体萎縮 / 三塩基リピート / パーキンソン病 / ミトコンドリア点変異 / ミトンドリア欠失 / エネルギークライシス / 外因・内因説 / テトラハイドロイソキノリン(TIQ) / 1-メチル-TIQ / ミトコンドリアDNAの欠失 / ミトコンドリアDNAの点変異 / 第四染色体 / 偽遺伝子発現 / コスミドcontig / 組織特異的遺伝子発現 / heterogenous nucler RNA / アルツハイマー型老年痴呆 / アミロイド前駆体蛋白 / リン酸化 / 偽遺伝子 / 結合蛋白質 / α-N-acetylgalactosaminidase / Shindler病 / Kanzaki病 / アミロイドβ蛋白 / 蛋白リン酸化 / SCA2 / 瀬川病 / GTPシクロビロラーゼI / VLDL / 皮質性小脳萎縮症 / Holemes / SCA6 / 第19染色体 / Caチャンネル / アポトーシス / NAIP / トリブレットリピートインスタビリティー / MJD / ポリグルタミン酸 / トリプレットリピートインスタビリティー / ダイナミックミューテーション / トリプレットリピート病 / 小脳変性疾患 / 脊髄性筋萎縮症 / マシャドジュセフ病 / 分子医学 / 歯状核赤核淡蒼球ルイ体萎縮症 / 生命システム / 生命シミュレーション / バイオインフォマティクス / 遺伝子ネットワーク / 表現型解析 / ゲノムオントロジー / システム生物学 / DNAシーケンシング / トランスクリプトーム / ヒト多型タイピング / 生体生命情報学 / 進化 / 微生物 / 疾患遺伝子 / シグナル伝達 / 脳神経学 / 脳神経疾愚 / 個別化治療 / polymorohism / CYP / receptor / treatment / transporter / 遺伝子タイピング / ゲノム医学研究 / インフォームド・コンセント / 履行補助者 / 匿名化 / ヒト試料 / 多施設共同研究 / アルツハイマー神経原線維変化 / TDP-43 / 酸化ストレス / タウオパチー / 次世代DNAシーケンサー / RNA-seq / ChIP-seq / de novo配列決定 / 個人ゲノム / リシーケンシング / GWAS / インフォームドコンセント / 次世代DNAシーケンサ / Transcribed sequences / 色覚蛋白遺伝子 / ヒトx染色体 / 極長鎖脂肪酸 / reverse genetics / linking clone / CpG island / transcribed sequences / ヒトX染色体 / 副腎白質ジストロフィ- / リバ-ス・ジェネティックス / メッセンジャ-RNA / cDNAライブラリ- / パルスフィ-ルド電気泳動 / DNAマ-カ- / Transcribed Sequences / Color Pigment Gene / Human X Chromosome / Very Long Chain Fatty Acid / 遺伝性神経疾患 / リバースジュネティックス / コスミドクローン / 副賢白質ジストロフィー / クロ-ニング / リバ-スジェネティックス / ポジショナルクロ-ニング / Xg28 / HEREDITARY NEURODEGENERATIVE DISEASE / REVERSE GENETICS / POSITIONAL CLONING / COSMID CLONES / ADRENOLEUKODYSTROPHY / X CHROMOSOME / XQ28 / 神経成長抑制因子(GIF) / メタロチオネイン / 金属反応部位 / ジーン・ターゲティング / cDNAクロ-ニング / 神経成長抑制因子 / gene targetting / Alzheimer's diseaase / Growth inhibitory factor (GIF) / Metallothionein / Gene targeting / Metal responsive-element / 分子機構 / 遺伝子診断 / 細胞死 / ベータたんぱく / タウたんぱく / アポEたんぱく / PHF / 老人斑 / Abeta蛋白 / β蛋白 / βアミロイド前駆蛋白 / senile dementia / molecular mechanisms / neurotrophic factors / neuronal cell death / DNA diagnosis / gene analysis / mutational analysis / X-chromosome / Mutational analysis / ゲノム研究 / ゲノム構造解析 / ゲノム情報解析 / ヒトゲノム / 枯草菌ゲノム解析 / 酵母ゲノム / Genome research / Structural analyzes / Functional analysis / Genome informatics / Human genome / Analysis of B.subtilis / Yeast genome / Database / 染色体 / 遺伝形式 / epilepsy / febrile convulsions / linkage analysis / chromosome / 21番染色体 / 22番染色体 / 11番染色体 / 全塩基配列 / 遺伝性聾DFNB8 / 遺伝性脊髄小脳変性症 / 子宮体癌 / 染色体カラーバンディング法 / ドラフトシーケンス / 遺伝性聾DFNB8・B10 / Sotos症候群 / 11q23 / ヒト21番染色体 / 進行性骨異形症 / TGFβ1遺伝子 / Bardet-Biedl症候群 / がん抑制遺伝子 / SKY法 / ヒト11q22-23領域 / S番染色体特異的BACクローン / シークエンス解析 / HLAクラス1遺伝子群 / PLACE-SSCP / SKY法の改良 / Transcriptional sequencing / 11q13領域 / シークエンス地図 / MHCクラスI領域 / 自己免疫疾患APECED / 変異検出法 / 高速大規模プラスミド調整機 / 11番染色体物理地図 / ダウン症必須領域 / 免疫グロブリン遺伝子 / HLA遺伝子群 / SCA2遺伝子 / 福山型筋ジストロフィー / 改良型SSCP法 / Chromosome 21 / Chromosome 22 / Chromosome 11 / Whole Sequence / Hereditary defness DFNB8 / Early onset ataxia / Endometrial Cancer / SCAN method / 傍腫瘍性 / リコンビナ-トHuD蛋白 / 細胞障害性T細胞 / HLAクラスI / 細胞内注射 / HLA,class I / microiniection / recombinant Yo protein / microinjection / 磁気共鳴軸索画像 / 拡散強調画像 / MRI / diffusion-weighted image / axonography / Epilepsy genes / autosomal dominant nocturnal frontal lobe epilepsy / benign familial neonatal convulsions / benign adult familial myoclonic epilepsy / 抗Yo抗体 / 抗Hu抗体 / 細胞傷害性T細胞(CTL) / 主要組織適合抗原(MHC) / T細胞受容体(TCR) / paraneoplastic neurological syndrome / anti-Yo antibody / anti-Hu antibody / cytotoxic T cell(CTL) / major histocompatibility antigen / T cell receptor(TCR) / 脳の発生・発達 / 神経可塑性 / システム回路とモデル / 神経軸索伸長 / 沈黙シナプス / 画像化 / 遺伝的危険因子 / 治療 / 高次機能 / γセクレターゼ / 行動制御機構 / 神経発生 / ガイダンス分子 / 神経伝達 / 膜内切断 / ガンマセクレターゼ / SBMA / 去勢 / 運動前野 / アミロイド前駆体 / Parkin / Friedreich様失調症 / 運転前野 / 視床 / 神経幹細胞 / シナプス / アミロイド / FTDP-17 / polyglutamine / 神経回路網 / GEFS+ / SCN1A / SCN2A / GABA receptor / Chorein / Juvenile myoclonic epilepsy / BFNC / Severe myoclonic epilepsy in infancy / Chorea-acanthocytosis / Autosomal dominant nocturnal frontal lobe epilepsy / Benign familial neonatal convulsions / Benign adult familial myoclonic epilepsy / Febrile seizure plus / Channelopathy / Functions of mutated epilepsy genes / 抗神経抗体 / 融合蛋白抗原 / 融合蛋白 / paraneopolastlc neurological syndrome / anti-neuronal antibody / recombinant antigen protein / 神経筋骨格モデル / 体性反射 / 非侵襲運動計測 / リハビリテーション / 運動シミュレーション / 筋張力データベース / 身体モデルパラメータ同定 / 筋張カデータベース / 筋骨格モデル / 運動計測 / マーカレス運動計測 / 運動最適化 / 運動データベース / 低侵襲運動計測 / 動力学計算 / 筋パラメータ / 関節パラメータ / リンクパラメータ / 運動解析 / Neuro-Musculoskeletal Model / Somatic Reflex / Noninvasive Motion Measurement / Neurology / Rehabilitation / Motion Simulation / Muscle Tension Database / Body Model Parameter Identification / シアリダーゼ / シアリドーシス / スフィンゴリピドーシス / 分子遺伝学 / 遺伝子異常 / cDNAクローニング / ライソソーム / Sialidosis / Sialidase / Sphingolipidosis / Molecular cloning / 白血病 / 家族性 / 胚細胞変異 / ETV6遺伝子 / 急性白血病 / アレイCGH / 発現アレイ / エクソーム解析 / 急性リンパ性白血病 / 発現プロファイル / 次世代シークエンサー / 難病 / 環境 / 痴呆 / 国際研究者交流 (米国) / 国際情報交換 (米国) Less
  • Research Projects

    (61 results)
  • Research Products

    (184 results)
  • Co-Researchers

    (263 People)
  •  低頻度バリアントに重点をおくアルツハイマー病の発症に関与する遺伝子の探索法開発Principal InvestigatorOngoing

    • Principal Investigator
      辻 省次
    • 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
  •  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 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Patent

  • [Journal Article] Optineurin pathology in the spinal cord of amyotrophic latoral sclerosis/parkinsonism-dementia complex patients in kii peninsula, Japan.2018

    • Author(s)
      Morimoto S, Hatsuta H, Motoyama R, Kokubo Y, Ishiura H, Tsuji S, Kuzubara S, Murayama S.
    • Journal Title

      Brain Pathol.

      Volume: 28 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] 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

      The Cerebellum

      Volume: - Pages: 664-672

    • 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] Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.2016

    • 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

      Neurobiol 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] Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation2015

    • 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

      Neuropathology and Applied Neurobiology

      Volume: 41 Pages: 276-277

    • 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] Variants associated with Gaucher disease in multiple system atrophy2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
    • Journal Title

      Annals of Clinical and Translational Neurology

      Volume: 2 Pages: 417-26

    • DOI

      10.1002/acn3.185

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24591248, KAKENHI-PROJECT-24591252, KAKENHI-PUBLICLY-25110720, KAKENHI-PUBLICLY-25129703, KAKENHI-PROJECT-25670420, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-26461311, KAKENHI-PROJECT-26461319, KAKENHI-PROJECT-15K09334, KAKENHI-PROJECT-26461303, KAKENHI-PROJECT-221S0002, KAKENHI-PROJECT-15H04842, KAKENHI-PROJECT-25461313, KAKENHI-PROJECT-25713015, KAKENHI-PLANNED-26117002, KAKENHI-ORGANIZER-26117001
  • [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

    • DOI

      10.1038/jhg.2015.3

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002
  • [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

    • DOI

      10.1002/acn3.18

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PLANNED-22129002
  • [Journal Article] A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA342015

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

      JAMA Neurol.

      Volume: 72 Pages: 797-805

    • DOI

      10.1001/jamaneurol.2015.0610

    • Peer Reviewed / 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] Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing2015

    • 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 Pages: 815-22

    • 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] Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood.2014

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

      NEUROLOGY

      Volume: 82 Pages: 482-490

    • DOI

      10.1212/wnl.0000000000000102

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-221S0002
  • [Journal Article] Heterotrimeric G proteins control stem cellproliferation 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 reports

      Volume: 15 Pages: 1202-1209

    • DOI

      10.15252/embr.201438660

    • Peer Reviewed / Acknowledgement Compliant
    • 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] Molecular epidemiology and clinical   spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses2014

    • Author(s)
      Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J and Tsuji S
    • Journal Title

      J. Hum. Genet.

      Volume: 59 Pages: 163-172

    • DOI

      10.1038/jhg.2013.139

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26461311, KAKENHI-PROJECT-221S0002
  • [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] 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] Exome sequencing shows a novel de novo mutation in ATL12014

    • 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

      Neurol Clin Neurosci

      Volume: 2 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] Genomic aspects of sporadic neurodegenerative diseases2014

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

      Biochem Biophys Res Commun.

      Volume: 452 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] A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.2014

    • 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 Miner Res.

      Volume: 29 Pages: 992-8

    • DOI

      10.1002/jbmr.2091

    • Peer Reviewed / Acknowledgement Compliant / 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] Anti-NMDA receptor encephalitis associated with transient cerebral dyschromatopsia, prosopagnosia, and lack of stereopsis.2014

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

      J Neuroophthalmol

      Volume: in press Pages: 144-148

    • DOI

      10.1097/wno.0000000000000117

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-23249048, KAKENHI-PROJECT-25430004
  • [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] Mutations of COQ2 in Familial and Sporadic Multiple System Atrophy2013

    • Author(s)
      Mitsui J, et. al.
    • Journal Title

      New Engl J Med

      Volume: 369 Pages: 233-244

    • DOI

      10.1056/nejmoa1212115

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-12F02422, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129004, KAKENHI-PLANNED-22129006, KAKENHI-PROJECT-23249049, KAKENHI-PROJECT-23591269, KAKENHI-PROJECT-23591279, KAKENHI-PROJECT-24390220, KAKENHI-PUBLICLY-25110720, KAKENHI-PROJECT-25670420, KAKENHI-PROJECT-25713015, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
  • [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 Pages: 900-5

    • 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] 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] Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 without increase in serum alpha-fetoprotein level2013

    • Author(s)
      Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S
    • Journal Title

      J Neurological Sciences

      Volume: 331 Pages: 158-160

    • DOI

      10.1016/j.jns.2013.05.018

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-25461266, KAKENHI-PROJECT-25860700, 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

    • DOI

      10.1371/journal.pone.0056120

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001, 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] Neurogenomics view of neurological diseases.2013

    • Author(s)
      Tsuji S.
    • Journal Title

      Archives of Neurology

      Volume: 70 Pages: 689-694

    • DOI

      10.1001/jamaneurol.2013.734

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001
  • [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 Pages: 129-137

    • DOI

      10.1111/cen3.12000

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249048
  • [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

      Amer. J. Med. Genet. Neuropsych. Genet.

      Volume: 159B(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] 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) Pages: 320-329

    • 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] 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] 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-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] 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] 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] 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 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] 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] 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] 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 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] 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 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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 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] 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] 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 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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. (Tsuji, S.)
    • Journal Title

      Arch Neurol. Oct;64(10)

      Pages: 1502-1508

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16063101
  • [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] 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-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] 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] 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] 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] 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] 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] 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 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] 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 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 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] 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] 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 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] 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] 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] 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 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] 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] 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 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] 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] 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] 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] 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] 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] 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 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] 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] 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] 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] 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] 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] 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] 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] 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, 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 「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] 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] 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] 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
  • [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] 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] 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] 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, 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] 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] 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] 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
  • [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] 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] 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
  • [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
  • [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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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 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] 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 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] 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] 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] 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] 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] 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] 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
  • [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
  • 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.  GOTO Jun (10211252)
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  • 6.  SUGANO Sumio (60162848)
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  • 7.  TAKAKU Humimaro (40048955)
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  • 8.  TANAKA Keiko (30217020)
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  • 9.  TAKAGI Toshihisa (30110836)
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  • 10.  NAKAMURA Yusuke (70217909)
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  • 12.  TAKAHASHI Yuji (00372392)
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  • 13.  TATEISHI Jun (70033305)
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  • 14.  IHARA Yasuo (60114386)
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    # of Collaborated Products: 1 results
  • 263.  宮武 聡子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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