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KURE Shiego  呉 繁夫

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… Alternative Names

呉 繁夫  クレ シゲオ

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Researcher Number 10205221
Other IDs
External Links
Affiliation (Current) 2025: 東北大学, 医学系研究科, 学術研究員
Affiliation (based on the past Project Information) *help 2021: 東北大学, 医学系研究科, 客員教授
2016 – 2020: 東北大学, 医学系研究科, 教授
2011 – 2015: 東北大学, 医学(系)研究科(研究院), 教授
2013: 東北大学
2013: 東北大学, 医学系研究科, 教授 … More
2011 – 2012: 東北大学, 大学院・医学系研究科, 教授
2011: 東北大学, 医学系研究科, 教授
2010: Tohoku University, 大学院・医学系・研究科, 准教授
2007 – 2010: Tohoku University School of Medicine, Tohoku University School of Medicine, Associate Professor
2006: Tohoku-University Graduate School of Medicine, Associate professor, 大学院医学系研究科, 助教授
2004 – 2005: 東北大学, 大学院・医学研究科, 助教授
2000 – 2005: TOHOKU UNIV, MEDICAL GENETICS, ASSOCIATE PROFESSOR, 大学院・医学系研究科, 助教授
1999: MEDICAL GENETICS, TOHOKU UNIV., ASSOCIATE RESEARCHER, 大学院・医学系研究科, 助手
1991 – 1998: 東北大学, 医学部, 助手
1993: 東北大学, 医学部・病態代謝, 助手
1990 – 1991: 東北大学, 医学部・病態代謝学教室, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Human genetics / Biological Sciences / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related
Except Principal Investigator
Pediatrics / Pediatrics / Epidemiology and preventive medicine / Human genetics / Human genetics / Public health/Health science
Keywords
Principal Investigator
遺伝子検査 / モヤモヤ病 / 遺伝子変異 / hyperglycinemia / 高グリシン血症 / もやもや病 / RNF213遺伝子 / 小児神経学 / 創始者変異 / GCSH … More / AMT / GLDC / glycine decarboxylase / deletion / Alu repeats / NMDA受容体 / RNF213遺伝子多型 / 遺伝子診断 / 発症機序 / 疾患感受性遺伝子 / 動物モデル / 全エクソーム解析 / 一次性ネフローゼ症候群 / 同胞発症例 / ステロイド依存性 / 同胞発症家系 / ゲノム解析 / ステロイド感受性 / ネフローゼ症候群 / 血清バイオマーカー / 高頻度遺伝子変異 / 発症リスク / 血中バイオマーカー / SNPマイクロアレイ / 一塩基多型 / 発症リスク評価 / 頭部MRI検査 / 遺伝子多型 / 頭部MRI / 東北メディカル・メガバンク / 頭部MRI/MRA検査 / RNF213遺伝子変異 / 早期介入 / MMP9 / 高頻度変異 / 発症リスク予測 / RNF213 / リスク診断 / mutation spectrum / gene analysis / cerebrospinal fluids / neonatal seizures / 髓液 / 変異スペクトラム / 遺伝子解析 / 髄液 / 新生児けいれん / 高グルシン血症 / increased aggresiveness / hyperactivity / seizure sencitivity / abnormal behavior / inhibitory glycine receptor / model mice / NMDA glutamate receptor / グリシン脳症 / 攻撃性亢進 / 多動 / 易けいれん性 / 行動異常 / 抑制性グリシン受容体 / モデルマウス / NMD型Aグルタミン酸受容体 / splicing error / gene mutation / transient hyperglycinemia / GCSH gene / disturbances in central nervous system / glycine cleavage system / 染色体マッピング / 常染色体劣性遺伝 / 大家族 / イスラエル / 遺伝子多型マーカー / グリシン脱炭酸素遺伝子 / グリシン開裂素系 / スプライス異常 / 一過性高グリシン血症 / GCSH遺伝子 / 中枢神経障害 / グリシン開裂酵素系 / homologous recombination / non-ketotic hyperglycinemia / homologous recommbination / nonkefotic hyperglycimemia / ghycime decarboxylase / Homologous recombination / Nonketotic hyperglycinemia / homalogaus recombination / non-ketotic hyperglycimemia / glyicme decarboxylase / CA repeat marker / chromosomal location / transgenic mouse / ES cells / glycine metabolism / 相同組み換え / in sity hybridization / ノックアウトマウス / 非ケトーシス型高グリシン血症 / CAリピートマーカー / 染色体座位 / トランスジェニックマウス / ES細胞 / グリシン代謝 / MRアンギオグラフィー / 内科系臨床医学 / 保因者診断 / ノックアウト・マウス / 内頚動脈結紮 / 血管内皮細胞 / 安定同位元素 / 先天代謝異常 / 分析化学 / 遺伝子 / 酵素 / 酵素活性測定 / 13C / アミノ酸代謝異常症 / 呼気試験 / 安定同位体 / 先天代謝異常症のin vivo診断法 / 栄養学 / 小児代謝 / ハプロタイプ解析 / イオンチャンネル / 不完全浸透 / 欠失変異 / 家系解析 / 病因遺伝子 / 難聴 / 多型マーカー / 候補遺伝子 / リンケージ解析 / 大家系 / ラット脳 / cDNA クローニング / リンパ芽球 / im situ hybridization / グリシン開裂酵素 … More
Except Principal Investigator
遺伝子診断 / 遺伝子変異 / フェニルケトン尿症 / SLC25A13 / NICCD / GLUT2 / 遺伝子多型 / 遺伝子治療 / PHENYLKETONURIA / アデノウイルスベクター / 糖原病 / ホロカルボキシラーゼ合成酵素欠損症 / プロピオニルCoAカルボキシラーゼ / プロピオン酸血症 / メチルマロン酸血症 / 遺伝子解析 / 遺伝性疾患 / シグナル伝達 / neonatal intrahepatic cholestasis / Newborn screening / citrullinemia / citrin / シトリン欠損症 / 新生児肝内胆汁うっ滞 / 新生児スクリーニング / シトルリン血症 / シトリン / DNA diagnosis / Transgenic mice / Fanconi-Bickel syndrome / ファンコニービッケル症候群 / Cre loxP system / トランスジェニックマウス / 腎性糖尿 / ドミナントネガテイブ効果 / ファンコニ・ビッケル症候群 / 単一遺伝子病 / モデル動物 / glycogen storage disease / PCR / Mutation / PKU / GSD / 糖原病1a型 / HCScDNA / ホロカルボキシラーゼ合成酵素 / Propionic Acidemia / 高グリシン血症 / 非ケトーシス型高グリシン血症 / 先天奇形症候群 / ヌーナン症候群 / 癌遺伝子 / RAS / 細胞内シグナル伝達 / 脳神経疾患 / ビタミンB6 / 免疫クロマトグラフィー / 先天性代謝異常症 / ゲノム / 遺伝学 / クラスター / 次元削減 / クラスタリング / ゲノムワイド関連解析 / クラスタ― / 遺伝子 / 自閉スペクトラム症 / 食嗜好 / 小児期 / 分子遺伝疫学 / スクリーニング / 低炭水化物食 / CTLN2 / cobalamin / methylmalonic acidemia / コバラミン / oncogene / genetic mutation / signal transduction / CFC syndrome / Costello syndrome / Noonan syndrome / Congenital anomaly syndrome / がん遺伝子 / CFC症候群 / コステロ症候群 / ガラクトース血症 / leukotrienes / complements / interleukin / haplotype / multivariate analysis / single nucleotide polymorphism / bronchial asthma / インターロイキン4受容体 / アドレナリン受容体 / ロイコトリエン受容体 / 補体 / インターロイキン / ハプロタイプ / 多変量解析 / 喘息 / Pharmacogenetics / Test strip / Immunochromalography / Point-of-care genetic diagnosis / Single nucleotide polymorphism / 薬物代謝酵素 / 遺伝薬理学 / 試験紙 / ベッドサイド遺伝子診断 / SNP / 遺伝子診断法 / renal glucisuria / Cre-loxP system / dominant-Negative effects / GLUT2 (Facilitative glucose transporter 2) / ワァンコニ・ビッケル症候群 / ドミナントネガティブ効果 / GLUT2(Facililative glucose transporter 2) / Cre-loxPシステム / patch clamp / antihistaminic agents / temperature change / abnormal channel / voltage-gated / potassium channel / sodium channel / Febrile seizure / チャネル以上 / K^+チャネル / Na^+チャネル / NA+チャネル / 抗ヒスタミン薬 / 温度変化 / パッチクランプ / チャネル異常 / 電位依存性 / K+チャネル / Na+チャネル / 熱性けいれん / pharmaconenetics / hyperglycinemia / phenylkeonuria / single gene disorders / 薬物代謝酵素多型 / Renal glucosuria / dominant negative effects / Glycogen storage disease type XI / 糖原病XI型 / GLYCOGEN STORAGE DISEASE / SINGLE-GENE DISORDER / RARE GENETIC DISEASES / DNADIAGNOSIS / 先天代謝異常症 / 稀少遺伝病 / Fetal gene therapy / Tetrahydrobiopterin / TaqMan-PCR / Adenovirus / Gene therapy / Phenylketonuria / キメラオリゴヌクレオチド / 胎児治療 / MEDIUM CHAIN ACYL-COA DEHYDROGENASE / GLYCOGEN STORAGE DISEASE TYPE 1A / ALLELE SPECIFIC PRIMER / SYBR-GREEN-ASA / TAQ MAN-ASA / KNOWN MUTATION / 自動既知変異検出システム / 軟骨無形成症 / Tay-Sachs病 / 糖原病1型 / Extention プライマー / Multiplex primer extension法 / 中鎖アシルCoA脱水素酸素欠損症 / フェニルケトン症 / アレル特異的プライマー / AYBR Green-ASA法 / Taq Man ASA法 / 既知遺伝子変異 / MULTIPLE CARBOXYLASE DEFICIENCY / KINETICO / MUTATION / HOLOCARBOXYLASE SYNTHETASE DEFICIENCY / BIOTIN / ピオチン反応性 / ウエスタンブロット / ペプチド抗体 / 開始コドン / Vmax値 / Km値 / 発現蛋白 / ビオチン反応性 / Propionyl-CoA carboxylase / スプライス異常 / adenoviral vector / animal model / gene therapy / phenylketonuria / 免疫抑制剤 / COAT COLOR / SERUM PHENYLALANINE / ADNOVIRUS VECTOR / GENE THERAPY / HEPATIC ENZYME DEFICIENCY / 体毛色 / 血中フェニルアラニン値 / 肝酵素欠損症 / mass-screening / Gene diagnosis / マススクリーニング / Chaperonine / Propiony1 CoA Carboxylase / Propionic acdemia / シャペロニン / Metylmalonic Acidemia / Holocarboxylase Synthetase Deficiency / Multiplex ASPCR / Allele Specific PCR / Cloning / アレル特異的PCR / 多型診断 / short tandem repeat / 遺伝病 / 保因者診断 / STR / 変異検出法 / アレル特異的PCR法 / genetic diagnosis / mutation / holocarboxylase synthetase deficiency / HAS / holocarboxylase synthetase / biotine / multiple carboxylase deficiency / ノーザンブロット / クローニング / cDNA / 新生児マルチプルカルボキシラーゼ欠損症 / HCScDNAの発現 / PCR-SSCP / ビオチン依存症 / HCS / ビオチン / マルチプルカルボキシラーゼ欠損症 / Exon skipping / Propionyl CoA Ccrboxylase / エクソンスキッピング / Prenatal diagnosis / Glycine Cleavage System / DNA Diagnosis / Nonketotic Hyperglycinemia / 非ケト-シス型高グリシン血症 / 非ケト-シス型高グリジン血症 / 出生前診断 / DNA診断 / グリシン開裂酵素 / INHERITED DISEASE / GENETIC DIAGNOSIS / GENE ANALYSIS / GENE CLONING / MOLECULAR GENETICS / 中鎖アシルCoA脱水素酵素 / 異所性mRNA / 対立遺伝子特異的増幅法 / 乾燥濾紙血液 / 遺伝学的解析 / てんかん / 小児 / プロモーター / SCN1A / 体細胞モザイク / 微小欠失 / 非翻訳領域 / Dravet症候群 / SCN1A遺伝子 / RAF1遺伝子 / 遺伝子解析方法 / ヌーナン症候群関連疾患 / ヌーナン症候群類縁疾患 / RAF1遺伝子 / 遺伝カウンセリング / 遺伝学的検査 / 先天異常症候群 / シークエンス / Ras / i遺伝子 / MLPA法 / CRTAP / LEPRE1 / COL1A2 / COL1A1 / ビスフォスフォネート / 骨形成不全症 / 遣伝子変異 / 疾患モデルマウス / MAPK / 先天異常学 / 遺伝 / ランダム化比較試験 / IQ / グルタミン / 不器用 / 音への過敏 / 自閉症 / オーダーメイド医療 / 遺伝子検査 / ベッドサイド / 小児科診療 / テーラーメード医療 / 薬理遺伝学 / ファーマコゲノミクス / ELISA / 組み換えアデノウイルス Less
  • Research Projects

    (52 results)
  • Research Products

    (149 results)
  • Co-Researchers

    (54 People)
  •  Genomic analysis of steroid-sensitive nephrotic syndrome using sibling casesPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tohoku University
  •  Elucidation of autism etiology by combination of phenotype clustering and high-dimensional variables selection method

    • Principal Investigator
      KURIYAMA SHINICHI
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Epidemiology and preventive medicine
    • Research Institution
      Tohoku University
  •  Establishment of a simple screening method for citrin deficiency and exploration on food preferences

    • Principal Investigator
      Kuriyama Shinichi
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Epidemiology and preventive medicine
    • Research Institution
      Tohoku University
  •  Development of a simple genetic test of RNF213 to evaluate risk for moyamoya diseasePrincipal Investigator

    • Principal Investigator
      Kure Shigeo
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  RNF213 gene related intracranial findings and risk evaluation for moyamoya diseasePrincipal Investigator

    • Principal Investigator
      Kure Shigeo
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Genetic testing for risk evaluation of Moyamoya diseasePrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

    • Principal Investigator
      KOBAYASHI Tomoko
    • Project Period (FY)
      2012 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Cerebral vascular abnormality in carriers of the RNF213 risk variant detected by a new genetic testPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2012
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Conprehensive analysis of SCN1A noncoding region for epileptic disorders

    • Principal Investigator
      NAKAYAMA Tojo
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Functional analysis of RNF213 gene identified by genome-wide association studyPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defects

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Research Institute for Child Health and Development
      Tohoku University
  •  Development of a genetic test to evaluate the risk for Moyamoya diseasePrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

    • Principal Investigator
      KANNO Junko
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular analysis of congenital anomaly syndromes caused by impaired intracellular signaling pathways

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Evaluation system of residual enzymatic activity by 13C-breath test, which improves treatment of patients with inborn error of metabolismPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Effects of vitamin B6 on children with autism : a randomized controlled trial

    • Principal Investigator
      KURIYAMA Shinichi
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Public health/Health science
    • Research Institution
      Tohoku University
  •  Molecular analysis of congenital anomaly syndromes due to mutations in signal transduction pathways

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Screening of gene mutations for methylmalonic acidemia and serch for responsible gene of benign-type methylmalonic acidemia

    • Principal Investigator
      SAKAMOTO Osamu
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Strategy for prevention of development of CTLN2 in patients with citrin deficiency

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  小児科領域における遺伝子多型に基づいたオーダーメイド医療の構築

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Comprehensive mutational screening of genes maintaining the glycine concentrations in the central nervous systemPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  難聴遺伝子領域DFNA2に存在する新規病因遺伝子の同定の機能解析Principal Investigator

    • Principal Investigator
      呉 繁夫
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  Multivariate analysis of asthma susceptibility genes

    • Principal Investigator
      SUZUKI Yoichi
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Chiba University
  •  Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  染色体1q34領域にマップされた新規難聴責任遺伝子の同定と機能解析Principal Investigator

    • Principal Investigator
      呉 繁夫
    • Project Period (FY)
      2003
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  単一遺伝子病に対する新しい遺伝子診断法の開発と応用

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DEVELOPMENT OF A NOVEL POINT-OF-CARE GENETIC TESTING METHOD

    • Principal Investigator
      MATSUBARA Youichi
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGLE GENE DISORDERSPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Neurophysiological and molecular approach for evaluating mechanism of pathogenesis of febrile seizure

    • Principal Investigator
      IINUMA Kazuie
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Functional knockout of the glucose transporter 2 in mice overexpressing a dominant negative mutation

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGILE GENE DISORDERS

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Identification of a novel gene responsible for hyperglycinemiaPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DNA DIAGNOSIS OF RARE GENETIC DISEASES USING JAPANESE MICROARRAY

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  GENE THERAPY IN PHENYLKETONURIA

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  KINETIC PROPERTIES OF MUTANT HOLOCARBOXYLASE SYNTHETASES

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  AUTOMATIC DETECTION SYSTEM OF GENETIC POLYMORPHISMS

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Recurrent deletion in glycine decarboxylase gene and nonketotic hyperglycinemia Medical genetics, ResearchPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Adenovirus-mediated gene transfer in phenylketonuria model mice

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Propionic Acidemia : Mutation Analysis of the alpha-subunit of Propionyl-CoA Carboxylase.

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  フェニルケトン尿症に対する遺伝子治療の基礎的研究

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  GENE THERAPY ON HEPATIC ENZYME DEFICIENCY.

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  DEVELOPMENT AND ANALYSIS OF A MODEL MOUSE FOR NONKETOTIC HYPERGLYCINEMIAPrincipal Investigator

    • Principal Investigator
      KURE Shigeo
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Development of gene diagnosis system for screening of inherited metabolic disorders

    • Principal Investigator
      MATSUBARA Youichi
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Human genetics
    • Research Institution
      Tohoku University
  •  Rapid Detection of Known Mutations and Its Application to Carrie Testing

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1994 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Propionic acidemia : bacterial expression system for propionyl CoA carboxylase.

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  新生児一過性高グリシン血症の発症機構の解析Principal Investigator

    • Principal Investigator
      呉 繁夫
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular basis of neonatal-onset multiple carboxylase deficiency

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1993 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Propionic acidemia : Molecular analysis of beta subnit deficient Japanese petients

    • Principal Investigator
      OHURA Toshihiro
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DNA Diagnosis of Non-ketotic Hyperglycinemia

    • Principal Investigator
      TADA Keiya
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  DIAGNOSTIC METHODS BY DNA ANALYSIS OF DRIED BLOOD SPOTS AND CLASSIFICATION OF INHERITED DISEASE BY MUTANT GENOTYPES.

    • Principal Investigator
      NARISAWA K
    • Project Period (FY)
      1990 – 1992
    • Research Category
      Grant-in-Aid for Developmental Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY

All 2019 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book

  • [Book] Moyamoya Disease Explored Through RNF2132017

    • Author(s)
      Shigeo Kure (Edts.Koizumi A, Nagata K, Houkin K, Tominaga T, Miyamoto S, Kure S, Tournier-Lasserve)
    • Total Pages
      185
    • Publisher
      Springer
    • Data Source
      KAKENHI-PROJECT-15K15385
  • [Book] Moyamoya disease explored through RNF2132017

    • Author(s)
      Kure S (Edts, Koizumi A, Nagata K, Houkin K, Tominaga T, Miyamoto S, Kure S, Tourinier-Lasserve E)
    • Total Pages
      185
    • Publisher
      Springer
    • Data Source
      KAKENHI-PROJECT-15H04871
  • [Book] Moyamoya Disease Explored through RNF2132017

    • Author(s)
      Koizumi A, Nagata K, Houkin K, Tominaga T, Miyamoto S, Kure S, Tournier-Lasserve E
    • Total Pages
      185
    • Publisher
      Springer
    • ISBN
      9789811027109
    • Data Source
      KAKENHI-PROJECT-15H04871
  • [Book] ビタミン総合事典(日本ビタミン学会編)(BH4反応性フェニルアラニン水酸化酵素欠損症)2010

    • Author(s)
      呉繁夫
    • Publisher
      朝倉書店
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Book] 高グリシン血症(第3章)(小児科臨床ピクシスNo23、見逃せない先天代謝異常症)(五十嵐隆、高柳正樹編)2010

    • Author(s)
      呉繁夫
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Book] 症例から学ぶ先天代謝異常症(遠藤文夫、山口清次、高柳正樹、深尾敏博編)(日齢2より筋緊張低下、無呼吸を呈した男児)2010

    • Author(s)
      高柳俊光、呉繁夫
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Book] 「高グリシン血症」小児科臨床ピクシスNo.23(五十嵐隆、高柳正樹編)(見逃せない先天代謝異常症)2010

    • Author(s)
      呉繁夫
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Book] Encylopedic Reference of Molecular Mechanism of Disease

    • Author(s)
      Kure S, Tada K
    • Publisher
      Nonketotic hyperglycinemia(印刷中)
    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome2019

    • Author(s)
      Niitsuma Sou、Kudo Hiroki、Kikuchi Atsuo、Hayashi Takaya、Kumakura Satoshi、Kobayashi Shuhei、Okuyama Yuko、Kumagai Naonori、Niihori Tetsuya、Aoki Yoko、So Takanori、Funayama Ryo、Nakayama Keiko、Shirota Matsuyuki、Kondo Shuji、Kagami Shoji、Tsukaguchi Hiroyasu、Iijima Kazumoto、Kure Shigeo、Ishii Naoto
    • Journal Title

      International Immunology

      Volume: 32 Issue: 4 Pages: 283-292

    • DOI

      10.1093/intimm/dxz081

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K09719, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-18H02572, KAKENHI-PROJECT-17K08875, KAKENHI-PROJECT-18K19281, KAKENHI-PROJECT-19H03612, KAKENHI-PROJECT-18KK0244
  • [Journal Article] Evolution into moyamoya disease in an infant with internal carotid artery aneurysms2017

    • Author(s)
      Tanaka Ryosuke、Takahashi Satoru、Okano Satomi、Okayama Akie、Suzuki Nao、Kure Shigeo、Azuma Hiroshi
    • Journal Title

      eNeurologicalSci

      Volume: 6 Pages: 80-82

    • DOI

      10.1016/j.ensci.2017.01.002

    • NAID

      120006337814

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04871
  • [Journal Article] FDG-PET study of patients with Leigh syndrome2016

    • Author(s)
      Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake M, Saitsu H, Matsumoto N, Kure S
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 362 Pages: 309-313

    • DOI

      10.1016/j.jns.2016.02.008

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25293235, KAKENHI-PLANNED-24118007
  • [Journal Article] Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease.2016

    • Author(s)
      Kanoke A, Fujimura M, Niizuma K, Fujimura T, Kakizaki A, Ito A, Sakata H, Sato-Maeda M, Kure S, Tominaga T.
    • Journal Title

      Brain Res

      Volume: in press Pages: 1-9

    • DOI

      10.1016/j.brainres.2016.03.009

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462150, KAKENHI-PROJECT-15H04871, KAKENHI-PROJECT-15K15385
  • [Journal Article] Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus.2016

    • Author(s)
      Yuko Sato, Yurika Numata-Uematsu, Mitsugu Uematsu, Atsuo Kikuchi, Tojo Nakayama, Yosuke Kakisaka, Tomoko Kobayashi, Naomi Hino-Fukuyo, Hiroyoshi Suzuki, Yukitoshi Takahashi, Yoshiaki Saito, Naoyuki Tanuma, Masaharu Hayashi, Masaki Iwasaki, Kazuhiro Haginoya, Shigeo Kure
    • Journal Title

      Brain Dev

      Volume: - Issue: 8 Pages: 772-776

    • DOI

      10.1016/j.braindev.2016.02.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.2016

    • Author(s)
      Yu Katata, Mitsugu Uematsu, Hiroki Sato, Sato Suzuki, Tojo Nakayama, Yuki Kubota, Tomoko Kobayashi, Naomi Hino-Fukuyo, Hirotomo Saitsu, Shigeo Kure
    • Journal Title

      Brain Dev

      Volume: 38 Issue: 3 Pages: 341-345

    • DOI

      10.1016/j.braindev.2015.09.008

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.2015

    • Author(s)
      Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.
    • Journal Title

      Hum Genet.

      Volume: 134 Issue: 6 Pages: 649-658

    • DOI

      10.1007/s00439-015-1553-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25461536, KAKENHI-PROJECT-15K15024, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-26293059
  • [Journal Article] Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease.2015

    • Author(s)
      Ito A, Fujimura M, Niizuma K, Kanoke A, Sakata H, Morita-Fujimura Y, Kikuchi A, Kure S, Tominaga T.
    • Journal Title

      Brain Res

      Volume: 16 Pages: 310-320

    • DOI

      10.1016/j.brainres.2014.11.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670470, KAKENHI-PROJECT-26462150, KAKENHI-PROJECT-15K15385, KAKENHI-PROJECT-15H04871
  • [Journal Article] Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake2015

    • Author(s)
      Masako Miyashita, Mami Ishikuro, Masahiro Kikuya, Chizuru Yamanaka, Satoshi Mizuno, Masato Nagai, Yuki Sato, Taku Obara, Hirohito Metoki, Atsuo Kikuchi, Naoki Nakaya, Atsushi Hozawa, Ichiro Tsuji, Nobuo Yaegashi, Masayuki Yamamoto, Shigeo Kure and Shinichi Kuriyama
    • Journal Title

      Tohoku J. Exp. Med.

      Volume: 236 Issue: 2 Pages: 123-130

    • DOI

      10.1620/tjem.236.123

    • NAID

      130005074327

    • ISSN
      0040-8727, 1349-3329
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K15217
  • [Journal Article] Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.2015

    • Author(s)
      Inoue T, Murakami N, Sakadume S, Kido Y, Kikuchi A, Ichinoi N, Suzuki K, Kure S, Sakuta R.
    • Journal Title

      Pediatr Int.

      Volume: 57 Issue: 4 Pages: 798-801

    • DOI

      10.1111/ped.12689

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K15385, KAKENHI-PROJECT-15H04871, KAKENHI-PROJECT-25462234
  • [Journal Article] Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease.2015

    • Author(s)
      Kanoke A, Fujimura M, Niizuma K, Ito A, Sakata H, Sato-Maeda M, Morita-Fujimura Y, Kure S, and Tominaga T.
    • Journal Title

      Brain Res

      Volume: 1624 Pages: 497-505

    • DOI

      10.1016/j.brainres.2015.07.039

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462150, KAKENHI-PROJECT-15K15385, KAKENHI-PROJECT-15H04871
  • [Journal Article] Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene.2014

    • Author(s)
      Fujimura M, Sonobe S, Nishijima Y, Niizuma K, Sakata H, Kure S, Tominaga T.
    • Journal Title

      J Stroke

      Volume: 16 Issue: 2 Pages: 65-72

    • DOI

      10.5853/jos.2014.16.2.65

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670470
  • [Journal Article] ビガバトリンを第一選択に用いた結節性硬化症に伴うウエスト症候群後の1例2014

    • Author(s)
      佐藤優子, 福與なおみ、菊池敦生、中山東城、柿坂庸介、久保田由紀、遠藤若葉、小林朋子、萩野谷和裕、植松貢、沼田有里佳、土井洋、呉繁夫
    • Journal Title

      小児科臨床

      Volume: 67 Pages: 1047-1050

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation2014

    • Author(s)
      Hiroki Sato, Mitsugu Uematsu, Wakaba Endo, Tojo Nakayam, Tomoko Kobayashi, Naomi Hino-Fukuyo, Osamu Sakamoto, Haruo Shintaku, Shigeo Kure
    • Journal Title

      Brain Dev.

      Volume: 36 Issue: 3 Pages: 268-271

    • DOI

      10.1016/j.braindev.2013.04.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25461532
  • [Journal Article] Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies2014

    • Author(s)
      Hino-Fukuyo N, Haginoya K, Nakashima I , Sato DK, Takahashi T, Misu T, Fujihara K, Hirose M, Kakisaka Y, Uematsu M, Kobayashi T, Kure S
    • Journal Title

      Brain Dev

      Volume: - Issue: 9 Pages: 849-852

    • DOI

      10.1016/j.braindev.2015.02.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] Abdominal and lower back pain in pediatric idiopathic stabbing headache.2014

    • Author(s)
      Kakisaka Y, Ohara T, Hino-Fukuyo N, Uematsu M, Kure S
    • Journal Title

      Pediatrics

      Volume: 133 Issue: 1 Pages: e245-e247

    • DOI

      10.1542/peds.2013-0793

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-24659486, KAKENHI-PROJECT-25670470
  • [Journal Article] IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.2014

    • Author(s)
      Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y
    • Journal Title

      Cancer Sci.

      Volume: 105 Issue: 3 Pages: 359-62

    • DOI

      10.1111/cas.12337

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-24659486, KAKENHI-PROJECT-25670470
  • [Journal Article] Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene.2014

    • Author(s)
      Sonobe S, Fujimura M, Niizuma K, Fujimura T, Furudate S, Nishijima Y, Kure S, Tominaga T.
    • Journal Title

      Neuroreport

      Volume: 1552 Issue: 18 Pages: 64-71

    • DOI

      10.1097/wnr.0000000000000289

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670470, KAKENHI-PROJECT-26462150
  • [Journal Article] Efficacy of long term weekly ACTH therapy for intractable epilepsy2014

    • Author(s)
      Inui T*, Kobayashi T*, Kobayashi S, Sato R, Endo W, Kikuchi A, Nakayama T, Uematsu M, Takayanagi M, Kato M, Saitsu H, Matsumoto N, Kure S, Haginoya K (*:Co-first authors)
    • Journal Title

      Brain Dev

      Volume: 37 Issue: 4 Pages: 449-454

    • DOI

      10.1016/j.braindev.2014.07.004

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213 : a susceptibility gene for moyamoya disease2014

    • Author(s)
      Sonobe S, Fujimura M, Niizuma K, Nishijima Y, Ito A, Shimizu H, Kikuchi A, Arai-Ichinoi N, Kure S, T ominaga T
    • Journal Title

      Brain Res

      Volume: 1552 Pages: 64-71

    • DOI

      10.1016/j.brainres.2014.01.011

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-24659486, KAKENHI-PROJECT-24659642, KAKENHI-PROJECT-25670470, KAKENHI-PROJECT-26462150
  • [Journal Article] RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy2014

    • Author(s)
      Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-Fukuyo N, Kobayashi T, Iwasaki M, T ominaga T, Kure S, Matsumoto N
    • Journal Title

      Brain Dev

      Volume: 36(6) Issue: 6 Pages: 532-6

    • DOI

      10.1016/j.braindev.2013.07.009

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25293085
  • [Journal Article] Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations2013

    • Author(s)
      Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito-Nanjo Y, Uchiyama T, Rikiishi T, Sasahara Y, Sakamoto O, Setoguchi Y, Kure S
    • Journal Title

      Eur J Pediatr

      Volume: 172(7) Issue: 7 Pages: 953-7

    • DOI

      10.1007/s00431-013-1977-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791147, KAKENHI-PROJECT-25461532, KAKENHI-PROJECT-25860836
  • [Journal Article] RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy2013

    • Author(s)
      Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-Fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N
    • Journal Title

      Brain

      Volume: (Epub ahead of print)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791039
  • [Journal Article] Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.2013

    • Author(s)
      Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue, K.
    • Journal Title

      The Journal of Biological Chemistry

      Volume: 288 Issue: 11 Pages: 7451-7466

    • DOI

      10.1074/jbc.m112.435388

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23580417, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-24659486
  • [Journal Article] Periodic Eye Movements and Epileptic Spasms in West Syndrome2013

    • Author(s)
      Yosuke Kakisaka, Tomoko Kobayashi, Naomi Hino-Fukuyo, Mitsugu Uematsu, Yurika Numata, Masato Mori, Shigeo Kure
    • Journal Title

      J Child Neurol.

      Volume: 28 Pages: 1483-1484

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation.2013

    • Author(s)
      Watanabe Y, Sasahara Y, Ramesh N, Massaad MJ, Yeng Looi C, Kumaki S, Kure S, Geha RS, Tsuchiya S.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 132 Issue: 3 Pages: 648-655

    • DOI

      10.1016/j.jaci.2013.03.046

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659486
  • [Journal Article] Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector2013

    • Author(s)
      Horino S, Uchiyama T, So T, Nagashima H, Sun SL, Sato M, Asao A, Haji Y, Sasahara Y, Candotti F, Tsuchiya S, Kure S, Sugamura K, and Ishii N
    • Journal Title

      PLoS ONE

      Volume: 8 Issue: 8 Pages: e71594-e71594

    • DOI

      10.1371/journal.pone.0071594

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-11J06848, KAKENHI-PROJECT-24659486, KAKENHI-PROJECT-24659487, KAKENHI-PROJECT-25290047, KAKENHI-PROJECT-25860836
  • [Journal Article] 脳波上hypsarrhythmiaの出現前にspasmが6週間先行したWest症候群の1例2013

    • Author(s)
      相原悠, 福與なおみ, 柿坂庸介, 菊池敦生, 川嶋明香, 佐藤優子, 遠藤若葉, 久保田由紀, 小林朋子, 冨樫紀子, 呉繁夫
    • Journal Title

      小児科臨床

      Volume: 66 Pages: 1899-1903

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Journal Article] 総説 : てんかん症候群の疾患遺伝子up to date2012

    • Author(s)
      中山東城, 福與なおみ, 植松貢, 呉繁夫
    • Journal Title

      日本小児科学会雑誌

      Volume: 116巻9号 Pages: 1327-1336

    • Data Source
      KAKENHI-PROJECT-24791039
  • [Journal Article] Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.2012

    • Author(s)
      Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Matsubara Y, Kure S, Matsumoto N.
    • Journal Title

      Neurology

      Volume: 78 Pages: 803-810

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Journal Article] Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans2012

    • Author(s)
      Narisawa A
    • Journal Title

      Hum Mol Genet

      Volume: 21 Issue: 7 Pages: 1496-1503

    • DOI

      10.1093/hmg/ddr585

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-24659486
  • [Journal Article] Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome2012

    • Author(s)
      Uematsu M
    • Journal Title

      J Neurol Sci

      Volume: 315 Issue: 1-2 Pages: 77-81

    • DOI

      10.1016/j.jns.2011.11.025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-24659486
  • [Journal Article] Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A132012

    • Author(s)
      Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S
    • Journal Title

      Mol Genet Metab

      Volume: 105(4) Issue: 4 Pages: 553-8

    • DOI

      10.1016/j.ymgme.2011.12.024

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-24591516
  • [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012

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

      Neurology

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

    • DOI

      10.1212/wnl.0b013e318249f71f

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591117, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534, KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24240042, KAKENHI-PROJECT-24659486, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia2012

    • Author(s)
      Tsuyusaki Y
    • Journal Title

      Brain Dev

      Volume: 341 Issue: 1 Pages: 72-75

    • DOI

      10.1016/j.braindev.2011.01.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-24659486
  • [Journal Article] Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice2012

    • Author(s)
      Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki Y, Uchiyama T, Kumaki S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamura K, and Ishii N.
    • Journal Title

      PLoS ONE

      Volume: 7(6) Issue: 6 Pages: e37892-e37892

    • DOI

      10.1371/journal.pone.0037892

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591150, KAKENHI-PROJECT-23659511, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23791147, KAKENHI-PROJECT-24390118, KAKENHI-PROJECT-24659487
  • [Journal Article] Casitas B-cell lymphoma mutation in childhood T -cell acute lymphoblastic leukemia2012

    • Author(s)
      Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y
    • Journal Title

      Leuk Res

      Volume: 36(8) Issue: 8 Pages: 1009-15

    • DOI

      10.1016/j.leukres.2012.04.018

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659511, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-24791054
  • [Journal Article] Infantile Tullio Phenomenon2012

    • Author(s)
      Kakisaka Y, Hino-Fukuyo N, Miyazaki H, Kure S
    • Journal Title

      J Pediatr

      Volume: 162 Issue: 4 Pages: 880-880

    • DOI

      10.1016/j.jpeds.2012.10.049

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan2012

    • Author(s)
      Abe Y, Aoki Y, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)(Epub ahead of print) Issue: 5 Pages: 1083-1094

    • DOI

      10.1002/ajmg.a.35292

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23651022, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
  • [Journal Article] Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.2012

    • Author(s)
      Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S.
    • Journal Title

      Mol Genet Metabol

      Volume: 105 Pages: 553-558

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Journal Article] Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey2012

    • Author(s)
      Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y
    • Journal Title

      Am J Med GenetA

      Volume: 158A(5) Pages: 1083-1094

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Journal Article] Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)2011

    • Author(s)
      呉繁夫.
    • Journal Title

      Brain & Development (印刷中)

    • NAID

      10031121988

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)2011

    • Author(s)
      Kure S.
    • Journal Title

      Brain & Development

      Volume: 未定(印刷中)

    • NAID

      10031121988

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011

    • Author(s)
      Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 34-40

    • NAID

      10030657293

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011

    • Author(s)
      Kamada F, et al
    • Journal Title

      J Hum Genet

      Volume: 56(1) Issue: 1 Pages: 34-40

    • DOI

      10.1038/jhg.2010.132

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23500956, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513
  • [Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation.2010

    • Author(s)
      Kobayashi T, Kure S, et al
    • Journal Title

      Hum Mutat 30

      Pages: 284-294

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation2010

    • Author(s)
      Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y
    • Journal Title

      Human Mutation

      Volume: 31(3) Pages: 284-94

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Nonketotic Hyperglycinemia : Proposal of a Diagnostic and Treatment Strategy.2010

    • Author(s)
      Suzuki Y, Kure S, Oota M, Fukuda M.
    • Journal Title

      Pediatric Neurology 43

      Pages: 221-224

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] アミノ酸・有機酸代謝異常症を見逃していませんか?2010

    • Author(s)
      呉繁夫
    • Journal Title

      小児内科 42

      Pages: 1183-1186

    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome2010

    • Author(s)
      Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y
    • Journal Title

      J Pediatr Hematol Oncol

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies2010

    • Author(s)
      Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y
    • Journal Title

      J Hum Genet

      Volume: 55(12) Pages: 801-809

    • NAID

      10030737892

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] 非ケトーシス型高グリシン血症2009

    • Author(s)
      呉繁夫
    • Journal Title

      小児内科 41

      Pages: 355-358

    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] 小児医学最近の進歩-グリシン脳症-2009

    • Author(s)
      呉繁夫
    • Journal Title

      小児科 50

      Pages: 583-58

    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] 「非ケトーシス型高グリシン血症」小児疾患診療のための病態生理2009

    • Author(s)
      呉繁夫
    • Journal Title

      小児内科 41

      Pages: 355-357

    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl : A Long-Term Follow-Up Study2009

    • Author(s)
      Hino-Fukuyo N, Kure S, et al.
    • Journal Title

      J Child Neurol 24

      Pages: 868-873

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008

    • Author(s)
      Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y
    • Journal Title

      Hum Mutat

      Volume: 29(8) Pages: 992-1006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Model mice for mild-form glycine encephalopathy : behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor2008

    • Author(s)
      Kojima-ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y
    • Journal Title

      Pediatr Res

      Volume: 64 Pages: 228-233

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome2008

    • Author(s)
      Narumi Y, Aoki Y, Niihori T, Sakurai M, Cave H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y
    • Journal Title

      J Hum Genet

      Volume: 53 Pages: 834-841

    • NAID

      10021929483

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Association of the GABRB3 gene with nonsyndromic oral clefts2008

    • Author(s)
      Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, Matsubara Y, Suzuki Y
    • Journal Title

      Cleft Palate Craniofac J

      Volume: 45(3) Pages: 261-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene2007

    • Author(s)
      Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y.
    • Journal Title

      J Pediatr Hematol Oncol 29

      Pages: 287-290

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system2007

    • Author(s)
      Oda M, Kure S, Sugawara T, Yamaguchi S, Kojima K, Shinka T, Sato K, Narisawa A, Aoki Y, Matsubara Y, Omae T, Mizoi K, Kinouchi H.
    • Journal Title

      Stroke 38

      Pages: 2157-2164

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis2007

    • Author(s)
      Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y.
    • Journal Title

      Mol Genet Metab 91

      Pages: 384-389

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome2007

    • Author(s)
      Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
    • Journal Title

      J Med Genet A 143

      Pages: 799-807

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia2007

    • Author(s)
      Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S.
    • Journal Title

      J Med Genet 44

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006

    • Author(s)
      Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y.
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006

    • Author(s)
      Kure Sほか
    • Journal Title

      Ann Neurol 59

      Pages: 862-867

    • Data Source
      KAKENHI-PROJECT-17659308
  • [Journal Article] Rapid and non-invasive diagnosis of glycine encephalopathy by ^<13>C-glycine breath test.2006

    • Author(s)
      Kure S et al.
    • Journal Title

      Ann Neurol. 59

      Pages: 862-867

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006

    • Author(s)
      Kure S, ほか
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (glycine encephalopathy).2006

    • Author(s)
      Kure et al.
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension2006

    • Author(s)
      del Toro M, Arranz JA, Macaya A, Riudor E, Raspall M, Moreno A, Vazquez E, Ortega A, Matsubara Y, Kure S, Roig M.
    • Journal Title

      Ann Neurol 60

      Pages: 148-152

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, GCSH in nonketotic hyperglycinemia2006

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

      Hum Mutat (印刷中)

    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation2006

    • Author(s)
      Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y.
    • Journal Title

      J Hum Genet 51

      Pages: 455-460

    • NAID

      10019168005

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006

    • Author(s)
      Kure Sほか
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Data Source
      KAKENHI-PROJECT-17659308
  • [Journal Article] Rapid and non-invasive diagnosis of glycine encephalopathy by 13C-glycine breath test2006

    • Author(s)
      Kure S et al.
    • Journal Title

      Ann Neurol 59

      Pages: 862-867

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006

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

      Ann Neurol 59

      Pages: 862-7

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006

    • Author(s)
      Kure S, ほか
    • Journal Title

      Ann Neurol 59

      Pages: 862-827

    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006

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

      Hum Mutat 27

      Pages: 343-52

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (glycine encephalopathy)2006

    • Author(s)
      Kure S et al.
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006

    • Author(s)
      Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y.
    • Journal Title

      Ann Neurol 59

      Pages: 862-867

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome2006

    • Author(s)
      Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.
    • Journal Title

      Nat Genet 38

      Pages: 294-296

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.2006

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

      Hum Mutat 27

      Pages: 343-352

    • Data Source
      KAKENHI-PROJECT-17659308
  • [Journal Article] Glycine decarboxylase mutations : A distinctive phenotype of nonketolic hyperglycinemia in adults.2005

    • Author(s)
      Dinopoulos A, Kure S, Chuck G, Sato S, Gilbert D, Matsubara Y, DeGrauw T.
    • Journal Title

      Neurology 64

      Pages: 1225-1227

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Glycine decarboxylase mutations : A distinctive phenotype of nonketotic hypeglycinemia in adults.2005

    • Author(s)
      Dinopoulos A, Kure S, Chuck G, Sato S, Gilbert D, Matsubara Y, DeGrauw T.
    • Journal Title

      Neurology 64

      Pages: 1426-1430

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Nonketotic hyperglycinemia : Pathophysiological study2005

    • Author(s)
      Tada K, Kure S
    • Journal Title

      Proc Jpn Acad Ser B 81

      Pages: 411-417

    • NAID

      130000093813

    • Data Source
      KAKENHI-PROJECT-17591067
  • [Journal Article] Glycine cleavage system in neurogenic regions2004

    • Author(s)
      Ichinohe A, Kure S, et al.
    • Journal Title

      Glycine cleavage system in neurogenic regions 19

      Pages: 2365-2370

    • NAID

      120005312462

    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Glycine cleavage system in neurogenic regions2004

    • Author(s)
      Ichinohe A, Kure S, Mikawa S, Ueki T, Kojima K, Fujiwara K, Iinuma K, Matsubara Y, Sato K.
    • Journal Title

      Eur J Neurosci 19

      Pages: 2365-2370

    • NAID

      120005312462

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Persistent non-ketotic hyperglycinemia with transient or absent symptoms due to a homozygous A802V GLDC mutation.2004

    • Author(s)
      Korman SH, Kure S et al.
    • Journal Title

      Ann Neurol 56

      Pages: 139-143

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Glycine cleavage system in neurogenic regions2004

    • Author(s)
      Ichinohe A, Kure S, et al.
    • Journal Title

      Eur J Neurosci 19

      Pages: 2365-2370

    • NAID

      120005312462

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Mild variant of nonketotic hyperglycinemia with typical neonatal presentations : Mutational and the in vitro expression analyses in two patients.2004

    • Author(s)
      Kure S, Ichinohe A, Kojima K, Sato K, Kizaki Z, Inoue F, Yamanaka C, Matsubara Y.
    • Journal Title

      J Pediatr 144

      Pages: 827-829

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Glycine cleavage system in neurogenic regions2004

    • Author(s)
      Ichinohe A, Kure S, et al.
    • Journal Title

      Glycine cleavage system in neurogenic regions 19

      Pages: 2365-2370

    • NAID

      120005312462

    • Data Source
      KAKENHI-PROJECT-16012203
  • [Journal Article] Persistent non-ketotic hyperglycinemia with transient or absent symptoms due to a homozygous A802V GLDC mutation.2004

    • Author(s)
      Korman SH, Boneh A, Ichinohe A, Kojima K, Ergaz Z, Gomori JM, Gutman A, Kure S.
    • Journal Title

      Ann Neurol 56

      Pages: 139-143

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Persistent non-ketotic hyperglycinemia with transient or absent symptoms due to homozygous A802V GLDC mutation.2004

    • Author(s)
      Korman SH, Kure S et al.
    • Journal Title

      Ann Neurol 19

      Pages: 139-143

    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Mild variant of nonketotic hyperglycinemia with typical neonatal presentations2004

    • Author(s)
      Kure S, Ichinohe A, et al.
    • Journal Title

      J Pediatr 144

      Pages: 827-829

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Persistent non-kenotic hyperglycinemia with transient or absent symptoms due to a homozygous A802V GLDC mutation.2004

    • Author(s)
      Konnan SH, Kure S et al.
    • Journal Title

      Ann Neurol 19

      Pages: 139-143

    • Data Source
      KAKENHI-PROJECT-16012203
  • [Journal Article] Mutation detection of GJB2 using IsoCode nd real-time quantitative PR reaction with SYBR Green I for newborn hearing screening.2004

    • Author(s)
      Kudo T, Oshima T, Kure S, et al.
    • Journal Title

      Laryngoscope 114

      Pages: 1299-1304

    • Data Source
      KAKENHI-PROJECT-16012203
  • [Journal Article] Mutation detection of GJB2 using IsoCode nd real-time quantitative PCR reaction with SYBR Green I for newborn hearing screening.2004

    • Author(s)
      Kudo T, Oshima T, Kure S, et al.
    • Journal Title

      Laryngoscope 114

      Pages: 1299-1304

    • Data Source
      KAKENHI-PROJECT-15591080
  • [Journal Article] Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.2003

    • Author(s)
      Matsubara Y, Kure S.
    • Journal Title

      Hum Mutat 22

      Pages: 166-172

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [Journal Article] Detection of single nucleotide substitution by CASSOH with immunochromatographic strip.2003

    • Author(s)
      Matsubara Y, Kure S
    • Journal Title

      Hum Mutat 22

      Pages: 166-172

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [Journal Article] The Ras/MAPK syndromes: novel roles of the RAS pathway in humna genetic disorders

    • Author(s)
      Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
    • Journal Title

      Hum Mutat (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18390296
  • [Presentation] 機械学習を用いたクラスタリングによる自閉スペクトラム症の原因遺伝子の探索2019

    • Author(s)
      永井雅人、成田暁、水野聖士、荻島創一、田宮元、植木優夫、櫻井利恵子、牧野悟士、小原拓、石黒真美、山中千鶴、松原博子、村上慶子、小林朋子、小林美佳、寳澤篤、菊谷昌浩、目時弘仁、呉繁夫、栗山進一
    • Organizer
      第29回日本疫学会学術総会
    • Data Source
      KAKENHI-PROJECT-16H05242
  • [Presentation] 同胞発症家系を用いたステロイド感受性ネフローゼ症候群の遺伝的背景の解析2019

    • Author(s)
      呉 繁夫
    • Organizer
      日本腎臓学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19H03612
  • [Presentation] 8q22.3領域の微細欠失を認めた女児例2015

    • Author(s)
      小林朋子・菊池敦生・森田浩之・市野井那津子・佐藤亮・呉繁夫・川目裕
    • Organizer
      第38回日本小児遺伝学会学術集会
    • Place of Presentation
      パシフィコ横浜会議センター(神奈川・横浜)
    • Year and Date
      2015-07-25
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] マイクロアレイ染色体検査がもたらす心理社会的影響~症例報告~2015

    • Author(s)
      小林朋子・菊池敦生・市野井那津子・佐藤亮・呉繁夫・川目裕
    • Organizer
      第39回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      三井ガーデンホテル千葉(千葉・千葉)
    • Year and Date
      2015-06-25
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] DYNC1H1遺伝子に新規変異を同定した大脳皮質形成異常と両下肢近位筋優位の筋萎縮を認める家族例2015

    • Author(s)
      小林朋子・萩野谷和裕・植松貢・中山東城・福與なおみ・佐藤優子・久保田由紀・宮武聡子・才津浩智・松本直通・呉繁夫
    • Organizer
      第57回日本小児神経学会総会
    • Place of Presentation
      帝国ホテル大阪(大阪・大阪)
    • Year and Date
      2015-05-28
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease2013

    • Author(s)
      Kure S
    • Organizer
      Kure S in 3rd Inetrnational Moyamoya disease Meeting
    • Place of Presentation
      Sapporo, Japan
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390267
  • [Presentation] RBPJ 遺伝子異常を認めたてんかんを伴う近位4p 欠失症候群の一例2013

    • Author(s)
      中山東城, 才津浩智, 遠藤若葉, 菊池敦生, 植松貢, 萩野谷和裕, 福與なおみ, 小林朋子, 岩崎真樹, 冨永悌二, 呉繁夫, 松本直通
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      仙台
    • Year and Date
      2013-10-22
    • Data Source
      KAKENHI-PROJECT-24791039
  • [Presentation] Drave症候群におけるStiripentolの治療効果の検討2013

    • Author(s)
      小林朋子・中山東城・植松貢・福與なおみ・久保田由紀・佐藤優子・菊池敦生・呉繁夫
    • Organizer
      第47回日本てんかん学会学術集会
    • Place of Presentation
      北九州
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease2013

    • Author(s)
      Kure S.
    • Organizer
      in 3rd Inetrnational Moyamoya disease Meeting
    • Place of Presentation
      Sapporo, Japan
    • Invited
    • Data Source
      KAKENHI-PROJECT-24659486
  • [Presentation] SLC2A1遺伝子変異を同定した古典型GLUT1欠損症候群の1例2013

    • Author(s)
      小林朋子・植松貢・中山東城・福與なおみ・菊池敦生・佐藤優子・守屋充司・佐藤亮・柿坂庸介・呉繁夫
    • Organizer
      第55回日本小児神経学会総会
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] SLC2A1遺伝子同一変異でも表現型は多彩であることが示唆されたグルコーストランスポーター1欠損症候群の1例2013

    • Author(s)
      小林朋子・植松貢・中山東城・福與なおみ・菊池敦生・守屋充司・呉繁夫
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] モヤモヤ病遺伝子を追う2013

    • Author(s)
      呉繁夫
    • Organizer
      広島先天代謝異常症治療研究会
    • Place of Presentation
      広島
    • Year and Date
      2013-02-08
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease2012

    • Author(s)
      Kure S.
    • Organizer
      Genetics and Genomics of Vascular Disease Workshop II in NAVBO Workshops in Vascular Biology 2012
    • Place of Presentation
      in Pacific Grove, CA, Monterey,USA
    • Invited
    • Data Source
      KAKENHI-PROJECT-24659486
  • [Presentation] モヤモヤ病感受性遺伝子の同定とその臨床的意義2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会関東地方会特別講演
    • Place of Presentation
      宇都宮
    • Year and Date
      2012-03-17
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Identification of Moyamoya disease gene and its clinical significance2012

    • Author(s)
      Kure S
    • Organizer
      GCOE (Global center of excellence) meeting
    • Place of Presentation
      Singapore
    • Year and Date
      2012-08-20
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease in Japanese patients with Moyamoya disease and its clinical significance2012

    • Author(s)
      Kure S, Kamada F , Aoki Y , Abe Y , Kikuchi A, Komatsuzaki S, Kanno J, Matsubara Y , T ouho H, Miyatake S, Matsumoto N
    • Organizer
      54 th Annual meeting of Society of Child Neurology
    • Place of Presentation
      Sapporo, Japan
    • Data Source
      KAKENHI-PROJECT-23390267
  • [Presentation] モヤモヤ病遺伝子を追う特別講演2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児科学会秋田地方会
    • Place of Presentation
      秋田市
    • Year and Date
      2012-07-21
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease2012

    • Author(s)
      Kure S
    • Organizer
      Kure S Genetics and Genomics of Vascular Disease Workshop II in NAVBO Workshops in V ascular Biology 2012
    • Place of Presentation
      in Pacific Grove, CA, Monterey
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390267
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease in Japanese patients with Moyamoya disease and its clinical significance2012

    • Author(s)
      Kure S, Kamada F, Aoki Y, Abe Y, Kikuchi A, Komatsuzaki S, Kanno J, Matsubara Y, Touho H, Miyatake S, Matsumoto N.
    • Organizer
      54th Annual meeting of Society of Child Neurology
    • Place of Presentation
      Sapporo, Japan
    • Data Source
      KAKENHI-PROJECT-24659486
  • [Presentation] Identification of Moyamoya disease gene, RNF2132012

    • Author(s)
      Kure S
    • Organizer
      (Invited lecture) NAVBO Workshops in Vascular Biology 2012
    • Place of Presentation
      Pacific Grove, CA, USA
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Noonan症候群類縁疾患と小児血液腫瘍におけるCBLの分子遺伝学的解析2012

    • Author(s)
      齋藤由佳、青木洋子、村松秀樹、今泉益栄、力石健、笹原洋二、呉繁夫、新堀哲也、小島勢二、松原洋一
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Presentation] モヤモヤ病感受性遺伝子の同定とその臨床的意義2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会総会
    • Place of Presentation
      札幌市
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] PKU研究から生まれた基本概念-新生児スクリーニング、Phe制限食、BH4反応性2011

    • Author(s)
      呉繁夫
    • Organizer
      第5回成育代謝異常症研究会
    • Place of Presentation
      国立成育医療センター(東京)
    • Year and Date
      2011-03-04
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Presentation] Identification of Moyamoya disease gene2011

    • Author(s)
      Kure S
    • Organizer
      Annual meeting of American Society of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease, RNF213 by a genome-wide association study2011

    • Author(s)
      S. Kure, F. Kamada, Y. Aoki ,Y. Abe S, Komatsuzaki, A. Kikuch, J.Kanno, T. Niihori, M. Fuji-mura,Y. Mashimo, M. Ono, N. Ishii, Y. Owada, Y. Suzuki, A. Hata,T. Tominaga, Y. Matsubara
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      モントリオール、カナダ
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Presentation] モヤモヤ病遺伝的要因の解明-疾患感受性遺伝子と創始者変異の同定2011

    • Author(s)
      呉 繁夫, 鎌田文顕, 青木洋子, 阿部裕, 新堀哲也, 小松崎匠子, 菊池敦生, 菅野潤子, 土屋滋, 松原洋一
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390267
  • [Presentation] モヤモヤ病感受性遺伝子の同定2011

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23659512
  • [Presentation] モヤモヤ病の疾患感受性遺伝子の同定2011

    • Author(s)
      呉 繁夫
    • Organizer
      第53回日本神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23390267
  • [Presentation] Epidemiological features of Costello syndrome and cardio-facio-cutaneous syndrome: findings from the first nationwide survey2011

    • Author(s)
      Y. Abe, Y. Aoki, S. Kuriyama, H. Kawame, N. Okamoto, K. Kurosawa, H. Ohashi, S. Mizuno, T. Ogata, S. Kure, T. Niihori, Y. Matsubara
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      モントリオール、カナダ
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Presentation] モヤモヤ病遺伝的要因の解明-疾患感受性遺伝子と創始者変異の同定2011

    • Author(s)
      呉繁夫、鎌田文顕、青木洋子、阿部裕、新堀哲也、小松崎匠子、菊池敦生、菅野潤子、土屋滋、松原洋一
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-24659486
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    • Author(s)
      呉繁夫
    • Organizer
      第53回日本神経学会総会
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      横浜
    • Data Source
      KAKENHI-PROJECT-24659486
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    • Author(s)
      Kure S
    • Organizer
      The 13^<th> Annual Meeting of the Infantile Seizure Society
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      Howard Plaza Hotel, Taipei, Taiwan
    • Year and Date
      2010-03-27
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      呉繁夫
    • Organizer
      第113回日本先天代謝異常症学術集会
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      盛岡市民ホール(盛岡市)
    • Year and Date
      2010-04-23
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      呉繁夫
    • Organizer
      第52回先天代謝異常学会総会
    • Place of Presentation
      大阪国際会議場(大阪府)
    • Year and Date
      2010-10-23
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      呉繁夫
    • Organizer
      第1回遺伝医学セミナー入門コース
    • Place of Presentation
      ぷらざ菜の花(千葉市)
    • Year and Date
      2010-02-18
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      呉繁夫
    • Organizer
      日本先天代謝異常学会総会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2010-10-21
    • Data Source
      KAKENHI-PROJECT-20591214
  • [Presentation] グリシンおよびフェニルアラニン代謝異常症の病態解明と治療法開発に関する研究2010

    • Author(s)
      呉繁夫
    • Organizer
      第52回先天代謝異常学会総会
    • Place of Presentation
      大阪国際会議場(大阪府)
    • Year and Date
      2010-10-21
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      呉繁夫
    • Organizer
      Epilepsy in Neurometabolic Disease
    • Place of Presentation
      Taipei, Taiwan
    • Data Source
      KAKENHI-PROJECT-20591214
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    • Author(s)
      小林朋子・萩野谷和裕・宮武聡子・才津浩智・植松貢・中山東城・福與なおみ・川目裕・呉繁夫・松本直通
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀(東京・江戸川)
    • Year and Date
      2014-11-20 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-24591498
  • [Presentation] 緩徐進行性の小脳失調を呈する2歳男児

    • Author(s)
      小林朋子・植松貢・中山東城・久保田由紀・福與なおみ・阿部裕・菊池敦生・呉繁夫
    • Organizer
      第164回東北小児神経学研究会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-24591498
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    • Author(s)
      小林朋子・植松貢・中山東城・菊池敦生・遠藤若葉・佐藤寛記・佐藤優子・鈴木智・福與なおみ・久保田由紀・川目裕・呉繁夫
    • Organizer
      第56回日本小児神経学会総会
    • Place of Presentation
      アクトシティ浜松(静岡・浜松)
    • Year and Date
      2014-05-29 – 2014-05-31
    • Data Source
      KAKENHI-PROJECT-24591498
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    • Author(s)
      小林朋子・植松貢・中山東城・菊池敦生・遠藤若葉・佐藤寛記・佐藤優子・鈴木智・福與なおみ・久保田由紀・川目裕・呉繁夫
    • Organizer
      第48回日本てんかん学会学術集会
    • Place of Presentation
      京王プラザホテル(東京・新宿)
    • Year and Date
      2014-10-02 – 2014-10-03
    • Data Source
      KAKENHI-PROJECT-24591498
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