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Yamagata Takanori  山形 崇倫

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YAMAGATA Takanori  山形 崇倫

YAMAGTA Takanori  山形 崇倫

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Researcher Number 00239857
Other IDs
Affiliation (Current) 2025: 自治医科大学, 医学部, 客員教授
Affiliation (based on the past Project Information) *help 2023: 自治医科大学, 医学部, 客員教授
2011 – 2022: 自治医科大学, 医学部, 教授
2007 – 2008: Jichi Medical University, 医学部, 准教授
2004 – 2006: Jichi Medical School, Department of Pediatrics, Associate Professor, 医学部, 助教授
2000 – 2003: 自治医科大学, 医学部, 講師 … More
1998: 自治医大, 医学部, 講師
1996 – 1997: 自治医科大学, 医学部, 講師
1993 – 1995: 自治医科大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related
Except Principal Investigator
Pediatrics / Pediatrics
Keywords
Principal Investigator
セクレチン受容体 / セクレチン / 自閉症 / Rett症候群 / 遺伝子治療 / 概日リズム関連遺伝子 / 自閉スペクトラム症 / FOXP2 / MBD1 / secretin receptor … More / secretin / ノックアウトマウス / GRPR / EXT1 / シナプス足場蛋白 / マイクロアレーCGH / G蛋白結合型受容体 / シナプス / 自閉性障害 / MECP2 / 遺伝子解析 / 脆弱X症候群 / 精神遅滞 / 被殻 / ドパミン / AAVベクター / 脳機能解析 / アデノ随伴ウィルスベクター / AADC欠損症 / 治療 / MECP2関連疾患 / 神経発達症 / AAV9 / miRNA / MECP2重複症候群 / オキシトシン / 学習障害 / NR!D! / 染色体コピー数多型 / 自閉症スペクトラム / 概日リズム / 染色体微小変化 / 染色体微小変異 / PER3 / マイクロアールエヌエー / マイクロRNA / Knockout mouse / Autism / セクレチン受容体ノックアウトマウス / Hereditary Multiple Exostosis / G-protein coupled receptor / mutation analysis / autism / 家族性多発性外骨腫 / GRRP / モデルマウス / 候補遺伝子解析 / CNV / 病因遺伝子 / コピー数多型(CNV) / LIN7 / 足場蛋白 / 遺伝子変異 / コピー数多型 / 自閉症スペクトラム障害 / DLX6 / DLX5 / エピジェネティクス / RNA arbitrarily primed PCR法 / 分子生物学 / 48kDaサブユニット / 糖鎖転位酵素 / 先天性N-結合型糖鎖転移不全症候群 / 三塩基対反復配列 / 精神遅延 / 三塩基対繰り返し配列 / レチノイン酸 / ホメオボックス遺伝子 / 神経発生 / 先天異常 … More
Except Principal Investigator
MBD1 / 自閉症 / CTG)n / (CAG / WNT / FOXP2 / 自閉性障害 / 家族性精神遅滞 / 精神遅滞 / 脆弱X症候群 / autism / WNT2 / fragile X syndrome / fragile X syndrome E / fragile X syndrome A / unstable DNA / 不安定DNA / 大脳皮質 / 自閉性疾患 / 神経細胞 / 大脳皮質構築 / WNT signal / methyl-CpG binding protein / GPR85 / 染色体7q31 / 広汎性発達障害 / WNT16 / 7q31-34 / 自閉症障害 / WNTシグナル / メチル化部位結合蛋白 / chromosome 7q / MBD / MECP2 / MBD遺伝子ファミリ / forkhead遺伝子ファミリー / EXT! / セクレチン受容体 / セクレチン / 染色体7q / 不安定DNA配列 / 脆弱x症候群 / 筋強直性ジストロフィー / DRPLA / トリプレットリピート配列 / 三塩基対反復配列 / 脆弱X症候群E / 脆弱X症候群A / 発達障害 / 神経細胞移動 / Migfilin / RBFOX1 / NR1D1 / 大脳皮質形成 / セプチン / 大脳皮質発生 / 知的障害 / 発現アレイ解析 / 遺伝子発現解析 / ノックインマウス / secretin受容体 / CADM1 / シナプス形成 / トリプレットリピート伸展疾患 / トリプレットリピート / P19EC細胞 / 細胞死 / レチノイン酸 / Fas抗原 Less
  • Research Projects

    (21 results)
  • Research Products

    (130 results)
  • Co-Researchers

    (35 People)
  •  Analysis for dopaminergic system on gene therapy for AADC deficiencyPrincipal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      2023 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Jichi Medical University
  •  Development of treatment for autism spectrum disorder relating with oxytocin and miRNAPrincipal Investigator

    • Principal Investigator
      Yamagata Takanori
    • Project Period (FY)
      2019 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Jichi Medical University
  •  Genetic analysis for autism spectrum disorder and intellectual disability focusing on synaptic network abnormalityPrincipal Investigator

    • Principal Investigator
      Yamagata Takanori
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  Genetic and molecular analyses of causative genes for autism-spectrum disorders

    • Principal Investigator
      Nagata Koh-ichi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Institute for Developmental Research, Aichi Human Service Center
  •  Comprehensive analyses of causative genes for intellectual disability and autism-spectrum disorders

    • Principal Investigator
      Nagata Koh-ichi
    • Project Period (FY)
      2012 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Institute for Developmental Research, Aichi Human Service Center
  •  Analysis for the pathogenesis and the target molecules of treatment for autism focusing on G-protein coupled receptors and synaptic moleculesPrincipal Investigator

    • Principal Investigator
      YAMAGATA Takanori
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  Research on the common molecular pathology for autism

    • Principal Investigator
      MOMOI Mariko
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  candidate gene analysis for autism focusing on the epigenetic mechanismPrincipal Investigator

    • Principal Investigator
      YAMAGATA Takanori
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  Molecular and genetic analysis for autism

    • Principal Investigator
      MOMOI Mariko Y.
    • Project Period (FY)
      2003 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      JICHI MEDICAL UNIVERSITY
  •  Identification for the genes of autism by the analysis of neuronal peptides and linkage analysis.Principal Investigator

    • Principal Investigator
      YAMAGATA Takanori
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  GENE ANALYSES OF AUTISM : INVESTIGATIONS OF GENES FOR SIGNAL TRANSMISSION IN THE BRAIN

    • Principal Investigator
      MOMOI Mariko
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      JICHI MEDICAL SCHOOL
  •  Analysis of G-protein coupled receptors as candidate genes for autismPrincipal Investigator

    • Principal Investigator
      YAMAGATA Takanori
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical School
  •  Rett症候群の遺伝子解析Principal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  トリプレットリピート伸展疾患の遺伝子診断法の確立、病態解析、新たな疾患遺伝子同定

    • Principal Investigator
      桃井 真里子
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  先天性N-結合型糖鎖転移不全症候群の病因解明-糖鎖転位酵素異常の分子生物学的検討-Principal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  X染色体性精神遅滞の病因遺伝子の単離と同定Principal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  心筋発生過程における細胞死関連抗原FASの発現とレチノイン酸による制御機構の解析

    • Principal Investigator
      MOMOI Mariko
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Jichi Medical University
  •  精神遅滞の遺伝子異常の解明;神経発生における三塩基対繰り返し配列を持つ遺伝子検出Principal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  Analysie of unstable suquences of genes in mental disorders.

    • Principal Investigator
      MOMOI Mariko
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical School
  •  Development of the methods of the detection of unstable DNA sequences of genes in pediatric neurological disorders.

    • Principal Investigator
      MOMOI Mariko
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for Developmental Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical School
  •  先天異常におけるホメオボックス遺伝子とレチノイル酸関連遺伝子の発現異常の解析Principal Investigator

    • Principal Investigator
      山形 崇倫
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation

  • [Journal Article] Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant2024

    • Author(s)
      Matsumoto Ayumi、Kano Shintaro、Kobayashi Natsumi、Matsuki Mitsuru、Furukawa Rieko、Yamagishi Hirokazu、Yoshinari Hiroki、Nakata Waka、Wakabayashi Hiroko、Tsuda Hidetoshi、Watanabe Kazuhisa、Takahashi Hironori、Yamagata Takanori、Matsumura Takayoshi、Osaka Hitoshi、Mori Harushi、Iwamoto Sadahiko
    • Journal Title

      Scientific Reports

      Volume: 14 Issue: 1 Pages: 440-440

    • DOI

      10.1038/s41598-023-50668-2

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-23K07301, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08678
  • [Journal Article] Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors2024

    • Author(s)
      Miyauchi Akihiko、Watanabe Chika、Yamada Naoya、Jimbo Eriko F.、Kobayashi Mizuki、Ohishi Natsumi、Nagayoshi Atsuko、Aoki Shiho、Kishita Yoshihito、Ohtake Akira、Ohno Nobuhiko、Takahashi Masafumi、Yamagata Takanori、Osaka Hitoshi
    • Journal Title

      Scientific Reports

      Volume: 14 Issue: 1 Pages: 4820-4820

    • DOI

      10.1038/s41598-024-55293-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Journal Article] Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome2023

    • Author(s)
      Ikeda Ayaka、Hakuno Yoko、Asada Kosuke、Ikeda Takahiro、Yamagata Takanori、Hirai Masahiro
    • Journal Title

      Autism Research

      Volume: 16 Issue: 12 Pages: 2378-2390

    • DOI

      10.1002/aur.3053

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K17638, KAKENHI-PROJECT-21KK0041, KAKENHI-PROJECT-19K03236, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K18554
  • [Journal Article] Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease2023

    • Author(s)
      Koshu Kiri、Muramatsu Kazuhiro、Maru Tomomi、Kurokawa Yoshie、Mizobe Yoshitaka、Yamagishi Hirokazu、Matsubara Daisuke、Yokoyama Koji、Jimbo Eriko、Kumagai Hideki、Sanada Yukihiro、Sakuma Yasunaru、Fukushima Noriyoshi、Narita Aya、Yamagata Takanori、Osaka Hitoshi
    • Journal Title

      Brain and Development

      Volume: 45 Issue: 9 Pages: 517-522

    • DOI

      10.1016/j.braindev.2023.06.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07301
  • [Journal Article] Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause2022

    • Author(s)
      Sugitate Ryo、Muramatsu Kazuhiro、Ogata Tomomi、Goto Masahide、Hayashi Shin、Sawaura Noriko、Kawada-Nagashima Masako、Matsui Atsushi、Yamagata Takanori
    • Journal Title

      Brain and Development

      Volume: 44 Issue: 7 Pages: 486-491

    • DOI

      10.1016/j.braindev.2022.03.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Journal Article] A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia2022

    • Author(s)
      Hashiguchi Marina、Monden Yukifumi、Nozaki Yasuyuki、Watanabe Kazuki、Nakashima Mitsuko、Saitsu Hirotomo、Yamagata Takanori、Osaka Hitoshi
    • Journal Title

      Human Genome Variation

      Volume: 9 Issue: 1 Pages: 19-19

    • DOI

      10.1038/s41439-022-00198-6

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-22K12868, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K17016
  • [Journal Article] Developmental changes of the neural mechanisms underlying level 2 visual perspective‐taking: A functional near‐infrared spectroscopy study2022

    • Author(s)
      Hirai Masahiro、Sakurada Takeshi、Ikeda Takahiro、Monden Yukifumi、Shimoizumi Hideo、Yamagata Takanori
    • Journal Title

      Developmental Psychobiology

      Volume: 64 Issue: 1 Pages: 1-20

    • DOI

      10.1002/dev.22229

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K18554, KAKENHI-PROJECT-19K17016, KAKENHI-PROJECT-21KK0041, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21H03783
  • [Journal Article] The ATRX splicing variant c.21-1G>A is asymptomatic2022

    • Author(s)
      Kojima Karin、Wada Takahito、Shimbo Hiroko、Ikeda Takahiro、Jimbo Eriko F.、Saitsu Hirotomo、Matsumoto Naomichi、Yamagata Takanori
    • Journal Title

      Human Genome Variation

      Volume: 9 Issue: 1 Pages: 33-33

    • DOI

      10.1038/s41439-022-00212-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-18KK0465
  • [Journal Article] Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan2022

    • Author(s)
      Hirai Masahiro、Asada Kosuke、Kato Takeo、Ikeda Takahiro、Hakuno Yoko、Ikeda Ayaka、Matsushima Kanae、Awaya Tomonari、Okazaki Shin、Kato Toshihiro、Funabiki Yasuko、Murai Toshiya、Heike Toshio、Hagiwara Masatoshi、Yamagata Takanori、Tomiwa Kiyotaka、Kimura Ryo
    • Journal Title

      Journal of Autism and Developmental Disorders

      Volume: - Issue: 8 Pages: 3176-3184

    • DOI

      10.1007/s10803-022-05740-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K18554, KAKENHI-PROJECT-21KK0041, KAKENHI-PROJECT-21H03783, KAKENHI-PROJECT-19K08251, KAKENHI-PUBLICLY-21H05326, KAKENHI-PROJECT-23K22257
  • [Journal Article] Intellectual disability and microcephaly associated with a novel CHAMP1 mutation2021

    • Author(s)
      Asakura Yuta、Osaka Hitoshi、Aoi Hiromi、Mizuguchi Takeshi、Matsumoto Naomichi、Yamagata Takanori
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 34-34

    • DOI

      10.1038/s41439-021-00165-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08164
  • [Journal Article] Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders2021

    • Author(s)
      Hirai Masahiro、Sakurada Takeshi、Izawa Jun、Ikeda Takahiro、Monden Yukifumi、Shimoizumi Hideo、Yamagata Takanori
    • Journal Title

      Scientific Reports

      Volume: 11 Issue: 1 Pages: 15974-15974

    • DOI

      10.1038/s41598-021-95349-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K18554, KAKENHI-PROJECT-19K17016, KAKENHI-PROJECT-21H03783
  • [Journal Article] Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency2021

    • Author(s)
      Onuki Yoshiyuki、Ono Sayaka、Nakajima Takeshi、Kojima Karin、Taga Naoyuki、Ikeda Takahiro、Kuwajima Mari、Kurokawa Yoshie、Kato Mitsuhiro、Kawai Kensuke、Osaka Hitoshi、Sato Toshihiko、Muramatsu Shin-ichi、Yamagata Takanori
    • Journal Title

      Brain Communications

      Volume: - Issue: 3

    • DOI

      10.1093/braincomms/fcab078

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K20647, KAKENHI-PROJECT-19K08258
  • [Journal Article] Gene Therapy in a Mouse Model of Niemann?Pick Disease Type C12021

    • Author(s)
      Kurokawa Yoshie、Osaka Hitoshi、Kouga Takeshi、Jimbo Eriko、Muramatsu Kazuhiro、Nakamura Sachie、Takayanagi Yuki、Onaka Tatsushi、Muramatsu Shin-ichi、Yamagata Takanori
    • Journal Title

      Human Gene Therapy

      Volume: 32 Issue: 11-12 Pages: 589-598

    • DOI

      10.1089/hum.2020.175

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Journal Article] MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene2021

    • Author(s)
      Wakabayashi Kei、Osaka Hitoshi、Kojima Karin、Imaizumi Taichi、Yamamoto Toshiyuki、Yamagata Takanori
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 10-10

    • DOI

      10.1038/s41439-021-00142-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Journal Article] Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy.2021

    • Author(s)
      Ikeda T, Kawahara Y, Miyauchi A, Niijima H, Furukawa R, Shimozawa N, Morimoto A, Osaka H, Yamagata T.
    • Journal Title

      JIMD Rep.

      Volume: 63 Issue: 1 Pages: 19-24

    • DOI

      10.1002/jmd2.12259

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20H03640, KAKENHI-PROJECT-19K08258
  • [Journal Article] Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A12021

    • Author(s)
      Nakamura Sachie、Osaka Hitoshi、Muramatsu Shin-ichi、Takino Naomi、Ito Mika、Jimbo Eriko F.、Watanabe Chika、Hishikawa Shuji、Nakajima Takeshi、Yamagata Takanori
    • Journal Title

      Gene Therapy

      Volume: 28 Issue: 6 Pages: 329-338

    • DOI

      10.1038/s41434-020-00203-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-19K17374
  • [Journal Article] Two cases of DYNC1H1 mutations with intractable epilepsy2021

    • Author(s)
      Matsumoto Ayumi、Kojima Karin、Miya Fuyuki、Miyauchi Akihiko、Watanabe Kazuhisa、Iwamoto Sadahiko、Kawai Kensuke、Kato Mitsuhiro、Takahashi Yukitoshi、Yamagata Takanori
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 8 Pages: 857-862

    • DOI

      10.1016/j.braindev.2021.05.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08914
  • [Journal Article] Valine metabolites analysis in ECHS1 deficiency2021

    • Author(s)
      Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K.
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 29 Pages: 100809-100809

    • DOI

      10.1016/j.ymgmr.2021.100809

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K07807, KAKENHI-PROJECT-20H03648
  • [Journal Article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings2021

    • Author(s)
      Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S
    • Journal Title

      J Autism Dev Disord

      Volume: なし Issue: 12 Pages: 4655-4662

    • DOI

      10.1007/s10803-021-04910-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K08258
  • [Journal Article] Does Culture Shape Face Perception in Autism? Cross-cultural Evidence of the Own-Race Advantage From the UK and Japan2020

    • Author(s)
      Hanley, M., Riby, DM., Derges, MJ, Douligeri, A., Philyaw, Z., Ikeda, T., Monden, Y., Shimoizumi, H., Yamagata, T., Hirai, M.
    • Journal Title

      Developmental Science

      Volume: 25 Issue: 5 Pages: 1-20

    • DOI

      10.1111/desc.12942

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15KK0129, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-19K17016, KAKENHI-PROJECT-18H01103
  • [Journal Article] Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy2019

    • Author(s)
      Negishi Yutaka、Ieda Daisuke、Hori Ikumi、Nozaki Yasuyuki、Yamagata Takanori、Komaki Hirofumi、Tohyama Jun、Nagasaki Keisuke、Tada Hiroko、Saitoh Shinji
    • Journal Title

      Orphanet Journal of Rare Diseases

      Volume: 14 Issue: 1 Pages: 277-277

    • DOI

      10.1186/s13023-019-1249-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-18K15682, KAKENHI-PROJECT-18K19524
  • [Journal Article] Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation2019

    • Author(s)
      Matsumoto Ayumi、Nagashima Masako、Iwama Kazuhiro、Mizuguchi Takeshi、Makino Shinji、Ikeda Takahiro、Muramatsu Kazuhiro、Matsumoto Naomichi、Yamagata Takanori、Osaka Hitoshi
    • Journal Title

      Brain and Development

      Volume: 印刷中 Issue: 8 Pages: 726-730

    • DOI

      10.1016/j.braindev.2019.04.009

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17K16279
  • [Journal Article] Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex.?2019

    • Author(s)
      Noda M, Iwamoto I, Tabata H, Yamagata T, Ito H, Nagata K.
    • Journal Title

      Sci. Rep.

      Volume: 9 Issue: 1 Pages: 5874-5874

    • DOI

      10.1038/s41598-019-42390-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K16315, KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-19K07059, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-16K07037, KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-19H03629
  • [Journal Article] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation2018

    • Author(s)
      Kojima K、Shirai K、Kobayashi M、Miyauchi A、Saitsu H、Matsumoto N、Osaka H、Yamagata T
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 1 Pages: 69-73

    • DOI

      10.1016/j.braindev.2017.06.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
  • [Journal Article] The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.2018

    • Author(s)
      Matsumoto, A. Imagawa, E. Miyake, N. Ikeda, T. Kobayashi, M. Goto, M. Matsumoto, N. Yamagata, T. Osaka, H.
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 4 Pages: 325-9

    • DOI

      10.1016/j.braindev.2017.09.002

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K16279, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09995
  • [Journal Article] Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.2017

    • Author(s)
      Goto, M., Mizuno, M., Matsumoto, A., Yang, Z., Jimbo, E.F., Tabata, H., Yamagata, T., Nagata, K.-I.
    • Journal Title

      Sci Rep.

      Volume: 7 Issue: 1 Pages: 43945-43945

    • DOI

      10.1038/srep43945

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25430046, KAKENHI-PROJECT-15K06716, KAKENHI-PROJECT-16K07037, KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-15K15399, KAKENHI-PROJECT-16H05363
  • [Journal Article] Assessment of Autistic Traits in Children Aged 2 to 4.5 Years With the Preschool Version of the Social Responsiveness Scale (SRS-P): Findings from Japan.2017

    • Author(s)
      Stickley A, Tachibana Y, Hashimoto K, Haraguchi H, Miyake A, Morokuma S, Nitta H, Oda M, Ohya Y, Senju A, Takahashi H, Yamagata T, Kamio Y.
    • Journal Title

      Autism Res.

      Volume: 3 Issue: 5 Pages: 852-865

    • DOI

      10.1002/aur.1742

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-16H02058
  • [Journal Article] Association of Oxytocin and Parental Prefrontal Activation during Reunion with Infant: A Functional Near-Infrared Spectroscopy Study2017

    • Author(s)
      Ito Jun、Fujiwara Takeo、Monden Yukifumi、Yamagata Takanori、Ohira Hideki
    • Journal Title

      Frontiers in Pediatrics

      Volume: 5 Pages: 271-271

    • DOI

      10.3389/fped.2017.00271

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-15H03151
  • [Journal Article] Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome2017

    • Author(s)
      Nakamura Sachie、Osaka Hitoshi、Muramatsu Shin-ichi、Takino Naomi、Ito Mika、Aoki Shiho、Jimbo Eriko F.、Shimazaki Kuniko、Onaka Tatsushi、Ohtsuki Sumio、Terasaki Tetsuya、Yamagata Takanori
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 10 Pages: 67-74

    • DOI

      10.1016/j.ymgmr.2016.12.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Journal Article] Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C2017

    • Author(s)
      Kodachi T、Matsumoto Shizuko、Mizuguchi Masashi、Osaka Hitoshi、Kanai Nobuyuki、Nanba Eiji、Ohno Kousaku、Yamagata Takanori
    • Journal Title

      Neuropathology

      Volume: 37 Issue: 5 Pages: 426-430

    • DOI

      10.1111/neup.12380

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Journal Article] Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.2016

    • Author(s)
      Inaguma Y, Matsumoto A, Noda M, Tabata H, Maeda A, Goto M, Usui D, Jimbo EF, Kikkawa K, Ohtsuki M, Momoi MY, Osaka H, Yamagata T, Nagata KI
    • Journal Title

      J Neurochem

      Volume: 139 Issue: 2 Pages: 245-55

    • DOI

      10.1111/jnc.13832

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-15K15399, KAKENHI-PROJECT-16H05363
  • [Journal Article] Morphological characterization of mammalian Timeless in the mouse brain development.2015

    • Author(s)
      Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H, Nagata K.
    • Journal Title

      Neurosci Res

      Volume: 92 Pages: 21-28

    • DOI

      10.1016/j.neures.2014.10.017

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-23590124, KAKENHI-PUBLICLY-25123727, KAKENHI-PROJECT-25430046, KAKENHI-PUBLICLY-25122722, KAKENHI-PROJECT-25670488, KAKENHI-PROJECT-24390271
  • [Journal Article] Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.2015

    • Author(s)
      Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata K.
    • Journal Title

      J Neurochem

      Volume: 132 Issue: 1 Pages: 61-69

    • DOI

      10.1111/jnc.12943

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23590124, KAKENHI-PROJECT-24500386, KAKENHI-PUBLICLY-25123727, KAKENHI-PROJECT-25430046, KAKENHI-PROJECT-26893252, KAKENHI-PUBLICLY-25122722, KAKENHI-PROJECT-24590314, KAKENHI-PROJECT-24390271
  • [Journal Article] Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy2014

    • Author(s)
      Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY, Mizuguchi T
    • Journal Title

      Brain Dev

      Volume: 36 Issue: 6 Pages: 523-527

    • DOI

      10.1016/j.braindev.2013.07.002

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.2014

    • Author(s)
      Matsumoto A, Mizuno M, Hamada N, Nozaki Y, Jimbo E, Momoi M, Nagata K, Yamagata T
    • Journal Title

      PLOS ONE

      Volume: 9 Issue: 3 Pages: e92695-e92695

    • DOI

      10.1371/journal.pone.0092695

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-13J40147, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-24390271, KAKENHI-PROJECT-24500386, KAKENHI-PROJECT-25670488
  • [Journal Article] 自閉性障害の多様な遺伝学的病態とシナプス関連病因遺伝子の解析.2014

    • Author(s)
      山形崇倫、松本歩、永田浩一
    • Journal Title

      脳と発達

      Volume: 46 Pages: 125-130

    • NAID

      130005005694

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670488
  • [Journal Article] MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus2014

    • Author(s)
      Saito M, Yamagata T, Shiba Y, Nagashima M, Taniguchi S, Jimbo E, Momoi MY
    • Journal Title

      Brain Dev

      Volume: 36 Issue: 1 Pages: 64-69

    • DOI

      10.1016/j.braindev.2013.01.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
    • Journal Title

      Am J Med Genet A

      Volume: 161 Issue: 6 Pages: 1221-1237

    • DOI

      10.1002/ajmg.a.35933

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers2013

    • Author(s)
      Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY
    • Journal Title

      Brain Dev

      Volume: 35 Issue: 6 Pages: 582-585

    • DOI

      10.1016/j.braindev.2012.08.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] 自閉症2013

    • Author(s)
      山形 崇倫
    • Journal Title

      小児神経学の進歩

      Volume: 42集

    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities2013

    • Author(s)
      Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 11 Pages: 755-757

    • DOI

      10.1038/jhg.2013.88

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013

    • Author(s)
      Kato M, …Saitsu H.
    • Journal Title

      Epilepsia

      Volume: in press Issue: 7 Pages: 1282-7

    • DOI

      10.1111/epi.12200

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.2013

    • Author(s)
      Saito M, Yamagata T, Matsumoto A, Shiba Y, Nagashima M, Taniguchi S, Jimbo E, Momoi MY.
    • Journal Title

      Brain Dev

      Volume: 35

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Contiguous ABCD1 DXS1357E deletion syndrome : Report of an autopsy case2013

    • Author(s)
      Iwasa M, Yamagata T, Mizuguchi M, Itoh M, Matsumoto A, Hironaka M, Honda A, Momoi MY, Shimozawa N
    • Journal Title

      Neuropathology

      Volume: 33 Issue: 3 Pages: 292-298

    • DOI

      10.1111/j.1440-1789.2012.01348.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-24390261, KAKENHI-PROJECT-24659492
  • [Journal Article] Mutation in Parkinson disease-associated, G-protein coupled receptor 37 (GPR37/PaelR) is related to Autism spectrum disorder2012

    • Author(s)
      Fujita-Jimbo E, Yu ZL, Li H, Yamagata T, Mori M, Momoi T, Momoi MY
    • Journal Title

      PLoS One

      Volume: 7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Right prefrontal activation as a neuro-functional biomarker for monitoring acute effects of methylphenidate in ADHD children : an fNIRS study2012

    • Author(s)
      Monden Y, Dan I, Dan H, Nagashima M, Tsuzuki D, Kyutoku Y, Gunji Y, Yamagata T, Watanabe E, Momoi MY
    • Journal Title

      NeuroImage Clinical

      Volume: 1 Issue: 1 Pages: 131-40

    • DOI

      10.1016/j.nicl.2012.10.001

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23390354, KAKENHI-PROJECT-23650217, KAKENHI-PROJECT-23700885
  • [Journal Article] Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to Autism spectrum disorder.2012

    • Author(s)
      2. Fujita-Jimbo E, Yu ZL, Li H, Yamagata T, Mori M, Momoi T, Momoi MY
    • Journal Title

      PLoS One

      Volume: 7 Issue: 12 Pages: e51155-e51155

    • DOI

      10.1371/journal.pone.0051155

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

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

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
  • [Journal Article] Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination2012

    • Author(s)
      Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T
    • Journal Title

      J Hum Genet

      Volume: 57 Issue: 9 Pages: 593-600

    • DOI

      10.1038/jhg.2012.77

    • NAID

      10031057000

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Clinically-oriented monitoring of acute effects of methylphenidate on cerebral hemodynamics in ADHD children using fNIRS2012

    • Author(s)
      Monden Y, Dan H, Nagashima M, Dan I, Kyutoku Y, Okamoto M, Yamagata T, Momoi MY, Watanabe E
    • Journal Title

      Clin Neurophysiol

      Volume: 123 Issue: 6 Pages: 1147-1157

    • DOI

      10.1016/j.clinph.2011.10.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Clinically-oriented monitoring of acute effects of methylphenidate on cerebral hemodynamics in ADHD children using fNIRS2011

    • Author(s)
      Monden Y, Dan H, Nagashima M, Dan I, Kyutoku Y, Okamoto M, Yamagata T, Momoi MY, Watanabe E
    • Journal Title

      Clin Neurophysiol

      Volume: (Epub ahead of print)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism.2009

    • Author(s)
      Nakashima N, Yamagata T, Mori M, Kuwajima M, Suwa K, Momoi MY.
    • Journal Title

      Brain Dev. In press

    • NAID

      10027212757

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism.2009

    • Author(s)
      Nakashima N, Yamagata T, et al.
    • Journal Title

      Brain and Development (In press)

    • NAID

      10027212757

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism.2009

    • Author(s)
      Nakashima, N, Yamagata, T, Mori M, Kuwajima M, Suwa K, MOMOI MY.
    • Journal Title

      Brain & Development Feb3 (E-pub)

    • NAID

      10027212757

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism.2009

    • Author(s)
      Nakajima N, Yamagata T, MoriM, Kuwajima M, Suwa K, Momoi MY.
    • Journal Title

      Brain Dev doi:10

      Pages: 1016-1016

    • NAID

      10027212757

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.2008

    • Author(s)
      Zhiling Y, Yamagata T, et al.
    • Journal Title

      Biochem Biophys Res Commun 377

      Pages: 926-929

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Journal Article] Impaired hippocampal synaptic function in secretin deficient mice.2008

    • Author(s)
      Yamagata T, et al.
    • Journal Title

      Neuroscience 154

      Pages: 1417-1422

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.2008

    • Author(s)
      Zhiling Y, Fujita E, Tmomoi anabe Y, Yamagata T, k, Momoi T, Momoi MY.
    • Journal Title

      Biochem Biophys, Res Commun. 377

      Pages: 926-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.2008

    • Author(s)
      Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY.
    • Journal Title

      Biochem Biophys Res Commun 377

      Pages: 926-929

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.2008

    • Author(s)
      Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY.
    • Journal Title

      Biochem Biophys Res Commun. 377

      Pages: 926-929

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Journal Article] Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.2006

    • Author(s)
      Nishijima I, Yamagata T, Spencer CM, Wevber EJ, Alekseyenko O, Seat JD, Momoi MY, et al.
    • Journal Title

      Hum Mol Genet 15

      Pages: 3241-3250

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Evidence supporting WNT16 as autism susceptible gene.2006

    • Author(s)
      Imai M, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Am J Genet (In press)

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Secretin receptor deficient mice exh ibited impaired synaptic plasticity and social behavior2006

    • Author(s)
      Nishijima I, Yamagata T, Spencer Cm,Weeber EJ, Alekseyenko O, Sweatt JD, Momoi MY, et al.
    • Journal Title

      Hum mol Genet 15

      Pages: 3241-3250

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] A. Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.2006

    • Author(s)
      Nishijima I, Yamagata T, Soencer CM, Weber EJ, Alekseyenko O, Seat JD, Momoi MY, Ito M, Armstrong DL, Nelson DL, Oaylor R, Bradley A.
    • Journal Title

      Hum Mol Genet 15

      Pages: 3241-3250

    • Data Source
      KAKENHI-PROJECT-18390301
  • [Journal Article] Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.2006

    • Author(s)
      Nishijima I, Yamagata T, Spencer CM, Weber EJ, Alekseyenko 0, Seat JD, Momoi MY, Ito M, Armstrong DL, Nelson DL, Paylor R, Bradley A.
    • Journal Title

      Hum Mol Genet 15

      Pages: 3241-3241

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain & Dev 27

      Pages: 321-325

    • NAID

      10019356605

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain Dev 27

      Pages: 207-210

    • NAID

      10015453725

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570766
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      L Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development 27

      Pages: 207-210

    • NAID

      10015453725

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14570766
  • [Journal Article] RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.2005

    • Author(s)
      Nakamura M, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Brain Dev 27

      Pages: 114-117

    • NAID

      10015453219

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Absence of caisative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      Li H, Yamagta T, Mori M, Momoi MY.
    • Journal Title

      Brain & Dev 27

      Pages: 207-210

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Two new XPD patients compound heterozygotes for the same mutation demonstrate diverse clinical features.2005

    • Author(s)
      Fujimoto M, Leech SN, Theron T, Mori M, Fawcett H, Botta E, Nozaki Y, Yamagata T, Moriwaki S, StefaniniM, Momoi MY, Nakagawa H, Shuster S, Moss C, Lehmann AR.
    • Journal Title

      J Invest Dermatol 25:86-92-3250 (BBRC-06-6032)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Absence of causative mutation and presence of autism-related allele in FOXP in Japanese autistic population2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain & Dev 27

      Pages: 207-210

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] RSK2 gene mutation in Coffinn-Lowy syndrome with erop episodes.2005

    • Author(s)
      Nakamura M, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Brain & Dev 27

      Pages: 114-117

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Brain & Development 27

      Pages: 207-210

    • NAID

      10015453725

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY
    • Journal Title

      Brain and Development 27

      Pages: 321-325

    • NAID

      10019356605

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14570766
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes I autistic spectrum disorders.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Brain & Development (In press)

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY
    • Journal Title

      Brain Dev. 27

      Pages: 321-325

    • NAID

      10019356605

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570766
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in auistic patients.2005

    • Author(s)
      Li H, Yamagta T, Mori M, Yasuhara A, Momoi MY.
    • Journal Title

      Brain & Dev 27

      Pages: 321-325

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY.
    • Journal Title

      Brain Dev 27

      Pages: 321-325

    • NAID

      10019356605

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Non-invasive screening of fragile X syndrme A using urine and hair roots.2004

    • Author(s)
      Suwa K, Yamagata T, goto T, Saito S, Momoi MY.
    • Journal Title

      Brain & Dev 26

      Pages: 380-383

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] RSK gene mutations in Coffin-Lowry syndrome with drop episodes.2004

    • Author(s)
      Nakamura M, Yamagata T, Mori M, Momoi MY.
    • Journal Title

      Brain & Development 26

      Pages: 453-458

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Dichloroacetate treatment for mitochondrial vytopathy : ling-term egffets in MELAS.2004

    • Author(s)
      Mori M, Yamagata T, Saito S, Gotou, Momoi MY.
    • Journal Title

      Brain $ Development 26

      Pages: 453-458

    • Data Source
      KAKENHI-PROJECT-15390326
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development (In press)

    • NAID

      10019356605

    • Data Source
      KAKENHI-PROJECT-14570766
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development (In press)

    • NAID

      10015453725

    • Data Source
      KAKENHI-PROJECT-14570766
  • [Presentation] Gene therapy for Niemann-Pick disease type C1 (NPC1) using AAV.GTX-NPC12023

    • Author(s)
      Karin Kojima, Yoshie Kurokawa, Chika Watanabe, Takanori Yamagata
    • Organizer
      第29回日本遺伝子細胞治療学会学術集会 シンポジウムGenetic Diseases
    • Invited
    • Data Source
      KAKENHI-PROJECT-23K07301
  • [Presentation] Long-term efficacy of gene therapy for AADC deficiency, including patients with a moderate phenotype.2023

    • Author(s)
      Marina Mizobe, Karin Kojima, Tadahiro Mitani, Kazuhiro Muramatsu, Hitoshi Osaka, Naoyuki Taga, Masahiro Hirai, Yoshiyuki Onuki, Takeshi Nakajima, Shin-ichi Muramatsu, Takanori Yamagata.
    • Organizer
      American Society of Gene and Cell Therapy 26th Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K07301
  • [Presentation] Gene therapy for Niemann-Pick disease type C1 (NPC1) using AAV.GTX-NPC1.2023

    • Author(s)
      Karin Kojima, Yoshie Kurokawa, Chika Watanabe, Takanori Yamagata.
    • Organizer
      第29回日本遺伝子細胞治療学会学術集会 シンポジウムGenetic Diseases
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] Niemann-Pick病C型等の先天代謝異常症に対するAAVベクターを用いた遺伝子治療開発2023

    • Author(s)
      山形 崇倫
    • Organizer
      第64回日本先天代謝異常学会学術集会第64回日本先天代謝異常学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-23K07301
  • [Presentation] 遺伝子治療開発における臨床試験の実際2021

    • Author(s)
      山形 崇倫
    • Organizer
      第63回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] Gene therapy of genetic neurological disorders2021

    • Author(s)
      Osaka H,Nakamura S,Kurokawa Y,Kojima K, Miyauchi A,Muramatsu K,Jimbo E,Nakajima T,Mizukami H,Muramatsu SI,Yamagata T
    • Organizer
      第27回日本遺伝子細胞治療学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] 小児難治性神経疾患に対する遺伝子治療2021

    • Author(s)
      山形 崇倫
    • Organizer
      第124回日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] First report of FER1L6 as the gene responsible for hypotonia and intellectual disability2019

    • Author(s)
      Matsumoto A, Nagao Y, Saitsu H, Osaka H, Iwamoto S, Yamagata T
    • Organizer
      日本人類遺伝学会 第64回大会
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] Circadian-relevant gene PERIOD3 is related to autism spectrum disorder and has function neuronal development2019

    • Author(s)
      Miyauchi A, Noda M, Matsumoto A, Goto M, Kojima K, Osaka H, Jimbo E, Nagata K, Yamagata T
    • Organizer
      The American Society of Human Genetics 2019 Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08258
  • [Presentation] 急速に歩行障害が進行したCLN6変異を有する神経セロイドリポフスチン症の5歳男児例2018

    • Author(s)
      松本歩、小坂仁、長嶋 雅子、岩間 一浩、水口 剛、池田 尚広、村松 一洋、松本 直通、山形崇倫
    • Organizer
      第60回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Presentation] 自閉スペクトラム症児に対するアレイCGH解析によるMicroRNAの検討2018

    • Author(s)
      後藤昌英、松本歩、神保恵理子、小坂仁、大橋圭、齋藤伸治、山形崇倫
    • Organizer
      第60回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Presentation] 自閉症スペクトラム障害児に対するアレイCGH解析での検討2017

    • Author(s)
      後藤昌英、松本歩、神保恵理子、小坂仁、大橋圭、齋藤伸治、山形崇倫
    • Organizer
      第59回日本小児神経学会総会
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Presentation] Role of a circadian-relevant gene, NR1D1, in brain development: possible involvement in the pathophysiology of autism spectrum disorder2017

    • Author(s)
      Masahide Gotoa, Makoto Mizunob, Ayumi Matsumotoa, Zhiliang Yanga , Eriko F Jimboa, Hidenori Tabata, Hitoshi Osaka, Koh-ichi Nagata, Takanori Yamagata
    • Organizer
      2017 International Meeting for Autism Research
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Presentation] PIK3C3 is responsible gene for epidermal nevus, cataract and learning disorder.2016

    • Author(s)
      Matsumoto A, Inaguma Y, Usui D, Goto M, Jimbo EF, Tabata H, Maeda A, Kikkawa K, Momoi MY, Osaka H, Nagata KI. Yamagata T
    • Organizer
      American Society of Human Genetics 2016 Annual meeting
    • Place of Presentation
      Vancouver
    • Year and Date
      2016-10-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09995
  • [Presentation] 自閉性障害患者における時計関連遺伝子の変異解析2014

    • Author(s)
      松本歩, 楊志亮, 小島華林, 中山一大, 神保恵理子, 岩本禎彦, 永田浩一, 山形崇倫
    • Organizer
      第56回日本小児神経学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 自閉性障害原因遺伝子 CADM1 に結合する足場タンパク MUPP1 の遺伝子変異解析2014

    • Author(s)
      楊志亮, 小島華林, 神保恵理子, 山形崇倫, 桃井隆, 桃井真里子
    • Organizer
      第56回日本小児神経学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 自閉性障害原因遺伝子変異と小胞体ストレスの関与2014

    • Author(s)
      小島華林, 神保恵理子, 松本歩, 山形崇倫, 桃井隆, 桃井真里子
    • Organizer
      第56回日本小児神経学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 自閉症スペクトラム障害の評価 : 統一した評価法の必要性2014

    • Author(s)
      山形崇倫, 小島華林, 門田行史
    • Organizer
      第56回日本小児神経学会シンポジウム
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 発達障害患者CNV領域におけるシナプス関連分子の解析.2013

    • Author(s)
      松本歩、山形崇倫、野崎靖之、神保恵理子、永田浩一、桃井真里子
    • Organizer
      第55回日本小児神経学会
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Contribution of Scaffold proteins to developmental disorder2013

    • Author(s)
      Matsumoto A, Mizuno M, Hamada N, Jimbo EF, Kojima K, Momoi MY, Nagata K, Yamagata T
    • Organizer
      The 63rd Annual Meeting for the American Society of Human Genetics
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] A NDUFA1 mutation in a boy with mitochondrial complexIdeficiency.2013

    • Author(s)
      Miyauchi A, Monden Y, Mori M, Sugie H, Osaka H, Murayama K, Ohtake A, Yamagata T
    • Organizer
      The 55th Annual Meeting of The Japanese Society for Inherited Metabolic Diseases(JSIMD)
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Mutations in Secretin receptor may be related to autism spectrum disorder2013

    • Author(s)
      Kojima K, Yamagata T, Matsumoto A, Jimbo EF, Momoi MY
    • Organizer
      The 63rd Annual Meeting for the American Society of Human Genetics
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 自閉性障害の多様な遺伝学的病態とシナプス関連病因遺伝子の解析2013

    • Author(s)
      山形崇倫 、松本歩、永田浩一
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      いいちこホール(大分県、大分市)
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670488
  • [Presentation] 発達障害患者 CNV 領域におけるシナプス関連分子の解析2013

    • Author(s)
      山形崇倫, 松本歩, 永田浩一
    • Organizer
      第55回日本小児神経学会シンポジウム
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Mutations in Secretin receptor may be related to autism spectrum disorder.2013

    • Author(s)
      Kojima K, Yamagata T, Matsumoto A, Jimbo EF, Momoi MY
    • Organizer
      The 63rd Annual Meeting for the American Society of Human Genetics.
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Contribution of Scaffold proteins to developmental disorder.2013

    • Author(s)
      Matsumoto A, Mizuno M, Hamada N, Jimbo EF, Kojima K, Momoi MY, Nagata K, Yamagata T.
    • Organizer
      The 63rd Annual Meeting for the American Society of Human Genetics.
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 発達障害患者CNV領域におけるシナプス関連分子の解析.2013

    • Author(s)
      山形崇倫、松本歩、永田浩一
    • Organizer
      第55回日本小児神経学会シンポジウム
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 発達障害患者 CNV領域におけるシナプス関連分子の解析2013

    • Author(s)
      松本歩, 山形崇倫, 野崎靖之, 神保恵理子, 永田浩一, 桃井真里子
    • Organizer
      第55回日本小児神経学会
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Cadm1 変異を持つ自閉性障害患者のリンパ芽球を用いた小胞体ストレス感受性についての検討2012

    • Author(s)
      小島華林, 松本歩, 楊志亮, 神保恵理子, 山形崇倫, 桃井真里子
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Interstitial Deletion 12(q21.2-q21.33) in a Boy with Facial Dysmorphism and Mental Retardation2012

    • Author(s)
      Matsumoto A, Yamagata T, Nozaki Y, Jimbo EF, Momoi MY
    • Organizer
      The 62rd Annual Meeting for the American Society of Human Genetics
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Cadm1遺伝子変異をもつ自閉性障害患者のリンパ芽球を用いた小胞体ストレス感受性についての検討2012

    • Author(s)
      小島華林、松本歩、楊志亮、神保恵理子、山形崇倫、桃井眞里子
    • Organizer
      日本人類遺伝学会 第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] RPS6KA3 の重複を認めた軽度知的障害男児例2012

    • Author(s)
      松本歩, 山形崇倫, 桑島真理, 神保恵理子, 桃井真里子
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] RPS6KA3の重複を認めた軽度知的障害男児例2012

    • Author(s)
      松本歩、山形崇倫、桑島真理、神保恵理子、桃井真里子
    • Organizer
      日本人類遺伝学会 第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Mutation in Secretin receptor gene in Autism spectrum disorder and genes regulated by secretin in the brain2012

    • Author(s)
      Kojima K, Yamagata T, Matsumoto A, Saito M, Jimbo EF, Momoi MY
    • Organizer
      The 62rd Annual Meeting for the American Society of Human Genetics
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Mutation in the gene encoding Secretin Recepor is associated with autism spectrum disorder2012

    • Author(s)
      Kojima K, Yamagata T, Matsumoto A, Jimbo E, Momoi MY
    • Organizer
      The 62th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Interstitial Deletion 12(q21.2-q21.33) in a Boy with Facial Dysmorphism and Menta Retardation2012

    • Author(s)
      Matsumoto A, Yamagata T, Nozaki Y, Jimbo E, Momoi MY
    • Organizer
      The 62th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Deletion of MAOA and MAOB in male siblings with severe mental retardation and autistic phenotype2011

    • Author(s)
      Saito M, Yamagata T, Shiba Y, Nakashima N, Nagashima M, Jimbo E, Momoi MY
    • Organizer
      The 61st Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-11-13
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Deletion of MAOA and MAOB in male siblings with severe mental retardation and autistic phenotype2011

    • Author(s)
      Saito M, Yamagata T, Shiba Y, Nakashima N, Nagashima M, Jimbo E, Momoi MY
    • Organizer
      The 62rd Annual Meeting for the American Society of Human Genetics
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] 自閉性障害患者に見いだされた変異蛋白による小胞体ストレスと分子病態との関係2011

    • Author(s)
      神保恵理子、山形崇倫、桃井真里子
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2011-05-27
    • Data Source
      KAKENHI-PROJECT-23390275
  • [Presentation] Syntrophin-γ2 that interacts with neuroligins is not related with autism.2008

    • Author(s)
      Saito M, Yamagata T, et al.
    • Organizer
      58^<th> Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Philadelphia
    • Year and Date
      2008-11-12
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] Syntrophin-γ2 that interacts with neuroligins is not related with autism.2008

    • Author(s)
      Saito M, Yamagata T, et al
    • Place of Presentation
      Philaderphia
    • Year and Date
      2008-11-12
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] Genes relating synaps in 7q31 as Candidate genes for Autism.2008

    • Author(s)
      Nakashima N, Yamagata T, et al.
    • Organizer
      58^<th> Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Philadelphia
    • Year and Date
      2008-11-14
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] Genes relating synaps in 7q31 as Candidate genes for Autism.2008

    • Author(s)
      Nakashima N, Yamagata T, et al
    • Organizer
      The 58th Annual Meeting for the American Society of Human Genetics.
    • Place of Presentation
      Philaderphia
    • Year and Date
      2008-11-14
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] G-protein coupled receptor genes as genetic risk factor for autism.2007

    • Author(s)
      Zhiling Y, Yamagata T, et al
    • Organizer
      第49回日本小児神経学会総会
    • Place of Presentation
      大阪
    • Year and Date
      2007-07-06
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] Genes regulated by MECP2 as candidate genes for autism2007

    • Author(s)
      N.Nakashima,T.Yamagata,Z.Yu,K.Suwa,M.Mori,andM.Y.Momoi.
    • Organizer
      Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      San Diego
    • Year and Date
      2007-10-25
    • Data Source
      KAKENHI-PROJECT-18591165
  • [Presentation] Imprinted genes relating with MECP2 in 7q21 are not major causative genes for autism.2006

    • Author(s)
      Nakashima N, Yamagata T, et al
    • Organizer
      The 56th Annual Meeting for the American Society of Human Genetics.
    • Place of Presentation
      New Orleans
    • Year and Date
      2006-10-10
    • Data Source
      KAKENHI-PROJECT-18591165
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