Yamagata Takanori 山形崇倫

… Alternative Names

YAMAGATA Takanori 山形崇倫

YAMAGTA Takanori 山形崇倫

Less

Researcher Number	00239857
Other IDs
Affiliation (Current)	2023: 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 – 2021: 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 / 概日リズム関連遺伝子 / 自閉スペクトラム症 / FOXP2 / MBD1 / secretin receptor / secretin … More / 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 / 脳機能解析 / 被殻 / ドパミン / AAVベクター / AADC欠損症 / オキシトシン / 治療 / miRNA / MECP2重複症候群 / 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

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
  
  山形崇倫
- Project Period (FY)
  2019 – 2022
- 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

[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-19K08258, KAKENHI-PROJECT-21K18554, KAKENHI-PROJECT-19K17016, KAKENHI-PROJECT-21KK0041
[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: - Issue: 7 Pages: 486-491
- DOI
  10.1016/j.braindev.2022.03.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08258
[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
[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
[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] 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

1. MOMOI Mariko (90166348)

# of Collaborated Projects: 7 results

# of Collaborated Products: 22 results
2. MORI Masato (10337347)

# of Collaborated Projects: 5 results

# of Collaborated Products: 28 results
3. SAITO Sugiko (00260836)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
4. NAGATA Kouichi (50252143)

# of Collaborated Projects: 4 results

# of Collaborated Products: 12 results
5. NOZAKI Yasuyuki (90281295)

# of Collaborated Projects: 4 results

# of Collaborated Products: 4 results
6. OGURO Noriko (10214107)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
7. SUWA Kiyotaka (30285796)

# of Collaborated Projects: 4 results

# of Collaborated Products: 1 results
8. KOBAYASHI Yoko (20245046)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
9. ICHIHASI Kou (70213006)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
10. NAKASHIMA Naomi (20337330)

# of Collaborated Projects: 3 results

# of Collaborated Products: 9 results
11. KUWAJIMA Mari (30398515)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
12. GOTO Tamako (40364509)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. MONDEN Yukifumi (80382951)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
14. NAGASHIMA Masako (70438662)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
15. JINBO Eriko (20291651)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. NAKAMURA Miki (20296114)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 五十嵐浩 (80260834)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. 原明 (10242728)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. 津留智彦 (90296111)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. Matsumoto Ayumi

# of Collaborated Projects: 1 results

# of Collaborated Products: 10 results
21. Goto Masahide

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
22. Kojima Karin

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
23. Jimbo Eriko

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
24. FUJITA Eriko

# of Collaborated Projects: 0 results

# of Collaborated Products: 25 results
25. NODA Mariko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 平井真洋

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 大貫良幸

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 田畑秀典

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 諸隈誠一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 下澤伸行

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 伊東秀記

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
32. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 才津浩智

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. 福嶋義光

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yamagata Takanori 山形 崇倫

YAMAGATA Takanori 山形 崇倫

YAMAGTA Takanori 山形 崇倫

Research Projects

Research Products

Co-Researchers

Analysis for dopaminergic system on gene therapy for AADC deficiencyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Development of treatment for autism spectrum disorder relating with oxytocin and miRNAPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Genetic analysis for autism spectrum disorder and intellectual disability focusing on synaptic network abnormalityPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Analysis for the pathogenesis and the target molecules of treatment for autism focusing on G-protein coupled receptors and synaptic moleculesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

candidate gene analysis for autism focusing on the epigenetic mechanismPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Identification for the genes of autism by the analysis of neuronal peptides and linkage analysis.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Analysis of G-protein coupled receptors as candidate genes for autismPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Rett症候群の遺伝子解析Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Yamagata Takanori 山形崇倫

YAMAGATA Takanori 山形崇倫

YAMAGTA Takanori 山形崇倫