INOUE KEN 井上健

… Alternative Names

INOUE Ken 井上健

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Researcher Number	30392418
Other IDs
Affiliation (Current)	2025: 国立研究開発法人国立精神・神経医療研究センター, メディカルゲノムセンター, 室長
Affiliation (based on the past Project Information) *help	2016 – 2023: 国立研究開発法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 2017: 国立精神, 神経センター・神経研・疾病二部, 室長 2015: 国立研究開発法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 2015: 国立研究開発法人国立精神・神経医療研究センター, 神経研究所・疾病研究第二部, 室長 2015: 国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 … More 2011 – 2014: 独立行政法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 2013: 独立行政法人国立精神・神経医療研究センター, 疾病研究第二部, 室長 2012 – 2013: 独立行政法人国立精神・神経医療研究センター, 疾病研究第二部, 室長 2012: 独立行政法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 2009 – 2011: 独立行政法人国立精神・神経医療研究センター, 神経研究所・疾病研究第二部, 室長 2009: 国立精神・神経センター, 神経研究所・疾病研究第二部, 室長 2008: National Center of Neurology and Psychiatry, 神経研究所疾病研究第二部, 室長 2007: 国立精神・神経センター・神経研究所, 疾病研究第二部, 室長 2006 – 2007: 国立精神・神経センター, 神経研究所・疾病研究第二部, 室長 2006: 国立精神・神経センター, 神経研究所疾病研究第二部, 室長 2005: 国立精神・神経センター, 疾病研究第二部, 室長 Less
Review Section/Research Field	Principal Investigator Pediatrics / Medium-sized Section 52:General internal medicine and related fields / Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Embryonic/Neonatal medicine Except Principal Investigator Embryonic/Neonatal medicine / Psychiatric science / Pediatrics / Neurology / Basic veterinary science/Basic zootechnical science
Keywords	Principal Investigator 脳神経疾患 / 遺伝子治療 / 人工miRNA / Alu / ペリツェウス・メルツバッハ病 / 小児神経学 / 神経科学 / トランスレーショナルリサーチ / マイクロバブル超音波併用法 / アデノ随伴ウィルス … More / 先天性大脳白質形成不全症 / アストロサイト / オリゴデンドロサイト / 直接細胞変換 / AAV遺伝子治療 / 遺伝性ニューロパチー / シュワン細胞 / 人工マイクロRNA / AAV / 遺伝子治療法 / 遺伝子発現抑制 / アデノ随伴ウィルス(AAV) / PMP22 / Charcot-Marie-Tooth病1A型 / ゲノム重複変異 / 輸送障害 / 小胞体ストレス / 分泌経路 / 小胞体 / ペリツェウス・メルツバッハー病 / 細胞病態 / alternative splicing / evolution / RNA intereference / genome / Nonsence-mediate decay / 選択的スプライシング / 進化 / RNA干渉 / ゲノム / ナンセンス変異依存分解機構 / 発現制御 / トランスレーショナルリサーチレーショナルリサーチ / 治療法開発 / 発現抑制 / アンチセンス / 国際情報交流 / ペリツェウス・メルツバッハ病 / アレイCGH / ゲノム病 / 神経遺伝学 / 発生・分化 / 遺伝学 / BACトランスジェニックマウス / 分子遺伝学 / 移植・再生医療 / 脳・神経 / 医療・福祉 / 高次脳機能障害 / 脳性麻痺 / 虚血性脳傷害 / 神経前駆細胞 / 超早産児 / 脳室周囲白質軟化症 … More Except Principal Investigator 小胞体ストレス / マウスモデル / 治療法開発 / 発達障害 / 虚血性脳障害 / モデルマウス / 認知機能障害 / 超早産児 / シャペロン / 神経変性 / 神経変性疾患 / 脳神経疾患 / 神経幹細胞 / DREDDシステム / 作業記憶 / 層構造 / 大脳皮質 / 認知機能 / 神経細胞移動 / 脳障害 / 虚血 / GABA神経系 / 不安 / 行動解析 / 微細組織構築 / 神経細胞 / 脳虚血 / 後遺症 / フォールディング / 白質形成不全 / 希少難病 / 遺伝性神経疾患 / 蛋白構造 / 薬物スクリーニング / 蛋白構造不全 / 遺伝性疾患 / Chaperon / Neurodegeneration / Biological neurochemistry / 神経病態生化学 / リン酸化 / SOD1 / ALS / 酸化 / autophagy / 食品成分 / ミスフォールド蛋白質 / オートファジー / 病理学 / 脳・神経 / 動物モデル / 神経科学 / 高次脳機能障害 / 未熟児医学 Less

Innovative AAV gene therapy by combining cell conversion and artificial miRNAPrincipal Investigator
- Principal Investigator
  
  井上健
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  National Center of Neurology and Psychiatry
A new AAV delivery method for gene therapy of hypomyelinaitng leukodystrophyPrincipal Investigator
- Principal Investigator
  
  井上健
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center of Neurology and Psychiatry
Gene therapy for CMT1A using AAV harboring artificial microRNAsPrincipal Investigator
- Principal Investigator
  
  Inoue Ken
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  National Center of Neurology and Psychiatry
Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher diseasePrincipal Investigator
- Principal Investigator
  
  INOUE KEN
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Drug screening for childhood genetic disease by visualizing proteins.
- Principal Investigator
  
  Osaka Hitoshi
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Jichi Medical University
Investigation of the mechanism of ischemic brain injury in extremely preterm infants
- Principal Investigator
  
  Deguchi Kimiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Keio University
Treatment of congenital hypomyelinating leukodystrophy using the gene suppression effect of morpholinoPrincipal Investigator
- Principal Investigator
  
  Inoue Ken
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Identification of anxiety induced gene and therapeutic approach
- Principal Investigator
  
  Inagaki Masumi
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Psychiatric science
- Research Institution
  National Center of Neurology and Psychiatry
Establishment and analysis of a new mouse model of ischemic brain injuries in extremely preterm infants
- Principal Investigator
  
  Deguchi Kimiko
- Project Period (FY)
  2012 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Keio University
Clinical application of autophagy-inducing factors from food supplements
- Principal Investigator
  
  MORIMURA Toshifumi
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Basic veterinary science/Basic zootechnical science
- Research Institution
  Shiga University of Medical Science
  National Center of Neurology and Psychiatry
Study on molecular mechanism underlying genomic susceptibility to congenital hypomyelinating leukodystrophyPrincipal Investigator
- Principal Investigator
  
  INOUE Ken
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Molecular basis for the complex neurocristopathy PCWH and mechanisms underlying SOX10 allelic affinityPrincipal Investigator
- Principal Investigator
  
  INOUE Ken
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Center of Neurology and Psychiatry
Pathological study of higher brain dysfunction as a neurological outcome in extremely preterm infants
- Principal Investigator
  
  DEGUCHI Kimiko
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  National Center of Neurology and Psychiatry
周産期脳虚血性障害の治療法開発を目指した基礎研究:リーリン回路の神経成長促進作用Principal Investigator
- Principal Investigator
  
  井上健
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  National Center of Neurology and Psychiatry
Therapy for neurodegeneerative disease using novel screening method for chemical chaperon.
- Principal Investigator
  
  OSAKA Hitoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kanagawa Cancer Center Research Institute
超未熟児に伴う脳障害の病態研究-神経幹細胞障害モデルと幹細胞移植治療への展望Principal Investigator
- Principal Investigator
  
  井上健
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Does NMD prevent the disruption of genes from genomis integration of Alu elements?Principal Investigator
- Principal Investigator
  
  INOUE Ken
- Project Period (FY)
  2005 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Center of Neurology and Psychiatry

[Book] 先天性大脳白質形成不全症　「先天代謝異常症（下）―病因・病態研究，診断・治療の進歩―」2012
- Author(s)
  井上　健　他
- Publisher
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-23659531
[Book] 先天性大脳白質形成不全症、新領域別症候群シリーズNo.20「先天代謝異常症候群(下)―病因・病態研究,診断・治療の進歩―」2012
- Author(s)
  井上健、小坂仁
- Publisher
  日本臨牀社,編集遠藤文夫
- Data Source
  KAKENHI-PROJECT-23659531
[Book] Bacterial Artificial Chromosome-Based Experimental Strategies in the Field of Developmental Neuroscience. In : Bacterial Artificial Chromosomes Edited by P Chatterjee2011
- Author(s)
  Y Terakawa, YU. Inoue, J Asami, T Inoue
- Publisher
  InTech
- Data Source
  KAKENHI-PROJECT-21390103
[Book] 章名:Mendelian, Nonmendelian, multigenetic inheritance and complex traits.編者:Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestier EJ.書名:The Molecular and Genetic Basis of Neurological and Psychiatric Disease.4th edition2007
- Author(s)
  Shiga K, Inoue K, Lupski JR
- Publisher
  Lippincott Williams&Wilkins.Philadelphia,PA
- Data Source
  KAKENHI-PROJECT-17390102
[Book] Genomic Disorder: The Genomic Basis of Disease Stankiewicz P, Lupski JR, eds2006
- Author(s)
  Inoue K
- Publisher
  Humana Press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Book] Pelizaeus-Merzbacher disease and spastic paraplegia type 2 In Genomic Disorder : The Genomic Basis of Disease (Edited by Lupksi and Stankievicz)2006
- Author(s)
  Inoue K
- Publisher
  Humana Press
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease2024
- Author(s)
  Yamamoto Akiyo、Shimizu-Motohashi Yuko、Ishiyama Akihiko、Kurosawa Kenji、Sasaki Masayuki、Sato Noriko、Osaka Hitoshi、Takanashi Jun-ichi、Inoue Ken
- Journal Title
  
  Pediatric Neurology
  
  Volume: 151 Pages: 80-83
- DOI
  10.1016/j.pediatrneurol.2023.11.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-21H02886
[Journal Article] Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation2024
- Author(s)
  Shirakawa Yuka, Li Heng, Inoue Yuki, Izumi Hitomi, Kaga Yoshimi, Goto Yu-ichi, Inoue Ken, Inagaki Masumi
- Journal Title
  
  IBRO Neuroscience Reports
  
  Volume: 16 Pages: 67-77
- DOI
  10.1016/j.ibneur.2023.12.005
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K13967, KAKENHI-PROJECT-22K07900, KAKENHI-PROJECT-21H02886
[Journal Article] A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy2023
- Author(s)
  Kuroda Yukiko、Matsufuji Mayumi、Enomoto Yumi、Osaka Hitoshi、Takanashi Jun‐Ichi、Yamamoto Toshiyuki、Numata‐Uematsu Yurika、Tabata Kenshiro、Kurosawa Kenji、Inoue Ken
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 191 Issue: 8 Pages: 2245-2248
- DOI
  10.1002/ajmg.a.63229
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21H02886
[Journal Article] Diagnostic MR imaging features of hypomyelination of early myelinating structures: A case report2023
- Author(s)
  Abe Tokiko、Yamashita Koji、Kikuchi Kazufumi、Hatai Eriko、Fujii Fumihiko、Chong Pin Fee、Sakai Yasunari、Saitsu Hirotomo、Inoue Ken、Togao Osamu、Ishigami Kousei
- Journal Title
  
  The Neuroradiology Journal
  
  Volume: - Issue: 6 Pages: 758-760
- DOI
  10.1177/19714009231224419
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21H02886
[Journal Article] Whole genome sequencing of 45 Japanese patients with intellectual disability.2021
- Author(s)
  Chihiro Abe-Hatano, Aritoshi Iida, Shunichi Kosugi, Yukihide Momozawa, Chikashi Terao, Keiko Ishikawa, Mariko Okubo, Yasuo Hachiya, Hiroya Nishida, Kazuyuki Nakamura, Rie Miyata, Chie Murakami, Kan Takahashi, Kyoko Hoshino, Haruko Sakamoto, Sayaka Ohta, Masaya Kubota, Eri Takeshita, Akihiko Ishiyama et al.
- Journal Title
  
  American Journal of Medical Genetics - Part A
  
  Volume: 185 Issue: 5 Pages: 1468-1480
- DOI
  10.1002/ajmg.a.62138
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K07264, KAKENHI-PROJECT-21K06130, KAKENHI-PROJECT-21H02886
[Journal Article] Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet2021
- Author(s)
  Numata-Uematsu Yurika、Uematsu Mitsugu、Yamamoto Toshiyuki、Saitsu Hirotomo、Katata Yu、Oikawa Yoshitsugu、Saijyo Naoya、Inui Takehiko、Murayama Kei、Ohtake Akira、Osaka Hitoshi、Takanashi Jun-ichi、Kure Shigeo、Inoue Ken
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 29 Pages: 100800-100800
- DOI
  10.1016/j.ymgmr.2021.100800
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21H02886, KAKENHI-PROJECT-20H03648
[Journal Article] ペリツェウス・メルツバッハ病の分子病態に基づく新たな治療法開発の現状2021
- Author(s)
  井上　健
- Journal Title
  
  遺伝子医学
  
  Volume: 11 Pages: 94-99
- NAID
  40022655529
- Data Source
  KAKENHI-PROJECT-21H02886
[Journal Article] POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy2020
- Author(s)
  Kashiki Hitoshi、Li Heng、Miyamoto Sachiko、Ueno Hiroe、Tsurusaki Yoshinori、Ikeda Chizuru、Kurata Hirofumi、Okada Takumi、Shimazu Tomoyuki、Imamura Hoseki、Enomoto Yumi、Takanashi Jun-ichi、Kurosawa Kenji、Saitsu Hirotomo、Inoue Ken
- Journal Title
  
  Neurology Genetics
  
  Volume: 6 Issue: 6 Pages: 1-7
- DOI
  10.1212/nxg.0000000000000524
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-19K08358, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K22606
[Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing2019
- Author(s)
  Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: - Issue: 6 Pages: 396-407
- DOI
  10.1136/jmedgenet-2018-105775
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18K15692, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP12019
- Author(s)
  Takeshi Kouga, Shiro Koizume, Shiho Aoki, Eriko Jimbo, Takanori Yamagata, Ken Inoue, Hitoshi Osaka
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15H04878
[Journal Article] Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA2019
- Author(s)
  Li Heng、Okada Hironori、Suzuki Sadafumi、Sakai Kazuhisa、Izumi Hitomi、Matsushima Yukiko、Ichinohe Noritaka、Goto Yu-ichi、Okada Takashi、Inoue Ken
- Journal Title
  
  JCI Insight
  
  Volume: 4 Issue: 10 Pages: 125052-125052
- DOI
  10.1172/jci.insight.125052
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-16K19679, KAKENHI-PROJECT-19K08358, KAKENHI-PROJECT-17H00892, KAKENHI-PROJECT-19K22606
[Journal Article] A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.2019
- Author(s)
  Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Kurosawa K, Inoue K, Goto YI
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 1-4
- DOI
  10.1038/s41439-018-0032-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K07264, KAKENHI-PROJECT-16H05361
[Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP12019
- Author(s)
  Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 未定 Issue: 7 Pages: 665-671
- DOI
  10.1038/s10038-019-0600-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride2019
- Author(s)
  Takizawa Hotake、Hara Yuko、Mizobe Yoshitaka、Ohno Taisuke、Suzuki Sadafumi、Inoue Ken、Takeshita Eri、Shimizu-Motohashi Yuko、Ishiyama Akihiko、Hoshino Mikio、Komaki Hirofumi、Takeda Shin’ichi、Aoki Yoshitsugu
- Journal Title
  
  Scientific Reports
  
  Volume: 9 Issue: 1 Pages: 3807-3807
- DOI
  10.1038/s41598-019-40421-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-16H06528, KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-18H02538, KAKENHI-PROJECT-15H04268, KAKENHI-PROJECT-18K07544
[Journal Article] A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.2018
- Author(s)
  Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Oto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K.
- Journal Title
  
  Am J Med Genet Part A.
  
  Volume: 176 Issue: 5 Pages: 1195-1199
- DOI
  10.1002/ajmg.a.38657
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05361
[Journal Article] Association of impaired neuronal migration with cognitive deficits in extremely preterm infants.2017
- Author(s)
  Kubo, K.I., Deguchi, K., Nagai, T,, Ito, Y., Yoshida, K., Endo, T., Benner, S., Shan, W., Kitazawa, A., Aramaki, M., Ishii, K., Shin, M., Matsunaga, Y., Hayashi, K., Kakeyama, M., Tohyama, C., Tanaka, K.F., Tanaka, K., Takashima, S., Nakayama, M.
- Journal Title
  
  JCI Insight.
  
  Volume: 2 Issue: 10 Pages: 88609-88609
- DOI
  10.1172/jci.insight.88609
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19483, KAKENHI-PUBLICLY-16H01621, KAKENHI-PUBLICLY-17H06062, KAKENHI-PLANNED-25117005, KAKENHI-PROJECT-15H03123, KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-17H02220, KAKENHI-PROJECT-15J08536, KAKENHI-PROJECT-15K09723, KAKENHI-PROJECT-15K18363
[Journal Article] Association of impaired neuronal migration with cognitive deficits in extremely preterm infants2017
- Author(s)
  K. Kubo, K. Deguchi, T. Nagai, Y. Ito, K. Yoshida, T. Endo, S. Benner, W.Shan, A.o Kitazawa, M. Aramaki, K. Ishii, M. Shin, Y. Matsunaga, K. Hayashi, M. Kakeyama, C. Tohyama, K. F. Tanaka, K. Tanaka, S. Takashima, M. Nakayama, M. Itoh, Y. Hirata, B. Antalffy, D. D. Armstrong, K.Yamada, K. Inoue, and K. Nakajima
- Journal Title
  
  JCI Insight
  
  Volume: 印刷中
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09723
[Journal Article] Reelin transiently promotes N-cadherin-dependent neuronal adhesion during mouse cortical development2017
- Author(s)
  Yuki Matsunaga, Mariko Noda, Hideki Murakawa, Kanehiro Hayashi, Arata Nagasaka, Seika Inoue, Takaki Miyata, Takashi Miura, Ken-ichiro Kubo, and Kazunori Nakajima
- Journal Title
  
  Proc. Natl. Acad. Sci. U.S.A.
  
  Volume: 114 Issue: 8 Pages: 2048-2053
- DOI
  10.1073/pnas.1615215114
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PUBLICLY-15H01293, KAKENHI-PLANNED-16H06482, KAKENHI-PROJECT-15H02355, KAKENHI-PROJECT-15H03635, KAKENHI-PROJECT-16J05704, KAKENHI-PROJECT-26287025, KAKENHI-PROJECT-26400205, KAKENHI-PROJECT-15K06745, KAKENHI-PROJECT-15K09723, KAKENHI-PROJECT-26430075, KAKENHI-PROJECT-17K16315, KAKENHI-PROJECT-16H02457
[Journal Article] Cellular pathology of Pelizaeus-Merzbacher disease involving chaperones associated with endoplasmic reticulum stress.2017
- Author(s)
  Inoue K.
- Journal Title
  
  Front. Mol. Biosci.
  
  Volume: 4 Pages: 7-7
- DOI
  10.3389/fmolb.2017.00007
- Open Access
- Data Source
  KAKENHI-PROJECT-16H05361
[Journal Article] A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.2016
- Author(s)
  Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.
- Journal Title
  
  Brain & Development
  
  Volume: 38 Issue: 6 Pages: 581-584
- DOI
  10.1016/j.braindev.2015.12.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26430135, KAKENHI-PROJECT-25670485, KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-16H05361
[Journal Article] Novel <i>SLC16A2</i> mutations in patients with Allan-Herndon-Dudley syndrome2016
- Author(s)
  Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.
- Journal Title
  
  Intractable & Rare Diseases Research
  
  Volume: 5 Issue: 3 Pages: 214-217
- DOI
  10.5582/irdr.2016.01051
- NAID
  130005410394
- ISSN
  2186-361X, 2186-3644
- Language
  English
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-16H05361
[Journal Article] The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.2016
- Author(s)
  Sumida K, Inoue K, Takanashi JI, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Mastuda H, Sato N
- Journal Title
  
  Brain Dev
  
  Volume: in press Issue: 6 Pages: 571-80
- DOI
  10.1016/j.braindev.2015.12.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485, KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-16H05361
[Journal Article] Brain atrophy in Pelizaeus-Merzbacher disease.2016
- Author(s)
  Inoue K
- Journal Title
  
  Dev Med Child Neurol.
  
  Volume: 58 Issue: 7 Pages: 653-653
- DOI
  10.1111/dmcn.13077
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05361
[Journal Article] Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH2015
- Author(s)
  Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Okubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T, Inoue K
- Journal Title
  
  Neurobiology of Disease
  
  Volume: In Press Pages: 1-14
- DOI
  10.1016/j.nbd.2015.04.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24510280, KAKENHI-PROJECT-25505001, KAKENHI-PROJECT-25670485, KAKENHI-PROJECT-24300130
[Journal Article] Pathophysiology and emerging therapeutic strategies in Pelizaeus-Merzbacher Disease.2015
- Author(s)
  Osaka H, Inoue K.
- Journal Title
  
  Expert Opinion on Orphan Drugs.
  
  Volume: 3 Issue: 12 Pages: 1447-1458
- DOI
  10.1517/21678707.2015.1106315
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15H04878, KAKENHI-PROJECT-25670485
[Journal Article] Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria medicine, cloroquine2014
- Author(s)
  Morimura T, Numata Y, Nakamura S, Hirano E, Gotoh L, Goto YI, Urushitani M, Inoue K.
- Journal Title
  
  Exp. Biol. Med. (Maywood)
  
  Volume: 239 Pages: 489-501
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23580417
[Journal Article] SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome.2014
- Author(s)
  Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K.
- Journal Title
  
  HumGenVar
  
  Volume: 1 Issue: 1 Pages: 14010-14010
- DOI
  10.1038/hgv.2014.10
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670485
[Journal Article] Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes2014
- Author(s)
  Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Oasaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H
- Journal Title
  
  Stem Cell Rep
  
  Volume: 2 Issue: 5 Pages: 1-14
- DOI
  10.1016/j.stemcr.2014.03.007
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23618010, KAKENHI-PROJECT-24500447, KAKENHI-PUBLICLY-25110730, KAKENHI-PROJECT-25640038, KAKENHI-PROJECT-25670485
[Journal Article] Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.2014
- Author(s)
  Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K.
- Journal Title
  
  J Neurol.
  
  Volume: 261(4) Issue: 4 Pages: 752-758
- DOI
  10.1007/s00415-014-7263-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591615, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485
[Journal Article] Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.2014
- Author(s)
  Lassuthova P, Zaliova M, Inoue K, Haberlova J, Sixtova K, Sakmaryova I,Paderova K, Mazanec R, Zamecnik J, Siskova D, Garbern J, Seeman P.
- Journal Title
  
  J Child Neurol
  
  Volume: 0 Issue: 7 Pages: 0-0
- DOI
  10.1177/0883073813492387
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670485
[Journal Article] Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine.2014
- Author(s)
  Morimura T, Numata Y, Nakamura S, Hirano E, Gotoh L, Goto YI, Urushitani M, Inoue K.
- Journal Title
  
  Exp Biol Med
  
  Volume: 239 Issue: 4 Pages: 489-501
- DOI
  10.1177/1535370213520108
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-23111001, KAKENHI-PROJECT-23580417, KAKENHI-PROJECT-25670485
[Journal Article] GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.2014
- Author(s)
  Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 111 Issue: 3 Pages: 393-8
- DOI
  10.1016/j.ymgme.2013.12.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670485
[Journal Article] 先天性大脳白質形成不全症:ゲノム解析から診断、治療への取り組み2013
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至,小坂仁
- Journal Title
  
  脳と発達
  
  Volume: 45(2) Pages: 122-126
- NAID
  10031156273
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] 先天性大脳白質形成不全症ーゲノム解析から診断・治療への取り組み2013
- Author(s)
  井上健、岩城明子、黒澤健司、高梨潤一、出口貴美子、山本俊至、小坂仁
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 122-126
- NAID
  10031156273
- Data Source
  KAKENHI-PROJECT-24591615
[Journal Article] 先天性大脳白質形成不全症：ゲノム解析から診断、治療への取り組み2013
- Author(s)
  井上　健　他６名
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 122-126
- NAID
  10031156273
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2013
- Author(s)
  98. Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M,
- Journal Title
  
  Brain Dev.
  
  Volume: May 3 Issue: 3 Pages: 259-263
- DOI
  10.1016/j.braindev.2013.03.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670485
[Journal Article] Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease2013
- Author(s)
  Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue K.
- Journal Title
  
  J. Biol. Chem
  
  Volume: 288 Pages: 7451-7466
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23580417
[Journal Article] Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.2013
- Author(s)
  Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue, K.
- Journal Title
  
  The Journal of Biological Chemistry
  
  Volume: 288 Issue: 11 Pages: 7451-7466
- DOI
  10.1074/jbc.m112.435388
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23580417, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-24659486
[Journal Article] 先天性大脳白質形成不全症：ゲノム解析から診断、治療への取り組み2013
- Author(s)
  井上　健，岩城明子，黒澤健司，高梨潤一，出口貴美子，山本俊至，小坂　仁
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 122-126
- NAID
  10031156273
- Data Source
  KAKENHI-PROJECT-24591615
[Journal Article] Correlation between multiple ret mutations and severity of hirschsprung's disease2013
- Author(s)
  Ishii K, Doi T, Inoue K, Okawada M, Lane GJ, Yamataka A, Akazawa C
- Journal Title
  
  Pediatr Surg Int
  
  Volume: 29(2) Pages: 157-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] 先天性大脳白質形成不全症：ゲノム解析から診断、治療への取り組み2013
- Author(s)
  井上　健，岩城明子，黒澤健司，高梨潤一，出口貴美子，山本俊至，小坂　仁
- Journal Title
  
  脳と発達
  
  Volume: 45 Pages: 122-126
- NAID
  10031156273
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670485
[Journal Article] Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.2013
- Author(s)
  Matsufuji M, Osaka H, Gotoh L, Shimbo H, Takashima S, Inoue K
- Journal Title
  
  Pediatric Neurology
  
  Volume: 49 Issue: 6 Pages: 477-81
- DOI
  10.1016/j.pediatrneurol.2013.07.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670485
[Journal Article] Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease2013
- Author(s)
  Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue K
- Journal Title
  
  J Biol Chem.
  
  Volume: 288(11) Pages: 7451-7466
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'2012
- Author(s)
  Inoue K
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Issue: 9 Pages: 553-554
- DOI
  10.1038/jhg.2012.85
- NAID
  10031056768
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease2012
- Author(s)
  Yu L-H, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K
- Journal Title
  
  Mol Genet Metab
  
  Volume: 106 Pages: 108-114
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Brain N-acetylaspartate is increased in mice with hypomyelination2012
- Author(s)
  Takanashi J, Saito S, Aoki I, Barkovich J, Itoh Y, Inoue K.
- Journal Title
  
  J Magn Reson Imaging
  
  Volume: 35 Issue: 2 Pages: 418-425
- DOI
  10.1002/jmri.22817
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22890240, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-24591790
[Journal Article] Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease2012
- Author(s)
  Yu LH, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K.
- Journal Title
  
  Mol. Genet. Metab
  
  Volume: 106 Pages: 108-114
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23580417
[Journal Article] Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease2012
- Author(s)
  Yu L-H, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K.
- Journal Title
  
  Mol Genet Metab
  
  Volume: 106 Issue: 1 Pages: 108-114
- DOI
  10.1016/j.ymgme.2012.02.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-21591425, KAKENHI-PROJECT-23659531
[Journal Article] Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.2012
- Author(s)
  Yu LH, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 106(1) Pages: 108-114
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591615
[Journal Article] Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.2012
- Author(s)
  Yu LH, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K.
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 106 Pages: 108-114
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23580417
[Journal Article] 先天性大脳白質形成不全症：Pelizaeus-Merzbacher病とその類縁疾患2011
- Author(s)
  井上　健　他６名
- Journal Title
  
  脳と発達
  
  Volume: 43 Pages: 435-442
- NAID
  10030290993
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations2011
- Author(s)
  Noguchi E, Sakamoto H, Hirota T, Ochiai K, Imoto Y, Sakashita M, Kurosaka F, Akasawa A, Yoshihara S, Kanno N, Yamada Y, Shimojo N, Kohno Y, Suzuki Y, Kang MJ, Kwon JW, Hong SJ, Inoue K, Goto Y, Yamashita F, Asada T, Hirose H, Saito I, Fujieda S, Hizawa N, Sakamoto T, Masuko H, Nakamura Y, Nomura I, Tamari M, Arinami T, Yoshida T, Saito H, Matsumoto K
- Journal Title
  
  PLoS Genet
  
  Volume: 7(7) Issue: 7 Pages: 1002170-1002170
- DOI
  10.1371/journal.pgen.1002170
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22791583, KAKENHI-PROJECT-23390262, KAKENHI-PROJECT-23791204, KAKENHI-PROJECT-21390303
[Journal Article] 先天性大脳白質形成不全症: Pelizaeus-Merzbacher 病とその類縁疾患2011
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至,小坂仁
- Journal Title
  
  脳と発達
  
  Volume: 43(6) Pages: 435-442
- NAID
  10030290993
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659531
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.2011
- Author(s)
  Saitsu H. et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 89 Issue: 5 Pages: 644-651
- DOI
  10.1016/j.ajhg.2011.10.003
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PUBLICLY-23112718, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-23687025, KAKENHI-PROJECT-23689052
[Journal Article] Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations2011
- Author(s)
  Noguchi E, 他33名
- Journal Title
  
  PLoS Genet
  
  Volume: 7 Issue: 7 Pages: e1002171-e1002171
- DOI
  10.1371/journal.pgen.1002171
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22590834, KAKENHI-PROJECT-23390397, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-21390303
[Journal Article] 先天性大脳白質形成不全症:Pelizaeus-Merzbacher病とその類縁疾患2011
- Author(s)
  井上健, 他6名
- Journal Title
  
  脳と発達(総説)
  
  Volume: 43 Pages: 435-442
- NAID
  10030290993
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591425
[Journal Article] 先天性大脳白質形成不全症:Pelizaeus-Merzbacher病とその類縁疾患2011
- Author(s)
  井上健, 他6名
- Journal Title
  
  脳と発達(総説)
  
  Volume: 43 Pages: 435-442
- NAID
  10030290993
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] 小坂仁先天性大脳白質形成不全症: Pelizaeus-Merzbacher病とその類縁疾患2011
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至, 小坂仁
- Journal Title
  
  脳と発達
  
  Volume: 43(6) Pages: 435-442
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591425
[Journal Article] Sox10-Venus mice : a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes2010
- Author(s)
  Shibata S, Yasuda A, Renault-Mihara F, Suyama S, Katoh H, Inoue T, Inoue, YU, Nagoshi N, Sato M, Nakamura M, Akazawa C, Okano H
- Journal Title
  
  Mol.Brain
  
  Volume: 3 Pages: 31-31
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Sox10-Venus mice : a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes2010
- Author(s)
  Shibata S, Yasuda A, Renault-Mihara F, Suyama S, Katoh H, Inoue T, Inoue, YU, Nagoshi N, Sato M, Nakamura M, Akazawa C, Okano H.
- Journal Title
  
  Mol Brain
  
  Volume: 3 Issue: 1 Pages: 31-31
- DOI
  10.1186/1756-6606-3-31
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-21500333
[Journal Article] Low copy repeatとゲノム病2010
- Author(s)
  井上健
- Journal Title
  
  日本臨床
  
  Volume: 68増刊号8 Pages: 80-86
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Abnormal enteric innervation identified without histopathologic staining in aganglionic colorectum from a mouse model of Hirschsprung's disease2010
- Author(s)
  Miyahara K, Kato Y, Koga H, Lane G J, Inoue T, Akazawa C, Yamataka A.
- Journal Title
  
  J Pediatr Surg
  
  Volume: 45 Issue: 12 Pages: 2403-2407
- DOI
  10.1016/j.jpedsurg.2010.08.039
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Low copy repeatとゲノム病遺伝子診療学2010
- Author(s)
  井上健
- Journal Title
  
  日本臨床
  
  Volume: 68増刊号8 Pages: 80-86
- URL
  http://www.nippon-rinsho.co.jp/backnum/z_mokuji/6808idensi.html
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease2010
- Author(s)
  Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K
- Journal Title
  
  Annals of Neurology
  
  Volume: 68(2) Pages: 250-254
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease2010
- Author(s)
  Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.
- Journal Title
  
  Ann Neurol
  
  Volume: 68 Issue: 2 Pages: 250-4
- DOI
  10.1002/ana.22022
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Pelizaeus-Merzbacher病-Double, Double…and Trouble-2009
- Author(s)
  井上健, 小坂仁
- Journal Title
  
  小児科
  
  Volume: 50 Pages: 881-887
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Pelizaeus-Merzbacher病-Double, Double and Trouble2009小児科2009
- Author(s)
  井上健,小坂仁
- Journal Title
  
  小児疾患における臨床遺伝学の進歩
  
  Volume: 50(7)増刊号 Pages: 881-887
- Data Source
  KAKENHI-PROJECT-21390103
[Journal Article] Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation2007
- Author(s)
  Osaka, H., Ogiwara, I., Mazaki, E., Okamura, N., Yamashita, S., Imai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui-Furukori, N., Kaneko, S., Fujiwara, T., Inoue, Y., Yamakawa, K
- Journal Title
  
  Epilepsy Research 75
  
  Pages: 46-51
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Translation of SOX1O 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.2007
- Author(s)
  Inoue K.
- Journal Title
  
  Hum Mol Genet. 16
  
  Pages: 3037-3046
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Translation of SOX10 3' untranslated region causes a complex severeneurocristopathy by generation of a deleterious functional domain.2007
- Author(s)
  Inoue K, Ohyama T, Sakuragi Y, 他
- Journal Title
  
  Human Molecular Genetics 16
  
  Pages: 3037-3046
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.2007
- Author(s)
  Inoue K, et. al.
- Journal Title
  
  Hum Mol Genet 16
  
  Pages: 3037-46
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family2007
- Author(s)
  Takano K, Nakagawa E, Inoue K, 他
- Journal Title
  
  American Journal of Medical Genetics B on-line advance publicattion
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Patients with sodium channel alpha 1 gene mutation show wide phenotypic variation2007
- Author(s)
  Osaka, H., Ogiwara, I., Mazaki, E., Okamura, N., Yamashita, S., Iai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui-Furukori, N., Kanneko, S., Fujiwara, T., Inoue, Y., Yamakawa, K
- Journal Title
  
  Epilepsy Research 75
  
  Pages: 46-51
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590967
[Journal Article] Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdpl recessive neomorphic mutation2007
- Author(s)
  Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, 他 InoueK, 他
- Journal Title
  
  EMBO J 26
  
  Pages: 4732-4743
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19659277
[Journal Article] プロテオリピッドプロテイン1の遺伝子変異に基づく髄鞘形成不全疾患2006
- Author(s)
  井上健
- Journal Title
  
  生体の科学 57
  
  Pages: 213-218
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Pelizaeus-Merzbacher disease and spastic paraplegia type 2: mechanistic similarities with and differences from Charcot-Marie-Tooth disease type 1A/heredirary neuropathy with liability to pressure palsies. In Stankiewicz P, Lupski JR, eds. Genomic Disoider: The Genomic Basis of Disease.2006
- Author(s)
  Inoue K.
- Journal Title
  
  Humana Press Totowa,NJ.
  
  Pages: 263-272
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Inherited dysmyelinating disoiders associated with PLP1 mutations.2006
- Author(s)
  Inoue K.
- Journal Title
  
  Seitai no Kagaku. 57
  
  Pages: 213-218
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease2006
- Author(s)
  Khajavi M, Inoue K, Lupski JR
- Journal Title
  
  Eur J Hum Genet 14
  
  Pages: 1074-1081
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Chromosomal abnormalities and genomic disorders.2005
- Author(s)
  Inoue K
- Journal Title
  
  Nippon Rinsho. 63Supppl
  
  Pages: 64-69
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] 染色体異常とgenomic disorders2005
- Author(s)
  井上健
- Journal Title
  
  日本臨床 63増刊号12
  
  Pages: 64-69
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] Brains of extremely premature infants with white matter injury also exhibit altered neural progenitor cells and cortical development.
- Author(s)
  Deguchi K, Takashima S, Armstrong DL, Inoue K
- Journal Title
  
  (In preparation)
- Data Source
  KAKENHI-PROJECT-17659324
[Journal Article] Neurological phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1
- Author(s)
  Deguchi K, Clewing JM, Elizndo LI, 他 Inoue K, 他
- Journal Title
  
  J Neuropath Exp Neurol In press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19659277
[Patent] トランスジェニック非ヒト動物2009
- Inventor(s)
  赤澤智宏、井上高良、井上健、高坂新一
- Industrial Property Rights Holder
  赤澤智宏、井上高良、井上健、高坂新一
- Industrial Property Number
  2009-001082
- Filing Date
  2009-01-06
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] ペリツェウス・メルツバッハ病:髄鞘形成不全の分子病態と治療法開発2024
- Author(s)
  井上　健
- Organizer
  第8回日本ミエリン研究会
- Invited
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] Waardenburg 症候群と大脳白質形成不全症と表現型の異なるSOX10遺伝子異常の兄妹例2024
- Author(s)
  荒井篤、田畑健士郎、齋藤貴志、野々田豊、山本薫、住友典子、山本寿子、馬場信平、竹下絵里、本橋裕子、井上健、小牧宏文
- Organizer
  多摩神経懇話会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] PMDの新規細胞病態：カルシウムの恒常性障害を介したミトコンドリア機能破綻2023
- Author(s)
  李コウ、三島玲子、後藤雄一、井上健
- Organizer
  第４６回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] 運動機能障害の緩やかな進行を契機に診断に至ったPOLR1C遺伝子変異によるPolⅢ関連白質ジストロフィーの一例2023
- Author(s)
  谷口直子、下村英毅、田中めぐみ、徳永沙知、李知子、井上健、黒澤健司、才津浩智、竹島泰弘
- Organizer
  第65回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] 先天性大脳白質形成不全症：診断，病態，そして治療への展望2023
- Author(s)
  井上健
- Organizer
  第29回日本小児神経学会東北地方会
- Invited
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] 疾患特異的iPS細胞を用いたペリツェウス・メルツバッハ病病態モデル構築と表現系解析2023
- Author(s)
  鈴木禎史、李コウ、後藤雄一、井上健
- Organizer
  第64回日本神経病理学会総会学術研究会/第66回日本神経化学会大会合同大会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] An open-label trial of bioavailable-form curcumin on patients with Pelizaeus-Merzbacher disease.2023
- Author(s)
  Inoue K, Yamamoto A, Shimizu-Motohashi Y, Ishiyama A, Sasaki M, Sato N, Osaka H, Takanashi J.
- Organizer
  15th European Paediatric Neurology Society Congress.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] A case of PCWH with a novel missense mutation in the SOX10 gene.2021
- Author(s)
  木許恭宏，前田謙一，池田俊郎，井上　健，盛武　浩
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] The time-course changes of electroencephalogram findings in a girl with loss-of-function mutations of SMC1A.2021
- Author(s)
  Kazuhiko Hashimoto, Eiji Nakagawa, Shimpei Baba, Noriko Sumitomo, Eri Takeshita, Yuko Shimizu-Motohashi, Takashi Saito, Chihiro Abe-Hatano, Ken Inoue, Aritoshi Iida, Keiko Ishikawa, Yukihide Momozawa, Shunichi Kosugi, Michiaki Kubo, Masayuki Sasaki, Yu-ichi Goto.
- Organizer
  The 22nd Annual Meeting of the Infantile Seizure Society
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] Diagnostic support for hypomyelinating leukodystrophies: through the consultation consortium.2021
- Author(s)
  井上　健、植松有里佳、黒澤健司、才津浩智、高梨潤一、山本俊至、小坂　仁
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] A family with intellectual and language impairment having a 2p14 microdeletion disrupting ACTR2 and RAB1A.2021
- Author(s)
  田畑健士郎、石山昭彦、本橋裕子、竹下絵里、齋藤貴志、中川栄二、佐々木征行、後藤雄一、井上健
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.2021
- Author(s)
  樫木　仁、李コウ、宮本祥子、上野弘恵、鶴崎美徳、池田ちづる、藏田洋文、岡田拓巳、島津智之、今村穂積、榎本友美、髙梨潤一、黒澤健司、才津浩智、井上　健
- Organizer
  第63回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-21H02886
[Presentation] Gene suppressing therapy for Pelizaeus-Merzbacher disease using AAV harboring PLP1-targeting artificial miRNA.2020
- Author(s)
  Li H, Okada H, Suzuki S, Sakai K, Ichinohe N, Goto Y, Okada T, Inoue K.
- Organizer
  American society of gene & cell therapy 23rd Annual Meeting.
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] Developing molecular therapies for childhood white matter diseases: Pelizaeus-Merzbacher disease2019
- Author(s)
  Inoue K
- Organizer
  15th Asian Oceanian Congress of Child Neurology
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] Pelizaeus-Merzbacher病におけるPLP1遺伝子重複を標的としたAAVによるartificial miRNA遺伝子治療2019
- Author(s)
  118.李コウ, 岡田浩典, 鈴木禎史, 境和久, 泉仁美, 松島由紀子,一戸紀孝, 岡田尚巳, 後藤雄一, 井上　健
- Organizer
  NEURO2019
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] Pelizaeus-Merzbacher病に対する遺伝子治療2019
- Author(s)
  井上　健
- Organizer
  第61回日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] PLP1 gene suppression therapy for Pelizaeus-Merzbacher disease using artificial miRNA2019
- Author(s)
  Inoue K, Li H, Okada H, Suzuki S, Sakai K, Ichinohe N, Goto Y, Okada T.
- Organizer
  The American Society of Human Genetics Annual Meeting 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] To understand and fix the problems of hypomyelinating leukodystrophy2019
- Author(s)
  Inoue K.
- Organizer
  Glial Section Annual Meeting of the Korean Society for Brain and Neural Sciences
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial miRNA.2019
- Author(s)
  Inoue K, Li H, Okada H, Suzuki S, Sakai K, Ichinohe N, Goto Y, Okada T.
- Organizer
  第64回人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19K22606
[Presentation] Improvement of cognitive deficits observed in a mouse model of extremely preterm infants with brain injuries2018
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Debabrata Hazra, Satoshi Yoshinaga, Ayako Kitazawa, Minkyung Shin, Keitaro Yoshida, Kenji F. Tanaka, Ken Inoue, and Kazunori Nakajima
- Organizer
  第123回日本解剖学会総会・全国学術集会
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] elizaeus-Merzbacher病におけるPLP1遺伝子重複を標的としたAAVによるartificial miRNA遺伝子治療2018
- Author(s)
  李コウ、岡田浩典、境和久、岡田尚巳、一戸紀孝、後藤雄一、井上健
- Organizer
  第41回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] AAV gene therapy with artificial miRNA-mediated oligodendrocyte-specific gene suppression: implication for the treatment of Pelizaeus-Merzbacher disease with PLP1 duplication.2018
- Author(s)
  Inoue K, Li H, Okada H, Goto Y, Okada T.
- Organizer
  The American Society of Human Genetics Annual Meeting 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 線維芽細胞から神経細胞へのdirect conversionによる疾患原因遺伝子変異の機能解析2018
- Author(s)
  植松有里佳、植松貢、佐藤亮、井上　健、呉繁夫
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Neuronal network damage in mouse model of extremely preterm infants with brain injury.2018
- Author(s)
  K. Deguchi, K. Kubo, K. Inoue, K. Nakajima.
- Organizer
  ISDN 2018: 22nd Biennial Meeting of the International Society of Developmental Neuroscience
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Clinical and genomic characterization of seven novel PLP1 deletion cases reveals large-deletion syndrome specific to female cases.2018
- Author(s)
  H. Hijazi, G.M. Hobson, L. Bernardini, S.S. Mar, M.A. Manning, A. Hanson-Kahn, C. Gonzaga-Jauregui, P. Simons, K. Sperle, F.S. Coelho, J.A. Lee, P. Fang, S.W. Cheung, K. Inoue, D. Pehlivan, J.R. Lupski, C.M.B Carvalho
- Organizer
  The American Society of Human Genetics Annual Meeting 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] TUBB4A関連白質変性症7例のMR spectroscopyによる検討2018
- Author(s)
  佐野賢太郎、室伏佑香、森山陽子、安藤直樹、池野充、井上　健、小坂仁、後藤知英、佐々木征行、萩野谷和裕、森本昌史、和田敬仁、髙梨潤一
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Aritificial miRNAシステムを用いたAAV遺伝子発現抑制治療法の開発：Pelizaeus-Merzbacher病の治療法開発を目指して2018
- Author(s)
  井上健、李コウ、岡田浩典、後藤雄一、岡田尚巳
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Development of AAV enabling oligodendrocyte-specific gene suppression: implication for the treatment of Pelizaeus-Merzbacher disease.2018
- Author(s)
  Inoue K, Li, H Okada H, Goto Y, Okada T
- Organizer
  11th FENS, Forum of Neuroscience.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 先天性大脳白質形成不全症の診断サポートのためのコンサルテーションボード2018
- Author(s)
  井上　健、黒澤健司、才津浩智、山本俊至、小坂　仁、高梨潤一
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Chemical chaperone screening for Pelizaeus-Merzbacher disease.2018
- Author(s)
  T. Kouga, S. Koizume, E. Jimbo, T. Yamagata, K. Inoue, H. Osaka.
- Organizer
  The American Society of Human Genetics Annual Meeting 2018.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 大脳白質形成不全を呈する疾患原因の解明Congenital cerebral hypomyelination．2017
- Author(s)
  小坂　仁，井上　健
- Organizer
  第59回日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] マウスにおける神経発達障害モデルの作成とその解析2017
- Author(s)
  久保健一郎、出口貴美子、石井一裕、井上健、仲嶋一範
- Organizer
  第39回日本生物学的精神医学会・第47回日本神経精神薬理学会合同年会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] 超早産児に生じる脳障害のマウスモデル作成の試み2017
- Author(s)
  久保健一郎、出口貴美子、永井拓、シャンウェイ、北澤彩子、荒巻道彦、石井一裕、シンミンギョン、高嶋幸男、中山雅弘、伊藤雅之、アンタルフィバーバラ、アームストロングダーナ、山田清文、井上健、仲嶋一範
- Organizer
  第52回TOKYOニューロサイエンス研究会
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] 急性散在性脳脊髄炎(ADEM)を発症したPolIII関連白質ジストロフィーの一例2017
- Author(s)
  松岡剛司, 比屋根真彦, 大府正治, 山本俊至, 小坂仁, 高梨潤一, 才津浩智, 井上健.
- Organizer
  第59回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 統合脳画像収集システムIBISSを利用したPelizaeus-Merzbcher病の臨床画像解析と疾患レジストリへの展開2017
- Author(s)
  井上　健、住田　薫、高梨潤一、松田博史、佐々木征行、佐藤典子
- Organizer
  第59回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 超早産児脳障害のモデルマウス脳における組織構築の解析2017
- Author(s)
  久保健一郎、出口貴美子、北澤彩子、石井一裕、シンミンギョン、高嶋幸男、中山雅弘、伊藤雅之、井上健、仲嶋一範
- Organizer
  第122回日本解剖学会総会・全国学術集会
- Place of Presentation
  長崎大学坂本キャンパス、長崎市(長崎県)
- Year and Date
  2017-03-28
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] Genetic, clinical, and imaging study of Pelizaeus-Merzbacher disease using the Integrative Brain Imaging Support System (IBISS).2017
- Author(s)
  Inoue K, Sumida K, Takanashi J, Matsuda H, Sasaki M, Sato N.
- Organizer
  The American Society of Human Genetics Annual Meeting 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 遺伝性白質疾患の診断・治療・研究システムの構築2017
- Author(s)
  小坂　仁，井上　健，三重野　牧子，吉田　誠克，久保田　雅也，佐々木　征行、松井　大，才津　浩智，髙梨　潤一，黒澤　健司，山本　俊至
- Organizer
  第59回日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 小胞体－ゴルジ体輸送障害：Pelizaeus-Merzbacher病の新規細胞分子病態2017
- Author(s)
  井上健、李コウ、植松有里佳、後藤雄一
- Organizer
  第62回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 認知機能障害を伴うマウスモデルの作成とその脳における細胞構築の解析2017
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Kazuhiro Ishii, Ken Inoue, and Kazunori Nakajima
- Organizer
  第60回日本神経化学会大会
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] Abnormal neuronal migration with ischemic brain injuries in extremely preterm infants underlies subsequent cognitive impairment2017
- Author(s)
  Kimiko Deguchi, Ken-ichiro Kubo, Kazunori Nakajima, and Ken Inoue
- Organizer
  12th European Paediatric Neurology Society (EPNS) Congress
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] Development of treatment for Pelizaeus-Merzbacher disease: drug-repositioning approach targeting a novel cellular pathology.2017
- Author(s)
  K Inoue, H Li, Y Numata, H Saya, Y Goto.
- Organizer
  12th European Pediatric Neurology Society Congress.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Establishment of a mouse model of extremely preterm infants with brain injuries and analysis of neuronal migration2017
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Taku Nagai, Keitaro Yoshida, Wei Shan, Ayako Kitazawa, Michihiko Aramaki, Kazuhiro Ishii, Shin Minkyung, Kenji F. Tanaka, Sachio Takashima, Masahiro Nakayama, Masayuki Itoh, Yukio Hirata, Barbara Antalffy, Dawna D. Armstrong, Kiyofumi Yamada, Ken Inoue, and Kazunori Nakajima
- Organizer
  第40回日本神経科学大会
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] 超早産児脳障害のモデルマウス脳における組織構築の解析2017
- Author(s)
  久保　健一郎、出口　貴美子、北澤　彩子、石井　一裕、シン　ミンギョン、高嶋　幸男、中山　雅弘、伊藤　雅之、井上　健、仲嶋　一範
- Organizer
  第122回日本解剖学会総会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Reelin coupled with myelin may play a role in long term maintenance of myelin2016
- Author(s)
  Kimiko Deguchi，Takao Honda, Ken-ichiro Kubo, Kazunori Nakajima,and Ken Inoue
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル新宿、新宿(東京都）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] Reelin coupled with myelin may play a role in long-term maintenance of myelin2016
- Author(s)
  Kimiko Deguchi, Takao Honda, Ken-ichiro Kubo, Kazunori Nakajima, and Ken Inoue
- Organizer
  21st Biennial Meeting of the International Society for Developmental Neuroscience (ISDN2016)
- Place of Presentation
  Antibes-Juan les Pins, France
- Year and Date
  2016-05-11
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] Impaired ER-Golgi trafficking as a novel therapeutic target for Pelizaeus-Merzbacher disease caused by PLP1 amino acid substitutions.2016
- Author(s)
  K Inoue, H Li, P.R. Mangalika, A Nishizawa, H Saya, Y Goto.
- Organizer
  The American Society of Human Genetics Annual Meeting 2016
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] ER-Golgi transport may serve as a novel drug target for Pelizaeus-Merzbacher disease caused by PLP1 amino acid substitutions.2016
- Author(s)
  K Inoue, H Li, P.R. Mangalika, A Nishizawa, Y Numata, S Nakamura, T Morimura, H Saya, Y Goto.
- Organizer
  13th International Congress of Human Genetics.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Why does cognitive impairment frequently develop later in extremely preterm infants2016
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Taku Nagai, Wei Shan, Ayako Kitazawa, Michihiko Aramaki, Kazuhiro Ishii, Shin Minkyung, Sachio Takashima, Masahiro Nakayama, Masayuki Itoh, Barbara Antalffy, Dawna D. Armstrong, Kiyofumi Yamada, Ken Inoue, and Kazunori Nakajima
- Organizer
  Cell Symposia: Big Questions in Neuroscience
- Place of Presentation
  Paradise Point Resort & Spa,San Diego, California, U.S.A.
- Year and Date
  2016-11-10
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] 新規細胞病態を標的としたPelizaeus-Merzbacher病の治療薬の探索2016
- Author(s)
  井上　健、マンガリイ・プリアンティ、西澤絢子、李コウ、中村祥子、佐谷秀行、後藤雄一
- Organizer
  第58回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] Additive dominant effect of a SOX10 mutation underlying the complex phenotypes of PCWH.2016
- Author(s)
  K. Inoue, Y. Ito, N. Inoue, Y.U. Inoue, S. Nakamura, Y. Matsuda, M. Inagaki, T. Ohkubo, J. Asami, Y.W. Terakawa, S. Kohsaka, Y. Goto, C. Akazawa, T. Inoue.
- Organizer
  21st Biennial Meeting of the International Society for Developmental Neuroscience.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05361
[Presentation] 環境要因としての虚血ストレスが大脳皮質の発達に与える影響2016
- Author(s)
  久保健一郎、出口貴美子、井澤栄一、井上健、仲嶋一範
- Organizer
  フォーラム2016：衛生薬学・環境トキシコロジー
- Place of Presentation
  昭和大学旗の台キャンパス、品川区(東京都）
- Year and Date
  2016-09-10
- Invited
- Data Source
  KAKENHI-PROJECT-15K09723
[Presentation] 既存薬ドラッグ・リポジショニングによるPelizaeus-Merzbacher病の治療候補薬の探索2015
- Author(s)
  井上　健、マンガリイ・プリアンティ、西澤絢子、李珩、沼田有里佳、中村祥子、守村敏史、佐谷秀行、後藤雄一
- Organizer
  第57回日本小児神経学会総会
- Place of Presentation
  大阪（帝国ホテル大阪）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Seeking drugs for Pelizaeus-Merzbacher disease using drug repositioning approach targeting a novel cellular pathology.2015
- Author(s)
  K Inoue, P.R. Mangalika, A Nishizawa, H Li, Y Numata, S Nakamura, T Morimura, H Saya, Y Goto.
- Organizer
  The 65th American Society of Human Genetics Annual Meeting
- Place of Presentation
  Baltimore Convention Center, Baltimore, USA
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Abnormal cortical architectures and neuropsychiatric disorders2014
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Taku Nagai, Wei Shan, Ayako Kitazawa, Michihiko Aramaki, Kazuhiro Ishii, Kiyofumi Yamada, Ken Inoue, Kazunori Nakajima
- Organizer
  第87回日本薬理学会年会
- Place of Presentation
  東北大学百周年記念会館川内萩ホール・仙台国際センター、仙台（宮城県）
- Invited
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Preclinical studies for the treatment of Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine2013
- Author(s)
  Inoue K, Morimura T,Numata Y,Yu L-H, Gotoh L, Yamamoto R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y.
- Organizer
  23rd Meeting of the European Neurological Society
- Place of Presentation
  Barcelona, Spain (一般)
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] More than ER stress : molecular mechanism for misfolded PLP1 that impacts subcellular dynamics and clinical severity of Pelizaeus-Merzbacher disease2013
- Author(s)
  Numata Y, Morimura T, NakamuraS, Hirano E, Kure S, Goto Y, Inoue K.
- Organizer
  62rd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Boston, USA(一般)
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] More than ER stress: molecular mechanism for misfolded PLP1 that impacts subcellular dynamics and clinical severity of Pelizaeus-Merzbacher disease.2013
- Author(s)
  Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto Y, Inoue K.
- Organizer
  62rd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Boston, USA（Boston Convention & Exhibition Center）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Abnormal neuronal migration with ischaemic brain injuries may cause cognitive dysfunction in extremely preterm infants.2013
- Author(s)
  Deguchi K, Kubo K, Armstrong D, Nakajima K, Inoue K.
- Organizer
  23rd Meeting of the European Neurological Society
- Place of Presentation
  Barcelona, Spain（Fira de Barcelona）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Preclinical studies for the treatment of Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine.2013
- Author(s)
  Inoue K, Morimura T, Numata Y, Yu L-H, Gotoh L, Yamamoto R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y.
- Organizer
  23rd Meeting of the European Neurological Society
- Place of Presentation
  Barcelona, Spain（Fira de Barcelona）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] More than ER stress: molecular mechanism for misfolded PLP1 that impacts subcellular dynamics and clinical severity of Pelizaeus-Merzbacher disease. 2013.10.22-26.2013
- Author(s)
  Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto Y, Inoue K.
- Organizer
  62rd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  ボストン（アメリカ）
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] Abnormal neuronal migration with ischaemic brain injuries may cause cognitive dysfunction in extremely preterm infants2013
- Author(s)
  Kimiko Deguchi, Ken-ichiro Kubo, Dawna Armstrong, Kazunori Nakajima, and Ken Inoue
- Organizer
  23nd Meeting of the European Neurological Society (ENS)
- Place of Presentation
  Convention Centre Gran Via, Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Preclinical studies for the treatment of Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine.2013
- Author(s)
  Inoue K, Morimura T, Numata Y, Yu L-H, Gotoh L, Yamamoto R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y
- Organizer
  23nd Meeting of the European Neurological Society (ENS)
- Place of Presentation
  Convention Centre Gran Via, Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Brain N-acetylaspartate is Increased in mouse models of Pelizaeus-Merzbacher disease: implication for human imaging findings.2013
- Author(s)
  Inoue K, Itoh Y, Saito S, Aoki I, Barkovich J, Takanashi J.
- Organizer
  62rd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Boston, USA（Boston Convention & Exhibition Center）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Preclinical studies for the treatment of Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine.2013
- Author(s)
  InoueK, Morimura T,Numata Y,Yu L-H, Gotoh L, Yamamoto R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y.
- Organizer
  23rd Meeting of the European Neurological Society
- Place of Presentation
  バルセロナ（スペイン）
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] Treating Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine : preclinical studies2012
- Author(s)
  Inoue K, Morimura T, Numata Y, Yu, H, Gotoh L, Yamamoto R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y.
- Organizer
  62nd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA(一般)
- Year and Date
  2012-11-08
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] Epidemiological and molecular diagnostic landscape of Pelizaeus- Merzbacher disease and associated disorders in Japan: a nation-wide survey2012
- Author(s)
  Inoue K, Numata Y, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H
- Organizer
  22nd Meeting of the European Neurological Society
- Place of Presentation
  Prague, Czech
- Year and Date
  2012-06-11
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 複合型神経堤症候群PCWH:Tg マウスによる疾患モデルの作成2012
- Author(s)
  井上健、後藤雄一
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2012-05-19
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Treating Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine: preclinical studies2012
- Author(s)
  Ken Inoue, Toshifumi Morimura, Yurika Numata, Li-Hua Yu, Leo Gotoh, Ryoko Yamamoto, Naoko Inoue, Barbara Antalfy, Kimiko Deguchi, Hitoshi Osaka, Yu-ichi Goto
- Organizer
  62^nd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA
- Year and Date
  2012-11-08
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 小胞体ストレス関連疾患（Pelizaeus-Merzbacher病）における、小胞体からのシャペロンの排除2012
- Author(s)
  沼田有里佳，守村敏史，有馬恵里子，後藤雄一，井上　健
- Organizer
  第35回神経科学大会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 先天性大脳白質形成不全症：ゲノム解析から診断、治療への取り組み2012
- Author(s)
  井上　健，岩城明子，黒澤健司，高梨潤一，出口貴美子，山本俊至，小坂　仁
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌市
- Invited
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Pelizaeus-Merzbacher病の治療法開発への試み2012
- Author(s)
  井上　健、守村敏史、沼田有里佳、Li-Hua Yu、後藤玲央、山本良子、井上直子、出口貴美子、小坂　仁、後藤雄一
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル、東京
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Pelizaeus-Merzbacher病の治療法開発への試み2012
- Author(s)
  井上　健、守村　敏史、沼田　有里佳、Li-Hua Yu、後藤　玲央、山本　良子、井上　直子、出口　貴美子、小坂　仁、後藤　雄一
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 超早産児の虚血性脳傷害モデルマウスを用いた解析；第３報2012
- Author(s)
  出口貴美子、久保健一郎、仲嶋一範、井上　健
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌市
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] 小胞体ストレス関連疾患(Pelizaeus-Merzbacher病)における、小胞体からのシャペロンの排除2012
- Author(s)
  沼田有里佳,守村敏史,有馬恵里子,後藤雄一,井上健
- Organizer
  第35回神経科学大会
- Place of Presentation
  名古屋(一般)
- Year and Date
  2012-09-19
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 小胞体ストレス関連疾患(Pelizaeus-Merzbacher 病)における、小胞体からのシャペロンの排除2012
- Author(s)
  沼田有里佳、守村敏史、有馬恵里子、後藤雄一、井上健
- Organizer
  第35回日本神経科学大会
- Place of Presentation
  名古屋(名古屋国際会議場)
- Year and Date
  2012-09-18
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Pelizaeus-Merzbacher 病の治療法開発への試み2012
- Author(s)
  井上健、守村敏史、沼田有里佳、Li-Hua Yu、後藤玲央、山本良子、井上直子、出口貴美子、小坂仁、後藤雄一
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  東京(京王プラザホテル)
- Year and Date
  2012-10-26
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 小胞体ストレス型Pelizaeus-Merzbacher病に対する抗マラリア薬であるクロロキンの応用2012
- Author(s)
  守村敏史、沼田由里佳、有馬恵里子、後藤玲央、後藤雄一、井上健
- Organizer
  第35回神経科学大会
- Place of Presentation
  名古屋(一般)
- Year and Date
  2012-09-19
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 先天性大脳白質形成不全症:ゲノム解析から診断、治療への取り組みシンポジウム「先天性大脳白質形成不全症-疾患概念の確立から、病態解析・治療的展開まで-」2012
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至,小坂仁
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2012-05-19
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine: preclinical studies.2012
- Author(s)
  Inoue K, Morimura T, NumataY, Yu H, Gotoh L, Yamamoto　R, Inoue N, Antalfy B, Deguchi K, Osaka H, Goto Y.
- Organizer
  62nd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] PLP1 部分欠失によるX連鎖性不完全優性痙性対麻痺の1 家系:PLP1null 変異の臨床的特異性について2012
- Author(s)
  松藤まゆみ、中村紀子、友納優子、井上貴仁、井上健、小坂仁、黒澤健司、宇都宮英綱、高嶋幸男
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2012-05-19
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Epidemiological and molecular diagnostic landscape of Pelizaeus-Merzbacher disease and associated disorders in Japan: a nation-wide survey.2012
- Author(s)
  Inoue, K Numata Y, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H.
- Organizer
  22nd Meeting of the European Neurological Society
- Place of Presentation
  Prague, Czech
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Treating Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine: preclinical studies.2012
- Author(s)
  Ken Inoue, Toshifumi Morimura, Yurika Numata, Li-Hua Yu, Leo Gotoh, Ryoko Yamamoto, Naoko Inoue, Barbara Antalfy, Kimiko Deguchi, Hitoshi Osaka , Yu-ichi Goto
- Organizer
  62nd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] 小胞体ストレス型Pelizaeus-Merzbacher 病に対する抗マラリア薬であるクロロキンの応用2012
- Author(s)
  守村敏史、沼田有里佳、有馬恵里子、後藤玲央、後藤雄一、井上健
- Organizer
  第35回日本神経科学大会
- Place of Presentation
  名古屋(名古屋国際会議場)
- Year and Date
  2012-09-21
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 白質形成不全症の臨床症状と分子病態シンポジウム「先天性大脳白質形成不全症-疾患概念の確立から、病態解析・治療的展開まで-」2012
- Author(s)
  小坂仁、井上健、才津浩智
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2012-05-19
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Toward the therapeutic intervention for hypomyelinating disorders in the CNS: Pelizaeus-Merzbacher disease2012
- Author(s)
  Ken Inoue, Toshifumi Morimura, Yurika Numata, Li-Hua Yu, Leo Gotoh, Ryoko Yamamoto, Naoko Inoue, Yu-ichi Goto
- Organizer
  2^nd Joint symposium between MPI and NCNP
- Place of Presentation
  Munich, Germany
- Year and Date
  2012-10-04
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Pelizaeus-Merzbacher病の治療法開発への試み2012
- Author(s)
  井上健、守村敏史、沼田有里佳、Li-Hua Yu、後藤玲央、山本良子、井上直子、出口貴美子、小坂仁、後藤雄一
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  東京(一般)
- Year and Date
  2012-10-26
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 小胞体ストレス型Pelizaeus-Merzbacher病に対する抗マラリア薬であるクロロキンの応用2012
- Author(s)
  守村敏史、沼田由里佳、有馬恵里子、後藤　玲央、後藤雄一、井上健
- Organizer
  第35回神経科学大会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 軽症型Pelizaeus-Merzbacher 病の分子病態:患者の皮膚由来の線維芽細胞、iPS 細胞による病態解析2012
- Author(s)
  沼田有里佳、涌澤圭介、植松貢、大沼晃、後藤雄一、井上健
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Year and Date
  2012-05-17
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Pelizaeus-Merzbacherlike-diseaseにおけるGJC2プロモーター変異の分子病態解析2011
- Author(s)
  後藤玲央、小坂仁、新保裕子、後藤雄一、井上健
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 新たな超早産児の虚血性脳傷害モデルマウスを用いた解析(続報)2011
- Author(s)
  出口貴美子、久保健一郎、仲島一範、井上健
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜、パシフィコ横浜
- Year and Date
  2011-05-28
- Data Source
  KAKENHI-PROJECT-21591425
[Presentation] Pelizaeus-Merzbacherlike- disease におけるGJC2プロモーター変異の分子病態解析2011
- Author(s)
  後藤玲央、小坂仁、新保裕子、後藤雄一、井上健
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 小胞体ストレスを標的としたPelizaeus-Merzbacher病に対する治療薬の確立2011
- Author(s)
  守村敏史、沼田由里佳、有馬恵里子、後藤雄一、井上健
- Organizer
  第33回日本神経科学大会
- Place of Presentation
  横浜(一般)
- Year and Date
  2011-09-11
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 新たな超早産児の虚血性脳傷害モデルマウスを用いた解析(続報)2011
- Author(s)
  出口貴美子、久保健一郎、仲島一範、井上健
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜、パシフィコ横浜
- Year and Date
  2011-05-28
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] A comprehensive nation-wide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011
- Author(s)
  Inoue K, Numata Y, Ohkubo T, Arima E, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H.
- Organizer
  12^<th> International Congress of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成2011
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至,小坂仁
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜
- Year and Date
  2011-05-26
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] A comprehensive nation-wide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011
- Author(s)
  Inoue K 　他
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  Montreal Convention Centre, Montreal, Canada
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成2011
- Author(s)
  井上健,岩城明子,黒澤健司,高梨潤一,出口貴美子,山本俊至,小坂仁
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜
- Year and Date
  2011-05-26
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] A comprehensive nation-wide epidemiological survey for Pelizaeus- Merzbacher disease and associated disorders in Japan2011
- Author(s)
  Inoue K, Numata Y, Ohkubo T, Arima E, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] フレームシフト変異によるPLP1mRNA の不安定化:軽症型 Pelizaeus-Merzbacher 病の分子病態2011
- Author(s)
  沼田有里佳、守村敏史、畠山英之、横田睦美、後藤雄一、涌澤圭介、植松貢、大沼晃、井上健
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 小胞体ストレスを標的とした Pelizaeus-Merzbacher 病に対する治療薬の確立2011
- Author(s)
  守村敏史、沼田由里佳、有馬恵里子、後藤雄一、井上健
- Organizer
  第３４回日本神経科学大会
- Place of Presentation
  パシフィコ横浜（横浜市）
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011
- Author(s)
  井上　健　他
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉、幕張メッセ
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] A comprehensive nation-wide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011
- Author(s)
  Inoue K, et al
- Organizer
  12^<th> International Congress of Human Genetics
- Place of Presentation
  Montreal Convention Centre, Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 小胞体ストレスを標的としたPelizaeus-Merzbacher病に対する治療薬の確立2011
- Author(s)
  守村敏史, 沼田由里佳, 有馬恵里子, 後藤雄一, 井上健
- Organizer
  第34回日本神経科学大会
- Place of Presentation
  横浜
- Year and Date
  2011-09-15
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] フレームシフト変異によるPLP1mRNAの不安定化：軽症型Pelizaeus-Merzbacher病の分子病態2011
- Author(s)
  沼田　有里佳、守村　敏史、畠山　英之、横田　睦美、後藤　雄一、涌澤圭介、植松　貢、大沼　晃、井上　健
- Organizer
  第５６回人類遺伝学会
- Place of Presentation
  幕張メッセ（千葉市）
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] フレームシフト変異によるPLP1mRNAの不安定化:軽症型Pelizaeus-Merzbacher病の分子病態2011
- Author(s)
  沼田有里佳、守村敏史、畠山英之、横田睦美、後藤雄一、涌澤圭介、植松貢、大沼晃、井上健
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  千葉(一般)
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-23580417
[Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011
- Author(s)
  井上健、岩城明子、黒澤健司、高梨潤一、出口貴美子、山本俊至、小坂仁
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 全国実態調査による先天性大脳白質形成不全症の疫学的研究2011
- Author(s)
  沼田有里佳、岩城明子、小坂仁、黒澤健司、高梨潤一、山本俊至、出口貴美子、井上健
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜
- Year and Date
  2011-05-28
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成2011
- Author(s)
  井上健, 他
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜、パシフィコ横浜
- Year and Date
  2011-05-26
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011
- Author(s)
  井上健、岩城明子、黒澤健司、高梨潤一、出口貴美子、山本俊至、小坂仁
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] A SOX10 binding site mutation in GJC2 promoter causes Pelizaeus-Merzbacher-like disease2011
- Author(s)
  Osaka H, Nezu A, Saitsu H, Kurosawa K, Matsumoto N, Inoue K
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜
- Year and Date
  2011-05-26
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011
- Author(s)
  井上健, 他
- Organizer
  第56回日本人類遺伝学会総会
- Place of Presentation
  千葉、幕張メッセ
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] A SOX10 binding site mutation in GJC2 promoter causes Pelizaeus-Merzbacher-like disease2011
- Author(s)
  Osaka H, Nezu A, Saitsu H, Kurosawa K, Matsumoto N, Inoue K.
- Organizer
  第53回日本小児神経学会
- Place of Presentation
  横浜
- Year and Date
  2011-05-26
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Sox10 BAC transgenic mouse modeling a complex neurocristopathy, PCWH2010
- Author(s)
  K. Inoue, N. Aoyagi-Inoue, Y. Itoh, Y. Inoue Y. Matsuda, M. Inagaki, T. Inoue, Y. Goto, S. Kohsaka, C. Akazawa
- Organizer
  60^<th> Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC, USA
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Abnormal neuronal migration with ischemic brain injuries may cause cognitive dysfunction in extremely preterm infants.2010
- Author(s)
  K Deguchi, K Kubo, DL Armstrong, K Nakajima, K Inoue.
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril Convention Centre, Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21591425
[Presentation] Sox10 BAC transgenic mouse modeling a complex neurocristopathy, PCWH2010
- Author(s)
  Inoue K, Aoyagi-Inoue N, Itoh Y, Inoue Y, Matsuda Y, Inagaki M, Inoue T, Goto Y, Kohsaka S, Akazawa C
- Organizer
  60^<th> Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Washington Convention Center, Washington DC, USA
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Abnormal neuronal migration with ischemic brain injuries may cause cognitive dysfunction in extremely preterm infants2010
- Author(s)
  K Deguchi, K Kubo, DL Armstrong, K Nakajima, K Inoue
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21591425
[Presentation] Abnormal neuronal migration with ischemic brain injuries may cause cognitive dysfunction in extremely preterm infants2010
- Author(s)
  Deguchi K, Kubo K, Armstrong DL, Nakajima K, Inoue K
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril Convention Centre, Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Modeling a complex neurocristopathy, PCWH, in a Sox10 BAC transgenic mouse2010
- Author(s)
  Inoue K, Aoyagi-Inoue N, Itoh Y, Inoue Y, Matsuda Y, Inagaki M, Inoue T, Goto Y, Kohsaka S, Akazawa C
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril Convention Centre, Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 新たな超早産児の虚血性脳障害のモデルマウスの解析:神経前駆細胞の移動障害2010
- Author(s)
  出口貴美子、久保健一郎、仲嶋一範、井上健
- Organizer
  第55回日本未熟児新生児学会
- Place of Presentation
  神戸コンベンションセンター、神戸
- Year and Date
  2010-10-10
- Data Source
  KAKENHI-PROJECT-21591425
[Presentation] 変異型Sox10BACトランスジェニックマウスによる複合型神経堤症候群PCWHのモデル動物の作成2010
- Author(s)
  伊藤亨子、井上直子、井上由紀子、松田芳樹、稲垣真澄、高坂新一、後藤雄一、井上高良、赤澤智宏、井上健
- Organizer
  第55回日本人類遺伝学会総会
- Place of Presentation
  大宮ソニックシティ、大宮
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Modeling a complex neurocristopathy, PCWH, in a Sox10 BAC transgenic mouse2010
- Author(s)
  K Inoue, N Aoyagi-Inoue, Y Itoh, Y Inoue, Y Matsuda, M Inagaki, T Inoue, Y Goto, S Kohsaka, C Akazawa
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 周産期脳障害による高次脳機能障害のマウスモデルの開発2010
- Author(s)
  出口貴美子、久保健一郎、仲嶋一範、井上健
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡国際会議場、福岡
- Data Source
  KAKENHI-PROJECT-21591425
[Presentation] Abnormal neuronal migration with ischemic brain injuries may cause cognitive dysfunction in extremely preterm infants2010
- Author(s)
  K Deguchi, K Kubo, DL Armstrong, K Nakajima, K Inoue
- Organizer
  18th Biennial Meeting of the International Society for Development Neuroscience
- Place of Presentation
  Estoril, Portugal
- Year and Date
  2010-06-08
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 変異型Sox10BACトランスジェニックマウスによる複合型神経堤症候群PCWHのモデル動物の作成2010
- Author(s)
  伊藤亨子、井上直子、井上由紀子、松田芳樹、稲垣真澄、高坂新一、後藤雄一、井上高良、赤澤智宏、井上健
- Organizer
  第55回日本人類遺伝学会総会
- Place of Presentation
  大宮
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Curcumin partially mitigated the phenotype of Pelizaeus-Merzbacher disease caused by PLP1 point mutation in mouse2009
- Author(s)
  Inoue K, et al.
- Organizer
  59^<th> Annual meeting of American Society of Human Genetics
- Place of Presentation
  米国ハワイHawaii Convention Center
- Year and Date
  2009-10-23
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Curcumin partially mitigated the phenotype of Pelizaeus-Merzbacher disease caused by PLP1 point mutations in mouse2009
- Author(s)
  K. Inoue, L-H. Yu, T. Morimura, H. Iwashita, R. Yamamoto, K. Deguchi, B. Antalfy, N. Inoue, H. Osaka, M. Itoh, Y. Goto
- Organizer
  59^<th> Annual meeting of the American Society of Human Genetics
- Place of Presentation
  Honolulu, HI
- Year and Date
  2009-10-23
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 変異Sox10トランスジェニックマウスを用いた複合型神経堤症候群PCWHの病態解析2009
- Author(s)
  井上直子、井上由紀子、松田芳樹、稲垣真澄、井上高良、後藤雄一、高坂新一、井上健、赤澤智宏
- Organizer
  第34回日本神経科学大会
- Place of Presentation
  名古屋
- Year and Date
  2009-09-17
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] Pelizaeus-Merzbacher病の遺伝カウンセリング2009
- Author(s)
  西川智子、松浦公美、古旗美恵子、橋本啓典、古谷憲孝、小坂仁、井上健、黒澤健司
- Organizer
  第54回日本人類遺伝学会総会
- Place of Presentation
  品川
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 先天性大脳白質形成不全症の全国疫学調査および遺伝子解析研究の推進について2009
- Author(s)
  井上健、小坂仁、黒澤健司、高梨潤一、山本俊至、岩城明子
- Organizer
  第54回日本人類遺伝学会総会
- Place of Presentation
  品川
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 変異Sox10トランスジェニックマウスを用いた複合型神経堤症候群PCWHの病態解析2009
- Author(s)
  井上直子, 他
- Organizer
  第32回日本神経科学大会
- Place of Presentation
  名古屋名古屋国際会議場
- Year and Date
  2009-09-17
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] 先天性大脳白質形成不全症の全国疫学調査および遺伝子解析研究の推進について2009
- Author(s)
  井上健, 他
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京グランドプリンスホテル高輪
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21390103
[Presentation] J.R.Lupski.Translation of SOX103" untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.2007
- Author(s)
  K.Inoue, T.Ohyama, Y.Sakuragi, L-H Yu, R.Yamamoto, Y.Goto, M.Wegner
- Organizer
  57th Annual meeting of the American Society of Human Genetics.
- Place of Presentation
  San Diego,US
- Year and Date
  2007-10-25
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Pelizaeus-Merzbacher病の病態に基づく治療法開発の試み(共同演者)2007
- Author(s)
  井上健, 他
- Organizer
  第51回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18590967
[Presentation] Translation of SOX10 3' untranslated region causes a complex severeneurocristopathy by generation of a deleterious functional domain.2007
- Author(s)
  Inoue K, Ohyama T, Sakuragi Y, 他
- Organizer
  第57回米国人類遺伝学
- Place of Presentation
  米国・サンディエゴ
- Year and Date
  2007-10-25
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain2007
- Author(s)
  K. Inoue, et. al.
- Organizer
  57^<th> Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego,USA
- Year and Date
  2007-10-25
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Nousense medicated mRNA decay as a modifier of neurological disease traints and phenotypes.2007
- Author(s)
  Inoue K
- Organizer
  Neuro2007.
- Place of Presentation
  Yokohama,Japan.
- Year and Date
  2007-09-11
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Nonsense mediated mRNA decay as a modifier of neurological disease traits and phenotypes2007
- Author(s)
  K.Inoue
- Organizer
  Neuro2007
- Place of Presentation
  横浜
- Year and Date
  2007-09-11
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Nousense-medicated mRNA decay is not a major contributor to downregulate the Alu-containing splicing variants.2006
- Author(s)
  K.Inoue, K.Takano, Y.Goto.
- Organizer
  56th annual meeting of the American Society of Human Genetics.
- Place of Presentation
  New Orleans,US
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Nonsense-medicated mRNA decay is not a major contributor to downregulate the Alu-containing splicing variants2006
- Author(s)
  K. Inoue, et. al.
- Organizer
  56^<th> annual meeting of the American Society of Human Genetics
- Place of Presentation
  New Orleans, USA
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] PCWH-molecular mechanisms for SOX10 mutations2006
- Author(s)
  K. Inoue, et. al.
- Organizer
  16th Meeting of the European Neurological Society
- Place of Presentation
  Lausanne, Switzerland
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] A loss-of-function mutation in the FTSJI gene causes non-syndromic mental retardation in a Japanese family.2006
- Author(s)
  K.Takano, E.Nakagawa, K.Inoue, F.Kamada, S.Kure, Y.Goto
- Organizer
  56th Annual meeting of the American Society of Human Genetics.
- Place of Presentation
  New Orleans,US
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] J.R. Lupski.PCWH-molecular mechanisms for SOX10 mutations.2006
- Author(s)
  K.Inoue, M.Khajavi, T.Ohyama, C.Akizawa
- Organizer
  16th Meeting of the Eurpean Neurological Society.
- Place of Presentation
  Lausanne,Swiss.
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] J.R. Lupski.molecular mechanisms underlying human SOX10 mutations causing distinct neurocristopatthies.2006
- Author(s)
  K.Inoue, M.Khajavi, C.Akizawa, K.Deguchi
- Organizer
  16th Biennial Meeting of the International Society for Developmental Neuroscience.
- Place of Presentation
  Banff,Canada.
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Molecular mechanisms underlying human SOX10 mutations causing distinct neurocristopathies.2006
- Author(s)
  K. Inoue, et. al.
- Organizer
  16^<th> Biennial Meeting of the International Society for Developmental Neuroscience
- Place of Presentation
  Banff, Canada
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Nonsense mediated mRNA decay as a modifier of human disease traits and phenotypes2006
- Author(s)
  K.Inoue, et. al.
- Organizer
  20th IUBMB International Congress of Biochemistry and Molecular Biology
- Place of Presentation
  京都
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Lupski JR. Nonsence mediated mRNA decay as a modifier of human disease trains and phenotypes.2006
- Author(s)
  Inoue K, Khajavi M
- Organizer
  20th International Congrass of Biochemistry and Moleclular Biology.
- Place of Presentation
  Kyoto,Japan.
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] J.R. Lupski.ER retention and aggregation induced apoptosis associated with neuropathy causing MPZ truncating mutants are abrogated by curcumin treatment.2005
- Author(s)
  M.Khajavi, W.Wiszniewski, T.Ohyama, M.Inoue, G.Jackson Snipes
- Organizer
  55th annual meeting of the American Society of Human Genetics.
- Place of Presentation
  Salt Lake City,UT.
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] PCWH-a novel complex neurocristopathy caused by SOX10 mutations2005
- Author(s)
  K. Inoue, et. al.
- Organizer
  15th Meeting of the European Neurological Society
- Place of Presentation
  Vienna, Austria
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] J.R.Lupski. PCWH-a novel complex neurocristopathy caused by SOX10 mutations.2005
- Author(s)
  K.Inoue, M.Khajavi, T.Ohyama, M.Wegner
- Organizer
  15th Meeting of the Eurpean Neurological Society.
- Place of Presentation
  Vienna,Austria
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] PLP1点変異の新規分子病態を標的としたドラッグ・リポジショニングによるPelizaeus-Merzbacher病の治療法開発
- Author(s)
  井上　健、マンガリイ・プリアンティ、沼田有里佳、中村祥子、守村敏史、佐谷秀行、後藤雄一
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京（タワーホール船堀）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] The Brain expression pattern of Srrm4, the gene mutated in bronx waltzer mice, and its effect on GABAergic interneuron.
- Author(s)
  Shirakawa Y, Izumi H, Nakamura S, Inoue K, Goto Y, Inagaki M:
- Organizer
  The 37th Annual Meeting of the Japan Neuroscience Society,
- Place of Presentation
  Yokohama　パシフィコ横浜ホール
- Year and Date
  2014-09-11 – 2014-09-13
- Data Source
  KAKENHI-PROJECT-25461745
[Presentation] bronx waltzerマウス変異遺伝子Srrm4の脳内発現とGABAergic interneuronへの影響
- Author(s)
  白川由佳、泉仁美、中村祥子、井上健、後藤雄一、稲垣真澄
- Organizer
  第37回神経科学会大会
- Place of Presentation
  横浜（パシフィコ横浜）
- Year and Date
  2014-09-11 – 2014-09-13
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] 先天性大脳白質形成不全症：ゲノム解析から診断、治療への取り組み
- Author(s)
  井上　健　他
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Invited
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Treating Pelizaeus-Merzbacher disease with clinically applicable compounds, curumin and chloroquine: preclinical studies
- Author(s)
  Inoue K　他
- Organizer
  62nd Annual meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Abnormal neuronal migration with ischemic brain injury in extremely preterm infants underlies subsequent cognitive impairment.
- Author(s)
  K. Deguchi , K Kubo, K Nakajima K. Inoue.
- Organizer
  20th Biennial Meeting of the International Society for Developmental Neuroscience
- Place of Presentation
  Hilton Montreal Bonaventure, Montreal, Canada
- Year and Date
  2014-07-19 – 2014-07-24
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] 先天性大脳白質形成不全症の脳MRI画像データベース構築への取り組み
- Author(s)
  井上　健、高梨潤一、小坂　仁、佐藤典子
- Organizer
  第55回日本小児神経学会総会
- Place of Presentation
  大分（大分オアシスタワーホテル）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Abnormal neuronal migration with ischemic brain injury in extremely preterm infants underlies subsequent cognitive impairment
- Author(s)
  Kimiko Deguchi, Ken-ichiro Kubo, Kazunori Nakajima, and Ken Inoue
- Organizer
  Joint Meeting of the 20th Biennial Meeting of the International Society for Developmental Neuroscience (ISDN) and the 5th Annual NeuroDevNet Brain Development Conference
- Place of Presentation
  Hilton Montreal Bonaventure, Montreal, Canada
- Year and Date
  2014-07-19 – 2014-07-24
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Epidemiological and molecular diagnostic landscape of Pelizaeus-Merzbacher disease and associated disorders in Japan: a nation-wide survey.
- Author(s)
  Inoue K　他
- Organizer
  22nd Meeting of the European Neurological Society
- Place of Presentation
  Prague, Czech
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成
- Author(s)
  井上　健　他
- Organizer
  第５３回日本小児神経学会
- Place of Presentation
  横浜、パシフィコ横浜
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Analyses of the effects of embryonic ischemia on brain development (胎児期の虚血が脳の構造と機能に及ぼす影響)
- Author(s)
  Ken-ichiro Kubo, Kimiko Deguchi, Taku Nagai, Michihiko Aramaki, Kiyofumi Yamada, Ken Inoe, Kazunori Nakajima
- Organizer
  第92回日本生理学会大会第120回日本解剖学会総会・全国学術集会合同大会
- Place of Presentation
  神戸国際会議場・展示場、神戸（兵庫県）
- Year and Date
  2015-03-21 – 2015-03-23
- Invited
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] PLP1 missense mutations impair subcellular organelle dynamics that impact clinical severity of Pelizaeus-Merzbacher disease.
- Author(s)
  Inoue K, Numata Y, Morimura T, Nakamura S, Goto Y
- Organizer
  20th Biennial Meeting of the International Society for Developmental Neuroscience
- Place of Presentation
  Hilton Montreal Bonaventure, Montreal, Canada
- Year and Date
  2014-07-19 – 2014-07-24
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] 超早産児の高次脳機能障害に結びつくメカニズムの解明；虚血性脳傷害モデルマウスを用いた解析【第4報】
- Author(s)
  出口貴美子、久保健一郎、永井拓、Shan Wei、山田清文、仲嶋一範、井上健
- Organizer
  第56回日本小児神経学会学術集会
- Place of Presentation
  アクトシティ浜松、浜松（静岡県）
- Year and Date
  2014-05-29 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] Pelizaeus-Merzbacher病の細胞内分子病態：小胞体ストレスとシャペロンダイナミクス
- Author(s)
  沼田有里佳、呉繁夫、後藤雄一、井上健
- Organizer
  第55回日本小児神経学会総会
- Place of Presentation
  大分（大分オアシスタワーホテル）
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Pelizaeus-Merzbacher-like病：GJC2遺伝子の新規プロモーター変異とその分子病態
- Author(s)
  井上　健、後藤玲央、Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, 後藤雄一, Caldovic L, Hobson GM, Vanderver A.
- Organizer
  第56回日本小児神経学会総会
- Place of Presentation
  浜松（アクトシティ浜松）
- Year and Date
  2014-05-29 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] dditive toxicity of SOX10 mutation underlies a complex neurological phenotype of PCWH
- Author(s)
  Inoue K, Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Ohkubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T.
- Organizer
  The 64th American Society of Human Genetics Annual Meeting
- Place of Presentation
  San Diego Convention Center, San Diego, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25670485
[Presentation] Abnormal brain cytoarchitecture as one of the micro-endophenotypes of neuropsychiatric disorders (精神疾患のマイクロエンドフェノタイプとしての微細な脳組織構築の異常)
- Author(s)
  Ken-ichiro Kubo, Kazuhiro Ishii, Toshihiro Endo, Seico Benner, Taku Nagai, Wei Shan, Kimiko Deguchi, Ken Inoue, Kiyofumi Yamada, Chiharu Tohyama, Masaki Kakeyama, and Kazunori Nakajima
- Organizer
  第36回日本生物学的精神医学会・第57回日本神経化学会大会
- Place of Presentation
  奈良県文化会館・奈良県新公会堂、奈良（奈良県）
- Year and Date
  2014-09-29 – 2014-10-01
- Invited
- Data Source
  KAKENHI-PROJECT-24591615
[Presentation] 複合型神経堤症候群PCWH：Tgマウスによる疾患モデルの作成
- Author(s)
  井上　健　他
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  ロイトン札幌、札幌
- Data Source
  KAKENHI-PROJECT-23659531
[Presentation] Pelizaeus-Merzbacher病の治療法開発への試み
- Author(s)
  井上　健　他
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル、東京
- Data Source
  KAKENHI-PROJECT-23659531

1. DEGUCHI Kimiko (50227542)

# of Collaborated Projects: 6 results

# of Collaborated Products: 44 results
2. KUBO Kenichirou (20348791)

# of Collaborated Projects: 3 results

# of Collaborated Products: 25 results
3. OSAKA Hitoshi (90426320)

# of Collaborated Projects: 3 results

# of Collaborated Products: 11 results
4. LI Heng (70621994)

# of Collaborated Projects: 2 results

# of Collaborated Products: 11 results
5. INOUE Takayoshi (20370984)

# of Collaborated Projects: 1 results

# of Collaborated Products: 38 results
6. MORIMURA Toshifumi (20333338)

# of Collaborated Projects: 1 results

# of Collaborated Products: 21 results
7. TAKANO Kyoko (70392420)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
8. Inagaki Masumi (70203198)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. KAGA Makiko (20142250)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. OSAKABE Hitomi (30625520)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. OHTA Hidenobu (80422103)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. SUGIURA Yuka (50750402)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
13. 高嶋幸男 (70038743)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
14. KOUGA takeshi

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
15. ISHII Kazuhiro

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
16. KOIZUME Shiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. KOSUGI Shunichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
18. ITOH Norimichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. INOUE Yukiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 宮城洋平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 高梨潤一

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
22. 永井拓

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 赤松和土

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 漆谷真

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 星野幹雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

INOUE KEN 井上 健

INOUE Ken 井上 健

Research Projects

Research Products

Co-Researchers

Innovative AAV gene therapy by combining cell conversion and artificial miRNAPrincipal Investigator

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A new AAV delivery method for gene therapy of hypomyelinaitng leukodystrophyPrincipal Investigator

Principal Investigator

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Review Section

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Gene therapy for CMT1A using AAV harboring artificial microRNAsPrincipal Investigator

Principal Investigator

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Review Section

Research Institution

Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher diseasePrincipal Investigator

Principal Investigator

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Drug screening for childhood genetic disease by visualizing proteins.

Principal Investigator

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Investigation of the mechanism of ischemic brain injury in extremely preterm infants

Principal Investigator

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Treatment of congenital hypomyelinating leukodystrophy using the gene suppression effect of morpholinoPrincipal Investigator

Principal Investigator

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Research Institution

Identification of anxiety induced gene and therapeutic approach

Principal Investigator

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Establishment and analysis of a new mouse model of ischemic brain injuries in extremely preterm infants

Principal Investigator

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Clinical application of autophagy-inducing factors from food supplements

Principal Investigator

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Research Institution

Study on molecular mechanism underlying genomic susceptibility to congenital hypomyelinating leukodystrophyPrincipal Investigator

Principal Investigator

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Research Institution

Molecular basis for the complex neurocristopathy PCWH and mechanisms underlying SOX10 allelic affinityPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathological study of higher brain dysfunction as a neurological outcome in extremely preterm infants

Principal Investigator

Project Period (FY)

INOUE KEN 井上健

INOUE Ken 井上健

[Book] 先天性大脳白質形成不全症　「先天代謝異常症（下）―病因・病態研究，診断・治療の進歩―」2012

[Book] 先天性大脳白質形成不全症、新領域別症候群シリーズNo.20「先天代謝異常症候群(下)―病因・病態研究,診断・治療の進歩―」2012