MITSUI Jun 三井純

Researcher Number	70579862
Other IDs	https://orcid.org/0000-0001-7425-4765
Affiliation (Current)	2025: 東京大学, 医学部附属病院, 特任准教授
Affiliation (based on the past Project Information) *help	2017 – 2025: 東京大学, 医学部附属病院, 特任准教授 2012 – 2016: 東京大学, 医学部附属病院, 助教 2011: 東京大学, 医学部附属病院, 特任研究員 2010: The University of Tokyo, 医学部附属病院, 特任助教
Review Section/Research Field	Principal Investigator Neurology / Basic Section 52020:Neurology-related / Human genetics Except Principal Investigator Basic Section 56010:Neurosurgery-related / Basic Section 48040:Medical biochemistry-related / Neurology
Keywords	Principal Investigator 多系統萎縮症 / 神経変性疾患 / 関連解析 / コエンザイムQ10 / バイオマーカー / 次世代シーケンサー / ゲノム / 酸化的ストレス / 評価尺度 / レジストリー … More / コエンザイム!Q10 / iPS細胞 / 電子伝達系 / 酸化ストレス / 分子遺伝学的研究 / 常染色体劣性遺伝性 / エクソーム解析 / 連鎖解析 / 遺伝学 / 疾患感受性遺伝子 / パーキンソン病 / 神経内科学 … More Except Principal Investigator hemichannel / GJA4 / 動物モデル / digital droplet PCR / gap junction / ロングリードシーケンス / ロングリードシーケンスア / 伸長リピート配列 / アルツハイマー病 / 神経変性疾患 / ロングリードシーケンス解析 / 伸長リピート解析 / タンパク質構造解析 / 分子標的治療 / モデル動物 / 血管内皮細胞 / 血管奇形 / knock-in mouse / endothelial dysfunction / somatic mutation / connexin 37 / venous malformation / orbital lesion / ゲノムアノテーション / メタゲノム / ゲノム多型 / ゲノムアッセンブル / スーパーコンピューター / メタゲノム解析 / 1細胞解析 / RNA-Seq / エピゲノム / リシーケンシング / 新規ゲノム配列決定 / 次世代DNAシーケンサー / ミトコンドリア機能 / shojitsuji-tky / 神経分子病態学 / ミトコンドリア / coenzyme Q10 / フラックスアナライザー / COQ2 / 多系統萎縮症 Less

Elucidation of novel genetic factors in multiple system atrophy on the basis of patient registry and whole genome analysisPrincipal Investigator
- Principal Investigator
  
  三井純
- Project Period (FY)
  2025 – 2029
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  The University of Tokyo
Development of Novel Therapeutic Strategies for Cerebral Cavernous Malformations Based on Functional Analysis of the GJA4 Gene
- Principal Investigator
  
  齊藤延人
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 56010:Neurosurgery-related
- Research Institution
  The University of Tokyo
Elucidation of dsease mechanisms of neurodegenerative diseases based on comprehensive analysis of repeat expansions in non-coding regions
- Principal Investigator
  
  Tsuji Shoji
- Project Period (FY)
  2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  International University of Health and Welfare
Analysis of novel vascular malformation causative gene
- Principal Investigator
  
  Saito Nobuhito
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 56010:Neurosurgery-related
- Research Institution
  The University of Tokyo
Elucidation of mplecular mechanism of multiple system atrophy employing a patient registry systemPrincipal Investigator
- Principal Investigator
  
  Mitsui Jun
- Project Period (FY)
  2018 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  The University of Tokyo
Platform for Advanced Genome Science
- Principal Investigator
  
  KOHARA Yuji
- Project Period (FY)
  2016 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas ― Platforms for Advanced Technologies and Research Resources
- Research Institution
  National Institute of Genetics
The search for a biomarker for multiple system atrophyPrincipal Investigator
- Principal Investigator
  
  Mitsui Jun
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
Elucidation of molecular mechanisms and development of surrogate markers for multiple system atrophy caused by COQ2 mutations
- Principal Investigator
  
  Tsuji Shoji
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
A genetic study of patients with multiple system atrophy from consanguineous familiesPrincipal Investigator
- Principal Investigator
  
  MITSUI Jun
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
Elucidation of genetic factors for Parkinson disease employing next-generation sequencerPrincipal Investigator
- Principal Investigator
  
  MITSUI Jun
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  The University of Tokyo
Identifying susceptible genes for Parkinson disease employing next-generation sequencerPrincipal Investigator
- Principal Investigator
  
  MITSUI Jun
- Project Period (FY)
  2010
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo

[Book] 最新精神・神経遺伝医学研究と遺伝カウンセリング2017
- Author(s)
  三井　純
- Total Pages
  308
- Publisher
  メディカルドゥ
- ISBN
  9784944157655
- Data Source
  KAKENHI-PROJECT-15K09334
[Book] 運動失調のみかた、考えかた　―小脳と脊髄小脳変性症―2017
- Author(s)
  三井　純
- Total Pages
  358
- Publisher
  中外医学社
- ISBN
  9784498228900
- Data Source
  KAKENHI-PROJECT-15K09334
[Journal Article] Frequency of FGF14 Intronic GAA Repeat Expansion in Patients with Multiple System Atrophy and Undiagnosed Ataxia in the Japanese Population.2025
- Author(s)
  Kakumoto T, Orimo K, Matsukawa T, Mitsui J, Ishihara T, Onodera O, Suzuki Y, Morishita S, Japan Multiple System Atrophy Registry Consortium, Toda T, Tsuji S.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 33 Issue: 3 Pages: 325-333
- DOI
  10.1038/s41431-024-01743-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K24085, KAKENHI-PROJECT-22K07413, KAKENHI-PROJECT-23K27514
[Journal Article] <i>RNF213</i> p.Arg4810Lys (c.14429G&gt;A) is associated with extracranial arterial stenosis2024
- Author(s)
  Shimada D#, Miyawaki S#, Nakanishi K, Jono T, Maruoka H, Kawai T, Harada Y, Kono T, Komatsubara K, Nakauchi J, Matsumoto Y, Okada K, Dofuku S, Hongo H, Mitsui J, Teranishi Y, Ohara K, Ishigami D, Sakai Y, Kawano H, Noguchi A, Nakatomi H, Saito N, Hirano T, Shiokawa Y.
- Journal Title
  
  Brain Communications
  
  Volume: 7(1) Issue: 1
- DOI
  10.1093/braincomms/fcaf049
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21H03041
[Journal Article] Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration2023
- Author(s)
  Teranishi Y, Miyawaki S, Nakatochi M, Okano A, Ikemura M, Komura D, Katoh H, Mitsui J, Morishita S, Ushiku T, Ishikawa S, Nakatomi H, Saito N.
- Journal Title
  
  Acta Neuropathologica Communications
  
  Volume: 11(1) Issue: 1 Pages: 156-156
- DOI
  10.1186/s40478-023-01645-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22H04923, KAKENHI-PROJECT-22H04925, KAKENHI-PROJECT-21H03041, KAKENHI-PROJECT-23K27709
[Journal Article] Clinical significance of NF2 alteration in grade I meningiomas revisited; prognostic impact integrated with extent of resection, tumour location, and Ki-67 index2022
- Author(s)
  Teranishi Y, Okano A, Miyawaki S, Ohara K, Ishigami D, Hongo H, Dofuku S, Takami H, Mitsui J, Ikemura M, Komura D, Katoh H, Ushiku T, Ishikawa S, Shin M, Nakatomi H, Saito N.
- Journal Title
  
  Acta Neuropathol Commun
  
  Volume: 10(1):76 Issue: 1 Pages: 76-76
- DOI
  10.1186/s40478-022-01377-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-21H03041
[Journal Article] NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas2022
- Author(s)
  Sakai Y, Miyawaki S, Teranishi Y, Okano A, Ohara K, Hongo H, Ishigami D, Shimada D, Mitsui J, Nakatomi H, Saito N.
- Journal Title
  
  Cancers (Basel)
  
  Volume: 14(13):3183 Issue: 13 Pages: 3183-3183
- DOI
  10.3390/cancers14133183
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-21H03041
[Journal Article] Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing2022
- Author(s)
  Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K
- Journal Title
  
  Clinical Genetics
  
  Volume: 101 Issue: 3 Pages: 335-345
- DOI
  10.1111/cge.14103
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07864, KAKENHI-PROJECT-20K08270, KAKENHI-PROJECT-16H06279
[Journal Article] Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis2022
- Author(s)
  Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Iago Pinal-Fernandez, Andrew L Mammen, Thomas E Lloyd , Shoji Tsuji, Jun Shimizu, Tatsushi Toda, Jun Goto
- Journal Title
  
  Ann Neurol.
  
  Volume: 91 Issue: 3 Pages: 317-328
- DOI
  10.1002/ana.26304
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07956, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20H00526
[Journal Article] Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing2022
- Author(s)
  Yu Teranishi、Satoru Miyawaki、Hirofumi Nakatomi、Kenta Ohara、Hiroki Hongo、Shogo Dofuku、Atsushi Okano、Shunsaku Takayanagi、Takahiro Ota、Jun Yoshimura、Wei Qu、Jun Mitsui、Shinichi Morishita、Shoji Tsuji、Nobuhito Saito
- Journal Title
  
  Scientific Reports
  
  Volume: 12(1) Issue: 1 Pages: 9543-9543
- DOI
  10.1038/s41598-022-13580-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22H04925, KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-21H03041
[Journal Article] Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale2021
- Author(s)
  Chikada Ayaka、Mitsui Jun、Matsukawa Takashi、Ishiura Hiroyuki、Toda Tatsushi、Ogata Katsuhisa、Goto Jun、Wenning Gregor K.、Tsuji Shoji
- Journal Title
  
  Neurology and Clinical Neuroscience
  
  Volume: 9 Issue: 2 Pages: 171-180
- DOI
  10.1111/ncn3.12477
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population2021
- Author(s)
  Porto Kristine Joyce、Hirano Makito、Mitsui Jun、Chikada Ayaka、Matsukawa Takashi、Ishiura Hiroyuki、Toda Tatsushi、Kusunoki Susumu、Tsuji Shoji
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 429 Pages: 117623-117623
- DOI
  10.1016/j.jns.2021.117623
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.2021
- Author(s)
  Okano A, Miyawaki S, Hongo H, Dofuku S, Teranishi Y, Mitsui J, Tanaka M, Shin M, Nakatomi H, Saito N.
- Journal Title
  
  Sci Rep.
  
  Volume: 11(1) Issue: 1 Pages: 6987-6987
- DOI
  10.1038/s41598-021-86298-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-21H03041
[Journal Article] Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population2021
- Author(s)
  Almansour Asem、Ishiura Hiroyuki、Mitsui Jun、Matsukawa Takashi、Matsukawa Miho Kawabe、Shimizu Hideaki、Sugiyama Atsuhiko、Toda Tatsushi、Tsuji Shoji
- Journal Title
  
  The Cerebellum
  
  Volume: NA Issue: 6 Pages: 954-962
- DOI
  10.1007/s12311-021-01329-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H02739, KAKENHI-PROJECT-20H03588
[Journal Article] Multiple system atrophy variant with severe hippocampal pathology2021
- Author(s)
  Ando Takashi、Riku Yuichi、Akagi Akio、et al.
- Journal Title
  
  Brain Pathology
  
  Volume: 32 Issue: 1
- DOI
  10.1111/bpa.13002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16586, KAKENHI-PROJECT-18H02739
[Journal Article] Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population2020
- Author(s)
  Naruse Hiroya、Ishiura Hiroyuki、Mitsui Jun、Takahashi Yuji、Matsukawa Takashi、Yoshimura Jun、Doi Koichiro、Morishita Shinichi、Goto Jun、Toda Tatsushi、Tsuji Shoji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 3 Pages: 237-241
- DOI
  10.1038/s10038-020-00830-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19J01720, KAKENHI-PROJECT-16H06279
[Journal Article] Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis2020
- Author(s)
  Naruse Hiroya、Ishiura Hiroyuki、Mitsui Jun、Takahashi Yuji、Matsukawa Takashi、Sakuishi Kaori、Nakamagoe Kiyotaka、Miyake Zenshi、Tamaoka Akira、Goto Jun、Yoshimura Jun、Doi Koichiro、Morishita Shinichi、Toda Tatsushi、Tsuji Shoji
- Journal Title
  
  neurogenetics
  
  Volume: 22 Issue: 1 Pages: 11-17
- DOI
  10.1007/s10048-020-00626-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19J01720, KAKENHI-PROJECT-16H06279
[Journal Article] Comprehensive Investigation of RNF213 Nonsynonymous Variants Associated with Intracranial Artery Stenosis2020
- Author(s)
  Hongo H, Miyawaki S, Imai H, Shimizu M, Yagi S, Mitsui J, Ishiura H, Yoshimura J, Doi K, Qu W, Teranishi Y, Okano A, Ono H, Nakatomi H, Shimizu T, Morishita S, Tsuji S, and Saito N
- Journal Title
  
  Scientific reports
  
  Volume: 10(1) Issue: 1 Pages: 11942-11942
- DOI
  10.1038/s41598-020-68888-1
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K09473, KAKENHI-PROJECT-17H04301, KAKENHI-PROJECT-19J12355, KAKENHI-PROJECT-16H06279
[Journal Article] CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.2020
- Author(s)
  Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
- Journal Title
  
  Eur J Med Genet.
  
  Volume: 63 Issue: 1 Pages: 103610-103610
- DOI
  10.1016/j.ejmg.2018.12.015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H06279
[Journal Article] Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.2020
- Author(s)
  Teranishi Y.、Miyawaki S.、Hongo H.、Dofuku S.、Okano A.、Takayanagi S.、Ota T.、Yoshimura J.、Qu W.、Mitsui J.、Nakatomi H.、Morishita S.、Tsuji S.、Saito N.
- Journal Title
  
  J Med Genet
  
  Volume: なし Issue: 10 Pages: 701-711
- DOI
  10.1136/jmedgenet-2020-106973
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04301, KAKENHI-PROJECT-19K24023, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20K17954, KAKENHI-PROJECT-19K09473
[Journal Article] レジストリー研究の展望：MSA2020
- Author(s)
  三井　純
- Journal Title
  
  脳神経内科
  
  Volume: 92(3) Pages: 276-279
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] 睡眠と疾患：多系統萎縮症2019
- Author(s)
  三井　純
- Journal Title
  
  CLINICAL NEUROSCIENCE
  
  Volume: 37(7) Pages: 842-845
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease2019
- Author(s)
  Ishiura Hiroyuki、Shibata Shota、Yoshimura Jun、Suzuki YutaMano Tatsuo、Iwata Atsushi、Toda Tatsushi、Morishita Shinichi、Tsuji Shoji、et al
- Journal Title
  
  Nature Genetics
  
  Volume: 51 Issue: 8 Pages: 1222-1232
- DOI
  10.1038/s41588-019-0458-z
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17027, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19H00597
[Journal Article] Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.2019
- Author(s)
  Kajii TS, Oka A, Saito F, Mitsui J, Iida J.
- Journal Title
  
  Bone.
  
  Volume: 122 Pages: 193-198
- DOI
  10.1016/j.bone.2019.03.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19K08802, KAKENHI-PROJECT-17K11949
[Journal Article] ユビキノールによる治験2019
- Author(s)
  三井　純，近田　彩香，辻　省次
- Journal Title
  
  CLINICAL NEUROSCIENCE
  
  Volume: 37(9) Pages: 1135-1137
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] MSA-PとMSA-Cは同じ疾患か2019
- Author(s)
  三井　純
- Journal Title
  
  MDSJ letters
  
  Volume: 12(2) Pages: 1-3
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy2019
- Author(s)
  Yasuda Tsutomu、Matsukawa Takashi、Mitsui Jun、Tsuji Shoji
- Journal Title
  
  neurogenetics
  
  Volume: 20 Issue: 1 Pages: 51-52
- DOI
  10.1007/s10048-018-0563-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H02739
[Journal Article] The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy2018
- Author(s)
  Nakamoto Fumiko Kusunoki、Okamoto Satoshi、Mitsui Jun、Sone Takefumi、Ishikawa Mitsuru、Yamamoto Yorihiro、Kanegae Yumi、Nakatake Yuhki、Imaizumi Kent、Ishiura Hiroyuki、Tsuji Shoji、Okano Hideyuki
- Journal Title
  
  Scientific Reports
  
  Volume: 8 Issue: 1 Pages: 14215-14215
- DOI
  10.1038/s41598-018-32573-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-26117007, KAKENHI-PROJECT-18H02739
[Journal Article] Lanthanide-Dependent Regulation of Methylotrophy in Methylobacterium aquaticum Strain 22A2018
- Author(s)
  Masuda Sachiko、Suzuki Yutaka、Fujitani Yoshiko、Mitsui Ryoji、Nakagawa Tomoyuki、Shintani Masaki、Tani Akio
- Journal Title
  
  mSphere
  
  Volume: 3 Issue: 1
- DOI
  10.1128/msphere.00462-17
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K07738, KAKENHI-PROJECT-15H04476, KAKENHI-PROJECT-18H02129, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-17H03949
[Journal Article] Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome2018
- Author(s)
  Akahira-Azuma Moe、Tsurusaki Yoshinori、Enomoto Yumi、Mitsui Jun、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 18011-18011
- DOI
  10.1038/hgv.2018.11
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H06279
[Journal Article] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura Hiroyuki、Doi Koichiro、Mitsui Jun、Yoshimura Jun、Matsukawa Miho Kawabe、Takahashi Yuji、Date Hidetoshi、Matsukawa Takashi、Shimizu Jun、Koh Kishin、Takiyama Yoshihisa、Goto Jun、Morishita Shinichi、Tsuji Shoji
- Journal Title
  
  Nature Genetics
  
  Volume: 50 Issue: 4 Pages: 581-590
- DOI
  10.1038/s41588-018-0067-2
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-PROJECT-15H06161, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05874, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16K09670, KAKENHI-PROJECT-16K14571, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-17K07255, KAKENHI-PROJECT-17K09798, KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-18K07542, KAKENHI-PROJECT-16K09681
[Journal Article] Three-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy with compound heterozygous COQ2 mutations.2017
- Author(s)
  Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige S, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y and Tsuji S.
- Journal Title
  
  Cerebellum
  
  Volume: - Issue: 3 Pages: 1-9
- DOI
  10.1007/s12311-017-0846-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26253054, KAKENHI-PROJECT-26350915, KAKENHI-PROJECT-17H06159, KAKENHI-PROJECT-15H04270, KAKENHI-PROJECT-15K09334
[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento2017
- Author(s)
  Tsurusaki Yoshinori、Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Mitsui Jun、Aida Noriko、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 4 Issue: 1 Pages: 17019-17019
- DOI
  10.1038/hgv.2017.19
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H06279
[Journal Article] Induced pluripotent stem cell-derived neuronal cells from patients with multiple system atrophy as a model for investigating the pathogenesis linked to coenzyme Q10 insufficiency2017
- Author(s)
  Nakamoto F, Okamoto S, Mitsui J, Ishiura H, Tsuji S, Okano H
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 381, Suppl Pages: 889-890
- DOI
  10.1016/j.jns.2017.08.2504
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09334
[Journal Article] A novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.2017
- Author(s)
  Yasuo Harigaya, Takashi Matsukawa, Yukio Fujita, Kazuyuki Mizushima,Hiroyuki Ishiura, Jun Mitsui, Shinichi Morishita, Mikio Shoji, Yoshio Ikeda, and Shoji Tsuji.
- Journal Title
  
  Neurol Genet
  
  Volume: 3 Issue: 2
- DOI
  10.1212/nxg.0000000000000138
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09306, KAKENHI-PROJECT-16K09665, KAKENHI-PROJECT-16H06279
[Journal Article] AgIn: measuring the landscape of CpG methylation of individual repetitive elements2016
- Author(s)
  Yuta Suzuki, Jonas Korlach, Stephen W. Turner, Tatsuya Tsukahara, Junko Taniguchi, Wei Qu, Kazuki Ichikawa, Jun Yoshimura, Hideaki Yurino, Yuji Takahashi, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroyuki Takeda, Shinichi Morishita
- Journal Title
  
  Bioinformatics
  
  Volume: 32(19) Issue: 19 Pages: 2911-2919
- DOI
  10.1093/bioinformatics/btw360
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15J03645, KAKENHI-PROJECT-16H06279
[Journal Article] Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.2016
- Author(s)
  Mitsui J, Matsukawa T, Yasuda T, Ishiura H, Tsuji S.
- Journal Title
  
  JAMA Neurol.
  
  Volume: 73 Issue: 8 Pages: 977-80
- DOI
  10.1001/jamaneurol.2016.1325
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09334
[Journal Article] Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply.2016
- Author(s)
  Mitsui J, Tsuji S.
- Journal Title
  
  JAMA Neurol.
  
  Volume: 73 Issue: 12 Pages: 1499-1500
- DOI
  10.1001/jamaneurol.2016.4133
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09334
[Journal Article] Variants associated with Gaucher disease in multiple system atrophy.2015
- Author(s)
  Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
- Journal Title
  
  Ann Clin Transl Neurol.
  
  Volume: 2 Issue: 4 Pages: 417-426
- DOI
  10.1002/acn3.185
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591248, KAKENHI-PROJECT-24591252, KAKENHI-PUBLICLY-25110720, KAKENHI-PUBLICLY-25129703, KAKENHI-PROJECT-25670420, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-26461311, KAKENHI-PROJECT-26461319, KAKENHI-PROJECT-15K09334, KAKENHI-PROJECT-26461303, KAKENHI-PROJECT-221S0002, KAKENHI-PROJECT-15H04842, KAKENHI-PROJECT-25461313, KAKENHI-PROJECT-25713015, KAKENHI-PLANNED-26117002, KAKENHI-ORGANIZER-26117001
[Journal Article] The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene2015
- Author(s)
  1.Saigoh K, Mitsui J, Hirano, M, Sioyama M, Samukawa M, Ichikawa Y, Goto J, Tsuji S, Kusunoki S
- Journal Title
  
  Parkinsonism Relat Disord
  
  Volume: 21 Issue: 3 Pages: 332-334
- DOI
  10.1016/j.parkreldis.2014.12.028
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461297, KAKENHI-PROJECT-25860700, KAKENHI-PUBLICLY-26110721
[Journal Article] Genomic Aspects of Sporadic Neurodegenerative Diseases.2014
- Author(s)
  Mitsui J and Tsuji S.
- Journal Title
  
  Biochem Biophys Res Commun
  
  Volume: 452 Issue: 2 Pages: 221-225
- DOI
  10.1016/j.bbrc.2014.07.098
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
[Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013
- Author(s)
  Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
- Journal Title
  
  J Bone Mineral Res
  
  Volume: 29 Issue: 4 Pages: 992-998
- DOI
  10.1002/jbmr.2091
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-23591489, KAKENHI-PROJECT-24791042, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-26670494, KAKENHI-PROJECT-221S0002
[Journal Article] Present efforts in the medical genome center at the university of Tokyo hospital.2013
- Author(s)
  Mitsui J, Ishiura H, Tsuji S.
- Journal Title
  
  Brain Nerve.
  
  Volume: 65(3) Pages: 247-55
- NAID
  40019613433
- Data Source
  KAKENHI-PROJECT-23790384
[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013
- Author(s)
  Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
- Journal Title
  
  PLoS One
  
  Volume: 8 Issue: 2 Pages: e56120-e56120
- DOI
  10.1371/journal.pone.0056120
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-22129001, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002, KAKENHI-PLANNED-22129008
[Journal Article] Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.2013
- Author(s)
  Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S
- Journal Title
  
  J. Neurol. Sci.
  
  Volume: 331 Issue: 1-2 Pages: 158-160
- DOI
  10.1016/j.jns.2013.05.018
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-25461266, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002
[Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.2012
- Author(s)
  Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.
- Journal Title
  
  Ann Neurol.
  
  Volume: 71(1) Pages: 84-92
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23790384
[Journal Article] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.2012
- Author(s)
  Ishiura H
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 91(2) Issue: 2 Pages: 320-9
- DOI
  10.1016/j.ajhg.2012.07.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22300118, KAKENHI-PROJECT-23500428, KAKENHI-PROJECT-23591233, KAKENHI-PROJECT-23659458, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-24300133, KAKENHI-PROJECT-24390220, KAKENHI-PROJECT-24406030, KAKENHI-PROJECT-24790348, KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002
[Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease2012
- Author(s)
  Maeda MH, Ishiura H, et al
- Journal Title
  
  Ann Neurol
  
  Volume: 71 Issue: 1 Pages: 84-92
- DOI
  10.1002/ana.22658
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10J05639, KAKENHI-PROJECT-22240090, KAKENHI-PROJECT-23591233, KAKENHI-PROJECT-23790384
[Journal Article] C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.2012
- Author(s)
  Ishiura H, Kokubo Y.
- Journal Title
  
  Arch Neurol.
  
  Volume: 69(9) Issue: 9 Pages: 1154-1158
- DOI
  10.1001/archneurol.2012.1219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21256005, KAKENHI-PROJECT-23591233, KAKENHI-PROJECT-23790384
[Journal Article] CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.2012
- Author(s)
  Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet.
  
  Volume: 159B(8) Issue: 8 Pages: 951-7
- DOI
  10.1002/ajmg.b.32100
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-24390220, KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129002, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-221S0002
[Journal Article] Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.2012
- Author(s)
  Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S.
- Journal Title
  
  Neurogenetics.
  
  Volume: 13(3) Issue: 3 Pages: 237-43
- DOI
  10.1007/s10048-012-0330-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23790384
[Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.2011
- Author(s)
  Ishiura H, Fukuda Y, Mitsui J, et. al.
- Journal Title
  
  Neurogenetics.
  
  Volume: 12 Pages: 117-121
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.2011
- Author(s)
  Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S.
- Journal Title
  
  Neurogenetics. 12(2)
  
  Pages: 117-21
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B52011
- Author(s)
  Matsukawa T, Ishiura H, et al
- Journal Title
  
  Neurogenetics
  
  Volume: 12 Issue: 3 Pages: 259-261
- DOI
  10.1007/s10048-011-0284-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10J05639, KAKENHI-PROJECT-22590923, KAKENHI-PROJECT-23790384
[Journal Article] Therapeutic trial design issues for future disease-modifying therapy of multiple system atrophy.2011
- Author(s)
  Ichikawa Y, Goto J, Nakahara Y, Mitsui J, Tsuji S.
- Journal Title
  
  Rinsho Shinkeigaku.
  
  Volume: 51(11) Pages: 910-3
- NAID
  130004504910
- Data Source
  KAKENHI-PROJECT-23790384
[Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR12011
- Author(s)
  Ishiura H, et al
- Journal Title
  
  Neurogenetics
  
  Volume: 12 Issue: 2 Pages: 117-121
- DOI
  10.1007/s10048-010-0271-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10J05639, KAKENHI-PROJECT-22590923, KAKENHI-PROJECT-23790384
[Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.2011
- Author(s)
  Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S
- Journal Title
  
  Neurogenetics
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Genetics of sporadic disease: insights fromhigh-throughput sequencing--Parkinson disease.2011
- Author(s)
  Mitsui J.
- Journal Title
  
  RinshoShinkeigaku.
  
  Volume: 51(11) Pages: 973-4
- Data Source
  KAKENHI-PROJECT-23790384
[Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.2010
- Author(s)
  Mitsui J, et. al.
- Journal Title
  
  J Hum Genet.
  
  Volume: 55 Pages: 448-455
- NAID
  10030735916
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.2010
- Author(s)
  Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S.
- Journal Title
  
  J Hum Genet. 55(7)
  
  Pages: 448-55
- NAID
  10030735916
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.2010
- Author(s)
  Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S.
- Journal Title
  
  Am J Hum Genet. 87(1)
  
  Pages: 75-89
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.2010
- Author(s)
  Mitsui J, et. al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 87 Pages: 75-89
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890041
[Journal Article] Genetic basis of sponadic Parkinson disease common disease-multiple rare variants.2010
- Author(s)
  Mitsui J.
- Journal Title
  
  Rinsho Shinkeigaku.
  
  Volume: 50(11) Pages: 865-6
- NAID
  130004504662
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] Identification of a somatic GJA4 mutation in orbital cavernous venous malformations2023
- Author(s)
  Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, Shogo Dofuku, Kenta Ohara, Daiichiro Ishigami, Atsushi Okano, Jun Mitsui, Hiroto Katoh, Masakazu Kurita, Masakatsu Watanabe, Masahiro Shin, Hirofumi Nakatomi, Hiroshi Goto, Shumpei Ishikawa, Nobuhito Saito.
- Organizer
  第22回東京大学生命科学シンポジウム
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 新規血管奇形原因遺伝子変異の探索: GJA4変異の同定と機能解析2023
- Author(s)
  本郷博貴, 宮脇哲, 寺西裕, 堂福翔吾, 小原健太, 石神大一郎, 岡野淳, 三井純, 加藤洋人, 栗田昌和, 渡邉正勝, 辛正廣, 中冨浩文, 後藤浩, 石川俊平, 齊藤延人.
- Organizer
  第8回血管生物医学会若手研究会
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 脳・眼窩内血管奇形の遺伝子解析研究（シンポジウム）（招待講演）2023
- Author(s)
  本郷博貴, 宮脇哲, 寺西裕, 堂福翔吾, 小原健太, 石神大一郎, 岡野淳, 清藤哲史, 三井純, 栗田昌和, 渡邉正勝, 辛正廣, 中冨浩文, 後藤浩, 石川俊平, 齊藤延人.
- Organizer
  第81回日本脳神経外科学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 脳および眼窩内海綿状血管奇形の体細胞遺伝子変異解析（シンポジウム）2023
- Author(s)
  本郷博貴, 宮脇哲, 寺西裕, 堂福翔吾, 小原健太, 石神大一郎, 岡野淳, 三井純, 加藤洋人, 栗田昌和, 渡邉正勝, 辛正廣, 中冨浩文, 後藤浩, 石川俊平, 齊藤延人.
- Organizer
  STROKE 2023
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 眼窩内海綿状血管奇形における新規関連遺伝子変異の同定.2022
- Author(s)
  本郷博貴, 宮脇哲, 寺西裕, 堂福翔吾, 小原健太, 石神大一郎, 岡野淳, 三井純, 加藤洋人, 栗田昌和, 渡邉正勝, 辛正廣, 中冨浩文, 後藤浩, 石川俊平, 齊藤延人.
- Organizer
  日本脳神経外科学会第81回学術総会
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 眼窩内海綿状血管奇形関連遺伝子変異の同定.2022
- Author(s)
  本郷博貴, 宮脇哲, 栗田昌和, 加藤基, 寺西裕, 堂福翔吾, 小原健太, 石神大一郎, 岡野淳, 三井純, 加藤洋人, 渡邉正勝, 辛正廣, 中冨浩文, 後藤浩, 石川俊平, 岡崎睦, 齊藤延人.
- Organizer
  第18回日本血管腫血管奇形学会学術集会
- Data Source
  KAKENHI-PROJECT-21H03041
[Presentation] 多系統萎縮症に対する疾患修飾薬の実現に向けて2022
- Author(s)
  辻　省次，三井　純
- Organizer
  第12回日本小脳学会
- Invited
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症における治療開発2021
- Author(s)
  三井　純
- Organizer
  第62回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] Germline mutations and homologous recombination deficiency (HRD) in patients with double primary BRCA-associated cancers2021
- Author(s)
  Maki Tanioka, Masayuki Yoshida, Tomomi Yoshino, Nobuyoshi Hiraoka, Hiroshi Yoshida, Shigehiro Yagishita, Takashi Kohno, Jun Yoshimura, Jun Mitsui, Kan Yonemori
- Organizer
  日本人類遺伝学会第66回大会第28回日本遺伝子診療学会大会合同開催
- Data Source
  KAKENHI-PROJECT-16H06279
[Presentation] Esophageal motility disorders are common in patients with multiple system atrophy2020
- Author(s)
  Rumi Ueha1* M.D., Ph.D.; Taku Sato1 M.D.; Takao Goto1 M.D; Akihito Yamauchi1 M.D., Ph.D.; Nogah Nativ-Zeltzer2 SLP, Ph.D.; Jun Mitsui3 M.D., Ph.D.; Tatsushi Toda3 M.D., Ph.D.; Peter Belafsky2 M.D., Ph.D. and Tatsuya Yamasoba1 M.D., Ph.D.
- Organizer
  Combined Otolaryngology Spring Meetings 2020
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症の自然歴における予後因子の検討2020
- Author(s)
  近田彩香1, 松川敬志2, 三井純2, 辻省次2,3, 戸田達史1
- Organizer
  第61回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] MSAのCoenzyme Q10治験2020
- Author(s)
  辻　省次，三井　純
- Organizer
  第73回日本自律神経学会総会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] Clinical features of multiplex families with multiple system atrophy2020
- Author(s)
  Takashi Matsukawa, Jun MitsuiAyaka Chikada, Joyce Linay, Hiroyuki Ishiura, Tatsushi Toda, and Shoji Tsuji
- Organizer
  7th International Congress of Multiple System Atrophy
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症における胸部CTでの食道拡張所見2020
- Author(s)
  川上遥1, 海永光洋1, 三井純1, 上羽瑠美2, 作石かおり1, 岩田淳1, 戸田達史1
- Organizer
  第61回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] Characteristics of Mosaic Neurofibromatosis type 2 Revealed by Deep Sequence for Multiple Tissue DNA2020
- Author(s)
  Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Atsushi Okano, Shunsaku Takayanagi, Takahiro Ota, Jun Yoshimura, Wei Qu, Jun Mitsui, Hirofumi Nakatomi, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
- Organizer
  2020 European NF Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H06279
[Presentation] The natural history of multiple system atrophy in Japan2020
- Author(s)
  Ayaka Chikada, Jun Mitsui, Takashi Matsukawa, Tatsushi Toda, Shoji Tsuji
- Organizer
  7th International Congress of Multiple System Atrophy
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] Association of CGG repeats in the FMR1 gene with multiple system atrophy2020
- Author(s)
  M. Asem Almansour1, Hiroyuki Ishiura1, Jun Mitsui2, Shoji Tsuji2,3, Tatsushi Toda1
- Organizer
  7th International Congress of Multiple System Atrophy
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 医師主導治験におけるCOVID-19への対応2020
- Author(s)
  和田育江、田中佑美、平野麻理、葛山晴子、金子真佐美、何俊郎、三井純、辻省次、森豊隆志
- Organizer
  第41回日本臨床薬理学会学術総会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] MSA基礎研究でどこまでわかったか2020
- Author(s)
  三井　純
- Organizer
  第14回パーキンソン病・運動障害疾患コングレス
- Invited
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] Registry and natural history of MSA in Japan2020
- Author(s)
  Jun Mitsui
- Organizer
  7th International Congress of Multiple System Atrophy
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症に対する医師主導治験2019
- Author(s)
  辻　省次，三井　純
- Organizer
  第37回日本神経治療学会
- Invited
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症患者の自然歴調査2019
- Author(s)
  近田　彩香，松川敬志，三井純，辻省次，戸田達史，多系統萎縮症の革新的治療法の創出を目指した研究班
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] MSA-PとMSA-Cは同じ疾患か2019
- Author(s)
  三井　純
- Organizer
  第13回パーキンソン病・運動障害疾患コングレス
- Invited
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 統一多系統萎縮症評価尺度の日本語版の作成と信頼性・妥当性について2019
- Author(s)
  近田　彩香, 松川　敬志, 三井　純, 尾方　克久, 辻　省次, 戸田　達史
- Organizer
  第13回パーキンソン病・運動障害疾患コングレス
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 医師主導治験における患者レジストリーからの被験者リクルート2019
- Author(s)
  和田育江、平野麻理、葛山晴子、何俊郎、三井純、辻省次、森豊隆志
- Organizer
  第40回日本臨床薬理学会学術総会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 代替マトリックスを用いたヒト脳脊髄液中コエンザイムQ10の分析法の開発及び実試料測定2019
- Author(s)
  落合　良介，脇田　由貴子，辻野　一，工藤　忍，三井　純，辻　省次
- Organizer
  Japan Bioanalysis Forum 2019
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 日本語版統一多系統萎縮症評価尺度の信頼性・妥当性について2018
- Author(s)
  近田　彩香，松川　敬志，三井　純，尾方　克久，戸田　達史，辻　省次
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 多系統萎縮症におけるMIBG心筋シンチと臨床像に関する検討2018
- Author(s)
  織茂賢太，栗原正典，近田彩香，三井純，戸田達史
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] ゲノムから孤発性神経疾患が解明できるか？2018
- Author(s)
  三井　純
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18H02739
[Presentation] 個人情報保護法改正の影響を考える(ワークショップのオーガナイザーとして。学会論文集は以下の著者で執筆)2016
- Author(s)
  藤田卓仙, 荻島創一, 三井純, 鈴木穣, 上原哲太郎, 山本奈津子, 川嶋実苗, 鈴木正朝
- Organizer
  第36回医療情報学連合大会(第17回日本医療情報学会学術大会)
- Place of Presentation
  横浜
- Year and Date
  2016-11-21
- Data Source
  KAKENHI-PROJECT-16H06279
[Presentation] Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs．2016
- Author(s)
  Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
- Organizer
  International Congress of Human Genetics
- Place of Presentation
  Kyoto
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26253054
[Presentation] Functional Analysis of COQ2 V393A variant associated with Multiple system atrophy based on measurement of Oxygen Consumption Rate of Transformed Yeasts Carrying human COQ2 cDNAs.2016
- Author(s)
  Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  Kyoto, Japan
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26253054
[Presentation] Variants associated with Gaucher disease in multiple system atrophy.2015
- Author(s)
  Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, JAMSAC, NAMSA-SG, Tsuji S.
- Organizer
  The 67th American Academy of Neurology Annual Meeting
- Place of Presentation
  Washington DC (United States of America)
- Year and Date
  2015-04-22
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09334
[Presentation] 多系統萎縮症の遺伝学的検討2015
- Author(s)
  三井　純，松川　敬志，佐々木　秀直，矢部一郎，松島　理明，Alexandra Dürr，Alexis Brice，高嶋　博，JAMSAC，NAMSA-SG，辻　省次
- Organizer
  第56回神経学会学術大会
- Place of Presentation
  朱鷺メッセ（新潟県・新潟市）
- Year and Date
  2015-05-21
- Data Source
  KAKENHI-PROJECT-15K09334
[Presentation] Genetics in Multiple System Atrophy.2014
- Author(s)
  Mitsui J
- Organizer
  The 13th International Parkinson’s disease Symposium in Takamatsu.
- Place of Presentation
  Takamatsu, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] Mutations in COQ2 in Familial and Sporadic Multiple-system Atrophy.2014
- Author(s)
  Mitsui J
- Organizer
  3rd GCOE Workshop between BGI and UT.
- Place of Presentation
  Tokyo, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] 多系統萎縮症の疾患関連遺伝子の探索2014
- Author(s)
  三井　純，松川　敬志，石浦　浩之，市川　弥生子，後藤　順，JAMSAC，村山　繁雄，高嶋　博，佐々木　秀直，辻　省次．
- Organizer
  第55回神経学会総会
- Place of Presentation
  福岡国際会議場
- Year and Date
  2014-05-23
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] COQ2変異は家族性・孤発性多系統萎縮症と関連する．2013
- Author(s)
  三井　純，松川　敬志，石浦　浩之，福田　陽子，市川　弥生子，伊達　英俊，Budrul Ahsan，中原　康雄，百瀬　義雄，高橋　祐二，岩田　淳，後藤　順，The MSA Research Collaboration，辻　省次．
- Organizer
  第58回日本人類遺伝学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] Mutations of COQ2 in Familial and Sporadic Multiple System Atrophy.2013
- Author(s)
  Mitsui J, Matsukawa T, Ishiura H, et al.
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  Boston, US
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] エクソーム解析による遺伝的異質性の高い疾患に対する遺伝子検査．2013
- Author(s)
  三井　純，後藤　順，辻　省次．
- Organizer
  第20回日本遺伝子診療学会大会
- Place of Presentation
  浜松
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] Molecular genetics of multiple system atrophy: results from the Japan Multiple System Atrophy Research Consortium.2013
- Author(s)
  JAMSAC (Japan Multiple System Atrophy Research Consortium), Jun Mitsui, Yaeko Ichikawa, Jun Goto, Shoji Tsuji.
- Organizer
  17th International Congress of Parkinson’s Disease and Movement Disorder
- Place of Presentation
  Sydney, Australia
- Data Source
  KAKENHI-PROJECT-25860700
[Presentation] ファブリー病の診断における問題点～E66Qに関連して～2012
- Author(s)
  三井　純
- Organizer
  第8回日本ファブリー病フォーラム
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] ファブリー病の診断における問題点～E66Q に関連して～2012
- Author(s)
  三井純.
- Organizer
  第8回日本ファブリー病フォーラム
- Place of Presentation
  東京
- Year and Date
  2012-07-22
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] 孤発性疾患の研究～パーキンソン病～2011
- Author(s)
  三井純
- Organizer
  第52回日本神経学会学術大会,シンポジウム
- Place of Presentation
  名古屋
- Year and Date
  2011-05-19
- Data Source
  KAKENHI-PROJECT-22890041
[Presentation] パーキンソン病感受性遺伝子探索　～ライソゾーム病関連遺伝子からのアプローチ～2011
- Author(s)
  三井　純，辻省次
- Organizer
  平成23年度厚生労働省難治性疾患克服研究事業ライソゾーム病（ファブリー病含む）に関する調査研究班会議
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] パーキンソン病におけるGLA遺伝子解析2011
- Author(s)
  三井　純
- Organizer
  第7回日本ファブリ―病フォーラム
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] 疾患と関連する稀で多様な変異の検出を目的としたpooled DNA解析2011
- Author(s)
  三井純,土井晃一郎,石浦浩之,高橋祐二,後藤順,森下真一,辻省次
- Organizer
  第52回日本神経学会学術大会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-20
- Data Source
  KAKENHI-PROJECT-22890041
[Presentation] 孤発性疾患の研究　～パーキンソン病～2011
- Author(s)
  三井　純
- Organizer
  第52回日本神経学会総会(招待講演)
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] Whole genome解析による神経疾患へのアプローチ2011
- Author(s)
  三井　純，石浦　浩之，高橋　祐二，辻　省次
- Organizer
  平成23年度第1回　パーソナルゲノム情報班　班会議
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] パーキンソン病の遺伝因子について2011
- Author(s)
  三井　純
- Organizer
  第16回パーキンソン病フォーラム
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] パーキンソン病における GLA解析2011
- Author(s)
  三井純.
- Organizer
  第7回日本ファブリー病フォーラム
- Place of Presentation
  東京
- Year and Date
  2011-07-10
- Data Source
  KAKENHI-PROJECT-23790384
[Presentation] Case-control association study of PARK2 exon rearrangements in Parkinson disease using an array comparative genomic hybridization analysis.2010
- Author(s)
  Mitsui J, et al.
- Organizer
  American Society of Human Genetics.
- Place of Presentation
  Washington D.C., U.S.A.
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-22890041
[Presentation] Case-control association study of PARK2 exon rearrangements in Parkinson disease using an array comparative genomic hybridization analysis.2010
- Author(s)
  Mitsui J, et. al.
- Organizer
  American Society of Human Genetics
- Place of Presentation
  Washington D.C., U.S.A
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-22890041
[Presentation] アレイCGHを用いたPARK2欠失・重複変異検出によるパーキンソン病の関連解析2010
- Author(s)
  三井純,高橋祐二,後藤順,齊藤祐子,村山繁雄,辻省次
- Organizer
  第51回神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890041
[Presentation] 孤発性パーキンソン病の遺伝子:common disease-multiple rare variants2010
- Author(s)
  三井純
- Organizer
  第51回日本神経学会総会,シンポジウム
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890041

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81. 高柳俊作

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# of Collaborated Products: 1 results
82. 高紀信

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
83. 陸雄一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MITSUI Jun 三井 純

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Elucidation of novel genetic factors in multiple system atrophy on the basis of patient registry and whole genome analysisPrincipal Investigator

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Development of Novel Therapeutic Strategies for Cerebral Cavernous Malformations Based on Functional Analysis of the GJA4 Gene

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Elucidation of dsease mechanisms of neurodegenerative diseases based on comprehensive analysis of repeat expansions in non-coding regions

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Analysis of novel vascular malformation causative gene

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Elucidation of mplecular mechanism of multiple system atrophy employing a patient registry systemPrincipal Investigator

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Platform for Advanced Genome Science

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The search for a biomarker for multiple system atrophyPrincipal Investigator

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Elucidation of molecular mechanisms and development of surrogate markers for multiple system atrophy caused by COQ2 mutations

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A genetic study of patients with multiple system atrophy from consanguineous familiesPrincipal Investigator

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Elucidation of genetic factors for Parkinson disease employing next-generation sequencerPrincipal Investigator

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Identifying susceptible genes for Parkinson disease employing next-generation sequencerPrincipal Investigator

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[Book] 最新精神・神経遺伝医学研究と遺伝カウンセリング2017

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[Book] 運動失調のみかた、考えかた ―小脳と脊髄小脳変性症―2017

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MITSUI Jun 三井純

[Book] 運動失調のみかた、考えかた　―小脳と脊髄小脳変性症―2017

[Journal Article] <i>RNF213</i> p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis2024