Mitsuhashi Satomi 三橋里美

… Alternative Names

三橋里美ミツハシサトミ

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Researcher Number	40466222
Other IDs
Affiliation (Current)	2025: 聖マリアンナ医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help	2022 – 2023: 聖マリアンナ医科大学, 医学部, 教授 2020 – 2021: 東京医科歯科大学, 難治疾患研究所, 准教授 2017 – 2019: 横浜市立大学, 医学部, 助教 2015 – 2016: 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一部, 室長 2011: 独立行政法人国立精神・神経医療研究センター, 病院・臨床検査部, レジデント 2010: 独立行政法人国立精神・神経医療研究センター, 病院臨床検査部, レジデント
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related / Neurology / Pediatrics Except Principal Investigator Basic Section 52020:Neurology-related / Molecular and Genome biology and related fields
Keywords	Principal Investigator 顔面肩甲上腕型筋ジストロフィー / DUX4 / ゲノム構造異常 / リピート病 / 単純反復配列 / ロングリードシークエンサー / 遺伝性神経疾患 / ナノポアシークエンサー / 疾患生物学 / 筋細胞分化 … More / トランスクリプトーム / 骨格筋再生 / 筋疾患 / 疾患発症修飾因子 / 遺伝子診断 / D4Z4リピート / ミトコンドリア / リン脂質 / 筋病学 … More Except Principal Investigator ERV / トランスクリプトーム / 筋ジストロフィー / FSHD / DUX4 / 内在性レトロウイルス / 筋疾患 / 非コードDNA / ロングリード / ロングリードシークエンス / ロングリードシークエンサー / 遺伝子発現 / 分化 / 破骨細胞 / 細胞分化 / osteoblast / myoblast / 性差 / RNA-seq / トランスポゾン / RNA-seq解析 / 系統特異性 / 筋細胞 / 細胞融合 / 新規遺伝子 / レトロトランスポゾン / novel gene / cell fusion / cell differentiation / envelope gene / Endogenous retrovirus Less

Functional role of DUX4 paralogs and treatment strategy in Facioscapulohumeral muscular dystrophyPrincipal Investigator
- Principal Investigator
  
  三橋里美
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  St. Marianna University School of Medicine
Pathological significance of transcriptional activation of non-coding DNA by DUX4
- Principal Investigator
  
  Mitsuhashi Hiroaki
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Tokai University
Analysis of neurological genetic diseases using nanopore long read sequencerPrincipal Investigator
- Principal Investigator
  
  Mitsuhashi Satomi
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Tokyo Medical and Dental University
  Yokohama City University
Search for endogenous retroviruses involved in FSHD
- Principal Investigator
  
  Mitsuhashi Hiroaki
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Tokai University
Identification and function of endogenous retrovirus derived genes that mediate cell fusion
- Principal Investigator
  
  UEDA Mahoko
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Research Field
  
  Molecular and Genome biology and related fields
- Research Institution
  Tokai University
Roles of MEGF10 in the pathomechanisms of myopathyPrincipal Investigator
- Principal Investigator
  
  Mitsuhashi Satomi
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  Yokohama City University
顔面肩甲上腕型筋ジストロフィーにおける新規エピジェネティック制御因子の探索Principal Investigator
- Principal Investigator
  
  三橋里美
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  National Center of Neurology and Psychiatry
生体膜リン脂質合成不全による筋ジストロフィーの病態解明と治療法開発Principal Investigator
- Principal Investigator
  
  三橋里美
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry

All 2022 2021 2020 2019 2018 2017 2016 2015 2011 2010

All Journal Article Presentation Book Patent

[Book] 実験医学別冊ロングリード・シークエンス解析ガイド2021
- Author(s)
  三橋里美
- Total Pages
  230
- Publisher
  羊土社
- ISBN
  4758122539
- Data Source
  KAKENHI-PROJECT-19K07977
[Journal Article] 顔面肩甲上腕型筋ジストロフィーの治療法開発に向けたDUX4遺伝子の機能解析2022
- Author(s)
  三橋弘明
- Journal Title
  
  医療
  
  Volume: 76 Pages: 50-54
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07426
[Journal Article] Detecting the NOTCH2NLC repeat expansion in neuronal intranuclear inclusion disease2022
- Author(s)
  Mitsuhashi S, Fujita A, Matsumoto N
- Journal Title
  
  Genomic Structural Variants in Nervous System Disorders
  
  Volume: 7
- Data Source
  KAKENHI-PROJECT-19K07977
[Journal Article] Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells2021
- Author(s)
  Mitsuhashi Satomi、Nakagawa So、Sasaki-Honda Mitsuru、Sakurai Hidetoshi、Frith Martin C、Mitsuhashi Hiroaki
- Journal Title
  
  Human Molecular Genetics
  
  Volume: in press Issue: 7 Pages: 552-563
- DOI
  10.1093/hmg/ddab063
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K16611, KAKENHI-INTERNATIONAL-16K21723, KAKENHI-PROJECT-18K07511, KAKENHI-PROJECT-16H06279, KAKENHI-ORGANIZER-16H06429, KAKENHI-PROJECT-20K06775
[Journal Article] Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population2021
- Author(s)
  Mitsuhashi Satomi、Frith Martin C.、Matsumoto Naomichi
- Journal Title
  
  BMC Medical Genomics
  
  Volume: 14 Issue: 1 Pages: 17-17
- DOI
  10.1186/s12920-020-00853-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-16H06279
[Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing2021
- Author(s)
  Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
- Journal Title
  
  Clin Epigenetics
  
  Volume: 13 Issue: 1 Pages: 204-204
- DOI
  10.1186/s13148-021-01192-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K21400, KAKENHI-PUBLICLY-20H05370, KAKENHI-PUBLICLY-21H00207, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-19K07250, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-19KK0183
[Journal Article] Long-read sequencing for rare human genetic diseases2020
- Author(s)
  Satomi Mitsuhashi, Naomichi Matsumoto
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 1 Pages: 11-19
- DOI
  10.1038/s10038-019-0671-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-17H01539
[Journal Article] Long-read Sequencing Identifies the Pathogenic Nucleotide Repeat Expansion in RFC1 in a Japanese Case of CANVAS2020
- Author(s)
  Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota, Misako Kunii, Yu Kitazawa, Mikiko Tada, Mitsuo Okamoto, Hideto Joki, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 5 Pages: 475-480
- DOI
  10.1038/s10038-020-0733-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K06767, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-18K07503
[Journal Article] A pipeline for complete characterization of complex germline rearrangements from long DNA reads2020
- Author(s)
  Mitsuhashi Satomi、Ohori Sachiko、Katoh Kazutaka、Frith Martin C.、Matsumoto Naomichi
- Journal Title
  
  Genome Medicine
  
  Volume: 12 Issue: 1 Pages: 67-67
- DOI
  10.1186/s13073-020-00762-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K06767, KAKENHI-PROJECT-16H06279
[Journal Article] Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer?Giedion syndrome and Cornelia de Lange syndrome-42020
- Author(s)
  Lei Ming、Liang Desheng、Yang Yifeng、Mitsuhashi Satomi、Katoh Kazutaka、Miyake Noriko、Frith Martin C.、Wu Lingqian、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 8 Pages: 667-674
- DOI
  10.1038/s10038-020-0754-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07464, KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K06767
[Journal Article] lamassemble: Multiple Alignment and Consensus Sequence of Long Reads2020
- Author(s)
  Frith Martin C.、Mitsuhashi Satomi、Katoh Kazutaka
- Journal Title
  
  Methods Mol Biol.
  
  Volume: 2231 Pages: 135-145
- DOI
  10.1007/978-1-0716-1036-7_9
- ISBN
  9781071610350, 9781071610367
- Data Source
  KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-20K06767, KAKENHI-PROJECT-16K07464
[Journal Article] Comprehensive genomic analysis reveals dynamic evolution of mammalian transposable elements that code for viral-like protein domains2019
- Author(s)
  Mahoko T. Ueda, Kirill Kryukov, Satomi Mitsuhashi, Hiroaki Mitsuhashi, Tadashi Imanishi, So Nakagawa
- Journal Title
  
  bioRxiv
  
  Volume: NA Pages: 1-46
- DOI
  10.1101/628875
- Open Access
- Data Source
  KAKENHI-PROJECT-17K19359
[Journal Article] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease2019
- Author(s)
  Sone Jun、Mitsuhashi Satomi et al.
- Journal Title
  
  Nature Genetics
  
  Volume: 51 Issue: 8 Pages: 1215-1221
- DOI
  10.1038/s41588-019-0459-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07464, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K07982, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-16K09683
[Journal Article] Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.2017
- Author(s)
  Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB
- Journal Title
  
  Human molecular genetics
  
  Volume: 26 Issue: 15 Pages: 2984-3000
- DOI
  10.1093/hmg/ddx189
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16132
[Journal Article] Mutations in DNMT3B modify the epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy2016
- Author(s)
  van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, et al.
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 98 Issue: 5 Pages: 1020-1029
- DOI
  10.1016/j.ajhg.2016.03.013
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09346
[Journal Article] Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.2016
- Author(s)
  Hamanaka, K., Goto, K., Arai, M., Nagao, K., Obuse, C., Noguchi, S., Hayashi, Y. K., Mitsuhashi, S., and Nishino, I.
- Journal Title
  
  Neuromuscul Disord.
  
  Volume: 26 Issue: 4-5 Pages: 300-308
- DOI
  10.1016/j.nmd.2016.03.001
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K06942, KAKENHI-PUBLICLY-15H01462, KAKENHI-PROJECT-16H04739, KAKENHI-PROJECT-15K09346, KAKENHI-PROJECT-26650002, KAKENHI-PLANNED-25116004
[Journal Article] Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy2011
- Author(s)
  三橋里美
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 20(19) Issue: 19 Pages: 3841-3851
- DOI
  10.1093/hmg/ddr305
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591104, KAKENHI-PROJECT-22791019
[Journal Article] Phospholipid synthetic defect and mitophagy in muscle disease2011
- Author(s)
  Satomi Mitsuhashi
- Journal Title
  
  Autophagy
  
  Volume: 7 Issue: 12 Pages: 1559-1561
- DOI
  10.4161/auto.7.12.17925
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22791019
[Journal Article] A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis2011
- Author(s)
  三橋里美
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 88 Issue: 6 Pages: 845-851
- DOI
  10.1016/j.ajhg.2011.05.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591104, KAKENHI-PROJECT-22791019
[Patent] 神経核内封入体病患者の検出方法2019
- Inventor(s)
  祖父江元、曽根淳、松本直通、三橋里美、藤田京志
- Industrial Property Rights Holder
  祖父江元、曽根淳、松本直通、三橋里美、藤田京志
- Industrial Property Rights Type
  特許
- Filing Date
  2019
- Overseas
- Data Source
  KAKENHI-PROJECT-19K07977
[Patent] 特許(通常出願)2010
- Inventor(s)
  西野一三, 三橋里美
- Industrial Property Rights Holder
  西野一三, 三橋里美
- Industrial Property Number
  2010-122028
- Filing Date
  2010-05-27
- Data Source
  KAKENHI-PROJECT-22791019
[Presentation] ロングリードシークエンサーによる伸長リピートの検出2022
- Author(s)
  三橋里美
- Organizer
  脳神経内科医のためのバイオインフォマティクスハンズオンセミナー
- Invited
- Data Source
  KAKENHI-PROJECT-19K07977
[Presentation] 顔面肩甲上腕型筋ジストロフィーの病態解明と治療法開発研究2021
- Author(s)
  三橋弘明
- Organizer
  日本人類遺伝学会第66回大会
- Invited
- Data Source
  KAKENHI-PROJECT-21K07426
[Presentation] ナノポアダイレクトRNAシークエンスによる骨格筋でのDUX4誘導転写産物の解析2021
- Author(s)
  三橋里美, 中川草, 本田充, 櫻井秀俊, マーチン・フリス, 三橋弘明
- Organizer
  第44回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-19K07977
[Presentation] Finding complex mutations using long reads2019
- Author(s)
  三橋里美
- Organizer
  第13回国際ゲノム会議
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07977
[Presentation] Genome-wide comparative analysis of mammalian transposable elements that code for viral-like proteins.2019
- Author(s)
  1Ueda MT, Mitsuhashi S, Mitsuhashi H, Imanishi T, Nakagawa S
- Organizer
  The Society for Molecular Biology and Evolution (SMBE2019), Symposia “Repeats and mobile elements as drivers of innovations in protein coding genes”
- Data Source
  KAKENHI-PROJECT-17K19359
[Presentation] 哺乳類ゲノムのレトロトランスポゾンに由来するタンパク質コード配列のダイナミックな進化2019
- Author(s)
  上田真保子，クリュコフキリル，三橋里美，三橋弘明，今西規，中川草
- Organizer
  日本進化学会第21回大会シンポジウム“大規模DNAシーケンス時代のウイルス進化研究”
- Invited
- Data Source
  KAKENHI-PROJECT-17K19359
[Presentation] Finding complex pathogenic variants using nanopore long reads2019
- Author(s)
  Satomi Mitsuhashi
- Organizer
  American Society of Human Genetics 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07977
[Presentation] ロングリードシークエンスによるタンデムリピート領域の解析2019
- Author(s)
  三橋里美
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07977
[Presentation] 顔面肩甲上腕型筋ジストロフィー病態に関与する内在性レトロウイルスの探索2018
- Author(s)
  三橋里美、中川草、Martin C. Frith、三橋弘明
- Organizer
  2018年度「先進ゲノム支援」拡大班会議
- Data Source
  KAKENHI-PROJECT-18K07511
[Presentation] 顔面肩甲上腕型筋ジストロフィー患者のエピゲノム解析2015
- Author(s)
  三橋里美，濵中耕平，後藤加奈子，西野一三
- Organizer
  第38回日本分子生物学会年会／第88回日本生化学会大会合同大会
- Place of Presentation
  神戸 (神戸ポートアイランド)
- Year and Date
  2015-12-01
- Data Source
  KAKENHI-PROJECT-15K09346
[Presentation] 顔面肩甲上腕型筋ジストロフィーのD4Z4エピゲノムおよび局在タンパク質の解析2015
- Author(s)
  三橋里美
- Organizer
  第三回若手による骨格筋細胞研究会
- Place of Presentation
  福岡 (九州大学病院キャンパスコラボレーションⅠ・Ⅱ)
- Year and Date
  2015-11-24
- Data Source
  KAKENHI-PROJECT-15K09346
[Presentation] SMCHD1 haploinsufficiency: common in Japan?2015
- Author(s)
  Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I
- Organizer
  FSH Society Facioscapulohumeral Muscular Dystrophy 2015 International Research Consortium & Research Planning Meetings
- Place of Presentation
  Boston, MA, USA (The Westin Boston Waterfront Hotel)
- Year and Date
  2015-10-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09346
[Presentation] Genetic analysis of Japanese FSHD patients2015
- Author(s)
  Mitsuhashi S
- Organizer
  10th Japanese-French Workshop
- Place of Presentation
  Paris, France (Institute of Myology)
- Year and Date
  2015-07-02
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09346
[Presentation] A novel congenital muscular dystrophy with mitochondrial structural abnormalities (CMDmt) caused by defective de novo phosphatidylcholine biosynthesis2010
- Author(s)
  Satomi Mitsuhashi
- Organizer
  World Muscle Society
- Place of Presentation
  熊本、崇城大学市民ホール
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PROJECT-22791019

1. Mitsuhashi Hiroaki (20466220)

# of Collaborated Projects: 4 results

# of Collaborated Products: 10 results
2. 中川草 (70510014)

# of Collaborated Projects: 3 results

# of Collaborated Products: 1 results
3. UEDA Mahoko (60760353)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
4. Frith Martin (40462832)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
5. KATOH Kazutaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 長尾恒治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Mitsuhashi Satomi 三橋 里美

三橋 里美 ミツハシ サトミ

Research Projects

Research Products

Co-Researchers

Functional role of DUX4 paralogs and treatment strategy in Facioscapulohumeral muscular dystrophyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Pathological significance of transcriptional activation of non-coding DNA by DUX4

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Analysis of neurological genetic diseases using nanopore long read sequencerPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Search for endogenous retroviruses involved in FSHD

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification and function of endogenous retrovirus derived genes that mediate cell fusion

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Roles of MEGF10 in the pathomechanisms of myopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

顔面肩甲上腕型筋ジストロフィーにおける新規エピジェネティック制御因子の探索Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

生体膜リン脂質合成不全による筋ジストロフィーの病態解明と治療法開発Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] 実験医学別冊ロングリード・シークエンス解析ガイド2021

Author(s)

Total Pages

Publisher

ISBN

Data Source

[Journal Article] 顔面肩甲上腕型筋ジストロフィーの治療法開発に向けたDUX4遺伝子の機能解析2022

Author(s)

Journal Title

Data Source

[Journal Article] Detecting the NOTCH2NLC repeat expansion in neuronal intranuclear inclusion disease2022

Author(s)

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[Journal Article] Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells2021

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[Journal Article] Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population2021

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[Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing2021

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Mitsuhashi Satomi 三橋里美

三橋里美ミツハシサトミ