Miyatake Satoko 宮武聡子

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MIYATAKE Satoko 宮武聡子

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Researcher Number	50637890
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 附属病院, 准教授
Affiliation (based on the past Project Information) *help	2022 – 2024: 横浜市立大学, 附属病院, 准教授 2016 – 2021: 横浜市立大学, 附属病院, 講師 2015: 横浜市立大学, 附属病院, 助教 2014: 横浜市立大学, 医学(系)研究科(研究院), 特任助教
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related / Pediatrics Except Principal Investigator General medical chemistry
Keywords	Principal Investigator ターゲットロングリードシーケンス法 / ナノポアシーケンス / CANVAS / リピート伸長病 / 脊髄小脳変性症 / 神経筋疾患 / ロングリードシーケンサー / SCA27B / 筋萎縮性側索硬化症 / ロングリードシーケンサ … More / ロングリード解析 / RFC1 / ゲノム / 遺伝学 / 多少脳回 / 傍シルビウス裂症候群 / 全エクソーム解析 / RNF213 / 全エキソーム解析 / エキソーム解析 / もやもや病 … More Except Principal Investigator AIS / 小脳 / 運動失調 / 微小管安定化 / プルキンエ細胞 / アンキリン / 脊髄小脳変性症 / MTCL1 / 架橋 / 軸索起始部 / 微小管 Less

ロングリードシーケンサーを駆使した神経筋疾患の統合的ゲノム解析と病態解明Principal Investigator
- Principal Investigator
  
  宮武聡子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Yokohama City University
Elucidating genetic cause and patho-mechanism of neuromusucular disorders using long-read sequencerPrincipal Investigator
- Principal Investigator
  
  MIYATAKE Satoko
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Yokohama City University
Comprehensive genomic analysis on perisylvian syndromePrincipal Investigator
- Principal Investigator
  
  Miyatake Satoko
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University
MTCL1 plays an essential role to maintain axon initial segment
- Principal Investigator
  
  SUZUKI Atsushi
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  General medical chemistry
- Research Institution
  Yokohama City University
Whole exome sequencing in moyamoya diseasePrincipal Investigator
- Principal Investigator
  
  MIYATAKE Satoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation Patent Other

[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024
- Author(s)
  Utsuno Y., Hamada K., Hamanaka K., Miyoshi K., Tsuchimoto K., Sunada S., Itai T., Sakamoto M., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Miyatake S., Misawa K., Mizuguchi T., Kato Y., Saito K., Ogata K. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 69-77
- DOI
  10.1038/s10038-023-01206-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients2024
- Author(s)
  Matsushima Masaaki、Yaguchi Hiroaki、Koshimizu Eriko、Kudo Akihiko、Shirai Shinichi、Matsuoka Takeshi、Ura Shigehisa、Kawashima Atsushi、Fukazawa Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Yabe Ichiro
- Journal Title
  
  Journal of Neurology
  
  Volume: - Issue: 6 Pages: 3643-3647
- DOI
  10.1007/s00415-024-12308-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024
- Author(s)
  Inoue Y., Tsuchida N., Kim C. A., de Oliveira Stephan B., Castro M. A. A., Honjo R. S., Bertola D. R., Uchiyama Y., Hamanaka K., Fujita A., Koshimizu E., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 163-167
- DOI
  10.1038/s10038-024-01219-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024
- Author(s)
  Koshimizu E., Kato M., Misawa K., Uchiyama Y., Tsuchida N., Hamanaka K., Fujita A., Mizuguchi T., Miyatake S. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 153-157
- DOI
  10.1038/s10038-023-01217-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024
- Author(s)
  Sakamoto M., Kurosawa K., Tanoue K., Iwama K., Ishida F., Watanabe Y., Okamoto N., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 85-90
- DOI
  10.1038/s10038-023-01209-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A Novel Mutation of VPS13D-related Disorders with Parkinsonism2024
- Author(s)
  Harada S, Azuma Y, Misumi Y, Hayashi H, Matsubara S, Nakahara K, Miyatake S, Matsumoto N, Ueda M.
- Journal Title
  
  Intern. Med.
  
  Volume: 63 Issue: 18 Pages: 2551-2553
- DOI
  10.2169/internalmedicine.3101-23
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2024-09-15
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17307, KAKENHI-PROJECT-23K27520
[Journal Article] A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant2024
- Author(s)
  Ohashi Takuma、Kunimoto Hiroyoshi、Nukui Jun、Teshigawara Haruka、Koyama Satoshi、Miyazaki Takuya、Hagihara Maki、Matsumoto Kenji、Koshimizu Eriko、Tsuchida Naomi、Hamanoue Haruka、Miyatake Satoko、Yachie Akihiro、Matsumoto Naomichi、Nakajima Hideaki
- Journal Title
  
  International Journal of Hematology
  
  Volume: - Issue: 5 Pages: 603-607
- DOI
  10.1007/s12185-024-03751-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder2023
- Author(s)
  Miyake Noriko、Tsurusaki Yoshinori、Fukai Ryoko、Kushima Itaru...Takata Atsushi、Mizuguchi Takeshi、Ozaki Norio、Matsumoto Naomichi
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27-Mar Issue: 12 Pages: 1-8
- DOI
  10.1038/s41431-023-01335-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K16625, KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-19K17061, KAKENHI-PLANNED-20H05777
[Journal Article] 特徴的な脳波速波活動を認め臭化カリウムが有効であったGABRB3関連てんかんの1例2023
- Author(s)
  品川穣, 水野むつみ, 秋山麻里, 竹内章人, 板井俊幸, 宮武聡子, 松本直通, 加藤光広, 小林勝弘
- Journal Title
  
  脳と発達
  
  Volume: 55(3) Pages: 212-216
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports2023
- Author(s)
  Deguchi Koichi、Saka Ryuta、Todo Marie、Toyama Chiyoshi、Watanabe Miho、Masahata Kazunori、Kamiyama Masafumi、Tazuke Yuko、Nabatame Shin、Itai Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Okuyama Hiroomi
- Journal Title
  
  Asian Journal of Endoscopic Surgery
  
  Volume: 17 Issue: 1
- DOI
  10.1111/ases.13269
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes2023
- Author(s)
  Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N.
- Journal Title
  
  Sci Rep
  
  Volume: Mar 9;13(1) Issue: 1 Pages: 3954-3954
- DOI
  10.1038/s41598-023-30968-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions2023
- Author(s)
  Atsushi Fujita et al.
- Journal Title
  
  Acta Neuropathologica Communications
  
  Volume: 11 Issue: 1 Pages: 33-33
- DOI
  10.1186/s40478-023-01532-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K08236
[Journal Article] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  Mizuguchi T., Toyota T., Koshimizu E., Kameyama S., Fukuda H., Tsuchida N., Uchiyama Y., Hamanaka K., Fujita A., Misawa K., Miyatake S., Adachi H. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 12 Pages: 875-878
- DOI
  10.1038/s10038-023-01187-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-23K06976, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants2023
- Author(s)
  Kodama K, Aoyama H, Murakami Y, Takanashi JI, Koshimizu E, Miyatake S, Iwama K, Mizuguchi T, Matsumoto N, Omata T.
- Journal Title
  
  Radiol Case Rep
  
  Volume: Jan 12;18(3) Issue: 3 Pages: 1217-1220
- DOI
  10.1016/j.radcr.2022.11.033
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-19K08237
[Journal Article] 運動発達遅滞, 眼球上転発作で発症し, 反復する一過性片麻痺を呈し, CACNA1A遺伝子変異が同定された1例2023
- Author(s)
  齊木健人, 森雅人, 濱中耕平, 宮武聡子, 松本直通, 平本龍吾, 佐々木征行
- Journal Title
  
  小児科臨床
  
  Volume: 76(3) Pages: 391-394
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association2023
- Author(s)
  Seyama Rie、Nishikawa Masashi、Ogata Kazuhiro、Nagata Koh-ichi、Matsumoto Naomichi
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 9789-9789
- DOI
  10.1038/s41598-023-36381-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K19498, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K14946, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Association of biallelic RFC1 expansion with early‐onset Parkinson's disease2023
- Author(s)
  Ylikotila Pauli、Sipila Jussi、Alapirtti Tiina、Ahmasalo Riitta、Koshimizu Eriko、Miyatake Satoko、Hurme‐Niiranen Anri、Siitonen Ari、Doi Hiroshi、Tanaka Fumiaki、Matsumoto Naomichi、Majamaa Kari、Kytovuori Laura
- Journal Title
  
  European Journal of Neurology
  
  Volume: 30 Issue: 5 Pages: 1256-1261
- DOI
  10.1111/ene.15717
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-23K27520
[Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals2023
- Author(s)
  Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Miyatake S, Lupski JR, Houlden H, Matsumoto N.
- Journal Title
  
  Genet Med
  
  Volume: Jan;25(1) Issue: 1 Pages: 90-102
- DOI
  10.1016/j.gim.2022.09.010
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-ORGANIZER-21H05158
[Journal Article] Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia2023
- Author(s)
  Sugeno Naoto、Hasegawa Takafumi、Haginoya Kazuhiro、Kubota Takafumi、Ikeda Kensuke、Nakamura Takaaki、Ishiyama Shun、Sato Kazuki、Yoshida Shun、Koshimizu Eriko、Uematsu Mitsugu、Miyatake Satoko、Matsumoto Naomichi、Aoki Masashi
- Journal Title
  
  Molecular Syndromology
  
  Volume: 14 Issue: 6 Pages: 461-468
- DOI
  10.1159/000530625
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07862, KAKENHI-PROJECT-23K06823, KAKENHI-PROJECT-20K07896, KAKENHI-PROJECT-23K27520
[Journal Article] Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans2023
- Author(s)
  Hamanaka Kohei、Yamauchi Daisuke、Koshimizu Eriko、Watase Kei、Mogushi Kaoru、Ishikawa Kinya、Mizusawa Hidehiro、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Misawa Kazuharu、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Genome Research
  
  Volume: 33 Issue: 3 Pages: 435-447
- DOI
  10.1101/gr.277335.122
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias2023
- Author(s)
  Fukuda H., Mizuguchi T., Doi H., Kameyama S., Kunii M., Joki H., Takahashi T., Komiya H., Sasaki M., Miyaji Y., Ohori S., Koshimizu E., Uchiyama Y., Tsuchida N., Fujita A., Hamanaka K., Misawa K., Miyatake S., Tanaka F. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 10 Pages: 689-697
- DOI
  10.1038/s10038-023-01170-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A novel NONO variant that causes developmental delay and cardiac phenotypes2023
- Author(s)
  Itai T、Sugie A、Nitta Y、Maki R、Suzuki T、Shinkai Y、Watanabe Y、Nakano Y、Ichikawa K、Okamoto N、Utsuno Y、Koshimizu E、Fujita A、Hamanaka K、Uchiyama Y、Tsuchida N、Miyake N、Misawa K、Mizuguchi T、Miyatake S、Matsumoto N
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 975-975
- DOI
  10.1038/s41598-023-27770-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K06569, KAKENHI-PROJECT-21K15619, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-21H02837
[Journal Article] Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy2023
- Author(s)
  Ohori S., Miyauchi A., Osaka H., Lourenco C. M., Arakaki N., Sengoku T., Ogata K., Honjo R. S., Kim C. A., Mitsuhashi S., Frith M. C., Seyama R., Tsuchida N., Uchiyama Y., Koshimizu E., Hamanaka K., Misawa K., Miyatake S., Mizuguchi T., Saito K., Fujita A. and Matsumoto N.
- Journal Title
  
  Life Sci Alliance
  
  Volume: 6 Issue: 8 Pages: e202302025-e202302025
- DOI
  10.26508/lsa.202302025
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05161, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants2023
- Author(s)
  Inoue Yuta、Tsuchida Naomi、Okamoto Nobuhiko、Shuichi Shimakawa、Ohashi Kei、Saitoh Shinji、Ogawa Atsushi、Hamada Keisuke、Sakamoto Masamune、Miyake Noriko、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 103 Issue: 5 Pages: 590-595
- DOI
  10.1111/cge.14292
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality2023
- Author(s)
  Kawano Osamu、Saito Takashi、Sumitomo Noriko、Takeshita Eri、Shimizu-Motohashi Yuko、Nakagawa Eiji、Mizuma Kanako、Tanifuji Sachiko、Itai Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Takahashi Yuji、Mizusawa Hidehiro、Sasaki Masayuki
- Journal Title
  
  Brain and Development
  
  Volume: 45 Issue: 4 Pages: 231-236
- DOI
  10.1016/j.braindev.2022.12.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Associations of severity with biochemical parameters in glucose transporter 1 deficiency syndrome.2023
- Author(s)
  Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K
- Journal Title
  
  J Neurol Sci
  
  Volume: 447 Pages: 120597-120597
- DOI
  10.1016/j.jns.2023.120597
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07908, KAKENHI-PROJECT-22K15952, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-23K27520
[Journal Article] Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan2023
- Author(s)
  Mizushima Keiichi、Shibata Yuka、Shirai Shinichi、Matsushima Masaaki、Miyatake Satoko、Iwata Ikuko、Yaguchi Hiroaki、Matsumoto Naomichi、Yabe Ichiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 69 Issue: 1 Pages: 27-31
- DOI
  10.1038/s10038-023-01200-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Case series: Downbeat nystagmus in SCA27B2023
- Author(s)
  Shirai Shinichi、Mizushima Keiichi、Fujiwara Keishi、Koshimizu Eriko、Matsushima Masaaki、Miyatake Satoko、Iwata Ikuko、Yaguchi Hiroaki、Matsumoto Naomichi、Yabe Ichiro
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 454 Pages: 120849-120849
- DOI
  10.1016/j.jns.2023.120849
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27520
[Journal Article] Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism2023
- Author(s)
  R. Seyama, Y. Uchiyama, Y. Kaneshi, K. Hamanaka, A. Fujita, N. Tsuchida, E. Koshimizu, K. Misawa, S. Miyatake, T. Mizuguchi, S. Makino, A. Itakura, N. Okamoto and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 5 Pages: 363-367
- DOI
  10.1038/s10038-022-01117-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers2023
- Author(s)
  Wada Taishi、Doi Hiroshi, et al.
- Journal Title
  
  Annals of Neurology
  
  Volume: 95 Issue: 3 Pages: 607-613
- DOI
  10.1002/ana.26848
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-22K15041, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-23K27520
[Journal Article] De novo heterozygous variants in KIF5B cause kyphomelic dysplasia2022
- Author(s)
 Itai Toshiyuki、Wang Zheng、Nishimura Gen、Ohashi Hirofumi、Guo Long、Wakano Yasuhiro、Sugiura Takahiro、Hayakawa Hiromi、Okada Mayumi、Saisu Takashi、Kitta Ayana、Doi Hiroshi、Kurosawa Kenji、Hotta Yoshihiro、Hosono Katsuhiro、Sato Miho、他
- Journal Title
 
 Clinical Genetics
 
 Volume: 102 Issue: 1 Pages: 3-11
- DOI
 10.1111/cge.14133
- Peer Reviewed / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy2022
- Author(s)
  Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Matsumoto N, Baig SM, Klar J, Dahl N.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 109 Issue: 3 Pages: 542-546
- DOI
  10.1016/j.ajhg.2022.02.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022
- Author(s)
  Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
- Journal Title
  
  npj Genomic Medicine
  
  Volume: 7 Issue: 1 Pages: 62-62
- DOI
  10.1038/s41525-022-00331-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology2022
- Author(s)
  Tsujikawa K,Hamanaka K, Riku Y, Hattori Y, Hara N, Iguchi Y,Miyata T, Sobue G, Matsumoto N, Sahashi K, Katsuno M, et al.
- Journal Title
  
  Sci Adv
  
  Volume: - Issue: 21 Pages: 1-16
- DOI
  10.1126/sciadv.abm5029
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00527, KAKENHI-PROJECT-22K19506, KAKENHI-PUBLICLY-21H05624, KAKENHI-PROJECT-20H00525, KAKENHI-PROJECT-20H03589, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-21K15330, KAKENHI-PUBLICLY-21H00446, KAKENHI-PROJECT-22H04923, KAKENHI-PROJECT-23K21410, KAKENHI-PROJECT-21H03537
[Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype2022
- Author(s)
  Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
- Journal Title
  
  Genomics
  
  Volume: 114 Issue: 5 Pages: 110469-110469
- DOI
  10.1016/j.ygeno.2022.110469
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Monogenic causes of pigmentary mosaicism2022
- Author(s)
  Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 11 Pages: 1771-1784
- DOI
  10.1007/s00439-022-02437-w
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Polymicrogyria in a child with KCNMA1-related channelopathy2022
- Author(s)
  Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B.
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 2 Pages: 173-177
- DOI
  10.1016/j.braindev.2021.09.009
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K07907
[Journal Article] A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode2022
- Author(s)
  Marafi Dana、Kozar Nina、Duan Ruizhi, ... Mitsuhiro Kato, et al.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 109 Issue: 9 Pages: 1713-1723
- DOI
  10.1016/j.ajhg.2022.07.006
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K07907
[Journal Article] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome2022
- Author(s)
  Miyatake S, Yoshida K, Koshimizu E, others, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N.
- Journal Title
  
  Brain
  
  Volume: 145 Issue: 3 Pages: 1139-1150
- DOI
  10.1093/brain/awab363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K24308
[Journal Article] Distal 2q duplication in a patient with intellectual disability2022
- Author(s)
  Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: Nov 10;9(1) Issue: 1 Pages: 39-39
- DOI
  10.1038/s41439-022-00215-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing2022
- Author(s)
  Arai Yuto、Okanishi Tohru、Kanai Sotaro、Okazaki Tetsuya、Koshimizu Eriko、Miyatake Satoko、Maeoka Yukinori、Fujimoto Ayataka、Matsumoto Naomichi、Maegaki Yoshihiro
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 10 Pages: 732-736
- DOI
  10.1016/j.braindev.2022.07.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907
[Journal Article] Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication2022
- Author(s)
  Masuda T, Osaka H, Tsuchida N, Miyatake S, Nishimura K, Takenouchi T, Takahashi T, Matsumoto N, Yamagata T.
- Journal Title
  
  Epilepsy Behav Rep
  
  Volume: Apr 25;19 Pages: 100547-100547
- DOI
  10.1016/j.ebr.2022.100547
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy2022
- Author(s)
  Sakamoto M et al, Saitoh Sは30番目
- Journal Title
  
  Genetics in Medicine
  
  Volume: 24 Issue: 12 Pages: 2453-2463
- DOI
  10.1016/j.gim.2022.08.007
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K21501, KAKENHI-PROJECT-23K24308
[Journal Article] A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene2022
- Author(s)
 Hara K, Ouchi H, Hamanaka K, Miyatake S, Matsumoto N.
- Journal Title
 
 Rinsho Shinkeigaku
 
 Volume: 62 Issue: 11 Pages: 856-859
- DOI
 10.5692/clinicalneurol.cn-001773
- ISSN
 0009-918X, 1882-0654
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-20K07907
[Journal Article] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome2022
- Author(s)
  Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: Sep;114(5) Issue: 5 Pages: 110468-110468
- DOI
  10.1016/j.ygeno.2022.110468
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907
[Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant2022
- Author(s)
  Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 2 Pages: 283-293
- DOI
  10.1007/s00439-021-02416-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17936
[Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.2022
- Author(s)
  Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
- Journal Title
  
  Genome Med
  
  Volume: 14 Issue: 1 Pages: 40-40
- DOI
  10.1186/s13073-022-01042-w
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PLANNED-20H05777
[Journal Article] Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease2022
- Author(s)
  Kytovuori Laura、Sipila Jussi、Doi Hiroshi、Hurme-Niiranen Anri、Siitonen Ari、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Tanaka Fumiaki、Majamaa Kari
- Journal Title
  
  npj Parkinson's Disease
  
  Volume: 8 Issue: 1 Pages: 6-6
- DOI
  10.1038/s41531-021-00275-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-21K07298
[Journal Article] Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome2022
- Author(s)
  Otsuji Shiomi、Nishio Yosuke、Tsujita Maki、Rio Marlene、Huber Celine、Anton-Plagaro Carlos、Mizuno Seiji、Kawano Yoshihiko、Miyatake Satoko、Simon Marleen、van Binsbergen Ellen、van Jaarsveld Richard H、Matsumoto Naomichi、Cormier-Daire Valerie、J.Cullen Peter、Saitoh Shinji、Kato Kohji
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 60 Issue: 4 Pages: 359-367
- DOI
  10.1136/jmg-2022-108602
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K08631, KAKENHI-PROJECT-19K23823, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-23K14945, KAKENHI-PROJECT-23KJ1817, KAKENHI-PROJECT-23K27520
[Journal Article] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms2021
- Author(s)
  Seyama Rie、Tsuchida Naomi、Okada Yasuyuki、Sakata Sonoko、Hamada Keisuke、Azuma Yoshiteru、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Makino Shintaro、Itakura Atsuo、Okada Satoshi、Okamoto Nobuhiko、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 3 Pages: 157-164
- DOI
  10.1038/s10038-021-00986-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051
[Journal Article] Progressive cerebral atrophies in three children with COL4A1 mutations2021
- Author(s)
  Nakamura Yuko、Okanishi Tohru、Yamada Hiroyuki、Okazaki Tetsuya、Hosoda Chika、Itai Toshiyuki、Miyatake Satoko、Saitsu Hirotomo、Matsumoto Naomichi、Maegaki Yoshihiro
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 10 Pages: 1033-1038
- DOI
  10.1016/j.braindev.2021.06.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Novel CLTC variants cause new brain and kidney phenotypes2021
- Author(s)
  Itai Toshiyuki、Miyatake Satoko、Tsuchida Naomi、Saida Ken、Narahara Sho、Tsuyusaki Yu、Castro Matheus Augusto Araujo、Kim Chong Ae、Okamoto Nobuhiko、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 1 Pages: 1-7
- DOI
  10.1038/s10038-021-00957-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing2021
- Author(s)
  Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: 113 Issue: 1 Pages: 1044-1053
- DOI
  10.1016/j.ygeno.2020.10.038
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[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] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction2021
- Author(s)
  den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, HB, Itai T, Jackson A, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Kleefstra T, Reymond A, Fisher SE, Vissers LELM et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 108 Issue: 2 Pages: 346-356
- DOI
  10.1016/j.ajhg.2021.01.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021
- Author(s)
  Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 42 Issue: 1 Pages: 66-76
- DOI
  10.1002/humu.24130
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice2021
- Author(s)
  Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
- Journal Title
  
  Nat Commun
  
  Volume: 12 Issue: 1 Pages: 2107-2107
- DOI
  10.1038/s41467-021-22389-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-19H01091, KAKENHI-PUBLICLY-21H05687, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
[Journal Article] A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant2021
- Author(s)
  Shibuya Moriei、Uneoka Saki、Onuma Akira、Kodama Kaori、Endo Wakaba、Okubo Yukimune、Inui Takehiko、Togashi Noriko、Nakashima Ichiro、Hino-Fukuyo Naomi、Ida Hiroyuki、Miyatake Satoko、Matsumoto Naomichi、Haginoya Kazuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 10 Pages: 1029-1032
- DOI
  10.1016/j.braindev.2021.06.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment.2021
- Author(s)
  Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
- Journal Title
  
  Brain
  
  Volume: 144 Issue: 4 Pages: 1103-1117
- DOI
  10.1093/brain/awab021
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07970, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K15704
[Journal Article] Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia2021
- Author(s)
  Kitayama Kana、Ishiguro Tomoya、Komiyama Masaki、Morisaki Takayuki、Morisaki Hiroko、Minase Gaku、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Kato Masaru、Takahashi Toru、Yorifuji Tohru
- Journal Title
  
  BMC Medical Genomics
  
  Volume: 14 Issue: 1
- DOI
  10.1186/s12920-021-01139-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation2021
- Author(s)
  Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
- Journal Title
  
  Front Cell Dev Biol.
  
  Volume: 9 Pages: 631428-631428
- DOI
  10.3389/fcell.2021.631428
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-20H00539
[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
- Journal Title
  
  Science Advances
  
  Volume: 7 Issue: 13 Pages: 2368-2368
- DOI
  10.1126/sciadv.abd2368
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K06893, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K22601, KAKENHI-PROJECT-18K15677, KAKENHI-PUBLICLY-19H04795, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03438, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-20H03270, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K19413
[Journal Article] Cerebrovascular diseases in two patients with entire NSD1 deletion2021
- Author(s)
  Itai Toshiyuki、Miyatake Satoko、Hatano Taku、Hattori Nobutaka、Ohno Atsuko、Aoki Yusuke、Itomi Kazuya、Mori Harushi、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1
- DOI
  10.1038/s41439-021-00151-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy2021
- Author(s)
  Saida Ken et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 100 Issue: 6 Pages: 722-730
- DOI
  10.1111/cge.14066
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-21H05158, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21J11172, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] Expanding the KIF4A‐associated phenotype2021
- Author(s)
  Kalantari Silvia、Carlston Colleen、Alsaleh Norah、Kato Mitsuhiro、Matsumoto Naomichi、Miyatake Satoko、Yamamoto Tatsuya、Dobyns William B.、Filges Isabel
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 185 Issue: 12 Pages: 3728-3739
- DOI
  10.1002/ajmg.a.62443
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
[Journal Article] Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features2021
- Author(s)
  Kameyama Shinichi、Mizuguchi Takeshi、Fukuda Hiromi、Moey Lip Hen、Keng Wee Teik、Okamoto Nobuhiko、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 3 Pages: 169-173
- DOI
  10.1038/s10038-021-00978-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164
[Journal Article] De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality2021
- Author(s)
 Sakamoto M、Sasaki K、Sugie A、Nitta Y、Kimura T、G?rsoy S、Cinleti T、Iai M、Sengoku T、Ogata K、Suzuki A、Okamoto N、Iwama K、Tsuchida N、Uchiyama Y、Koshimizu E、Fujita A、Hamanaka K、Miyatake S、Mizuguchi T、Taguri M、Ito S、Takahashi H、Miyake N、Matsumoto N
- Journal Title
 
 Human Molecular Genetics
 
 Volume: 31 Issue: 1 Pages: 69-81
- DOI
 10.1093/hmg/ddab224
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-18K14835, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K15619, KAKENHI-ORGANIZER-21H05158
[Journal Article] Novel variants of ABCC9 in Japanese children with Cant? syndrome2020
- Author(s)
  Kubota Kazuo、Yamamoto Takahiro、Miyatake Satoko、Matsumoto Naomichi、Fukao Toshiyuki
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 3 Pages: 410-412
- DOI
  10.1111/ped.14098
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Clinical and genetic characteristics of patients with Doose syndrome2020
- Author(s)
  Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
- Journal Title
  
  Epilepsia Open
  
  Volume: 5 Issue: 3 Pages: 442-450
- DOI
  10.1002/epi4.12417
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[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] SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation2020
- Author(s)
  Zaman T, Helbig KL, Clatot J, Fujiwara Y, Miyatake S, Ben-Zeev B, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM et al.
- Journal Title
  
  Ann Neurol
  
  Volume: 88 Issue: 2 Pages: 348-362
- DOI
  10.1002/ana.25809
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] A 2‐year‐old patient with a diffuse intrinsic pontine glioma and radiation‐induced moyamoya syndrome.2020
- Author(s)
  Iizuka A, Shiba N, Shimosato Y, Yoshitomi M, Nakamura T, Miyatake S, Takano Y, Sasaki K, Takeuchi M, Nurata H, Yamamoto N, Ito S.
- Journal Title
  
  Pediatric Blood & Cancer
  
  Volume: 67 Issue: 10
- DOI
  10.1002/pbc.28618
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08350, KAKENHI-PROJECT-20K07907
[Journal Article] Phenotype?genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms2020
- Author(s)
  Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 2 Pages: 199-204
- DOI
  10.1016/j.braindev.2019.10.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-18K19305
[Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020
- Author(s)
  Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
- Journal Title
  
  Human Mutation
  
  Volume: 42 Issue: 1 Pages: 50-65
- DOI
  10.1002/humu.24129
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-18K07865
[Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020
- Author(s)
  Miyake Noriko et al., Matsumoto Naomichi
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106 Issue: 1 Pages: 13-25
- DOI
  10.1016/j.ajhg.2019.11.011
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-19H03774, KAKENHI-PROJECT-18H02378, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K22401
[Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia2020
- Author(s)
  Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: 7 Issue: 1 Pages: 43-43
- DOI
  10.1038/s41439-020-00131-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K17307, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020
- Author(s)
  Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
- Journal Title
  
  J Med Genet
  
  Volume: 0 Issue: 8 Pages: 106896-106896
- DOI
  10.1136/jmedgenet-2020-106896
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K16577
[Journal Article] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy2020
- Author(s)
  Hamanaka Kohei、Imagawa Eri、Koshimizu Eriko、Miyatake Satoko、Tohyama Jun、Yamagata Takanori、Miyauchi Akihiko、Ekhilevitch Nina、Nakamura Fumio、Kawashima Takeshi、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi et al.,
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106(4) Issue: 4 Pages: 549-558
- DOI
  10.1016/j.ajhg.2020.02.011
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03641
[Journal Article] Epilepsy in Christianson syndrome: Two cases of Lennox?Gastaut syndrome and a review of literature2020
- Author(s)
  Ikeda Azusa、Yamamoto Ayako、Ichikawa Kazushi、Tsuyusaki Yu、Tsuji Megumi、Iai Mizue、Enomoto Yumi、Murakami Hiroaki、Kurosawa Kenji、Miyatake Satoko、Matsumoto Naomichi、Goto Tomohide
- Journal Title
  
  Epilepsy & Behavior Reports
  
  Volume: 13 Pages: 100349-100349
- DOI
  10.1016/j.ebr.2019.100349
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report2020
- Author(s)
  Ogasawara M, Nakagawa E, Takeshita E, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.
- Journal Title
  
  Mol Syndromol
  
  Volume: 11 Issue: 4 Pages: 232-237
- DOI
  10.1159/000510172
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report2020
- Author(s)
  Yotsumoto Y, Harada A, Tsugawa J, Ikura Y, Utsunomiya H, Miyatake S, Matsumoto N, Kanemura Y, Hashimoto-Tamaoki T.
- Journal Title
  
  Mol Clin Oncol
  
  Volume: 12 Pages: 329-335
- DOI
  10.3892/mco.2020.1988
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K07907
[Journal Article] Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil2020
- Author(s)
  Ohko Kentaro、Nakajima Kimiko、Nakajima Hideki、Hiraki Yoko、Kubota Kazuo、Fukao Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Sano Shigetoshi
- Journal Title
  
  The Journal of Dermatology
  
  Volume: 47 Issue: 3 Pages: 306-310
- DOI
  10.1111/1346-8138.15216
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Effect of total callosotomy on KCNQ2-related intractable epilepsy2020
- Author(s)
  Yamamoto A, Saito Y, Oyama Y, Watanabe Y, Ikeda A, Takayama R, Ikeda H, Takeshita S, Takumi I, Itai T, Miyatake S, Matsumoto N.
- Journal Title
  
  Brain Dev
  
  Volume: 42 Issue: 8 Pages: 612-616
- DOI
  10.1016/j.braindev.2020.05.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907
[Journal Article] The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A2019
- Author(s)
  Kibe Tetsuya、Hasegawa Hiroshi、Ichida Kimiyoshi、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Yokochi Kenji、Yoshimura Ayumi
- Journal Title
  
  Neuropediatrics
  
  Volume: - Issue: 02 Pages: 126-129
- DOI
  10.1055/s-0039-1677869
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539
[Journal Article] Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation2019
- Author(s)
  Ishikawa Nobutsune、Tateishi Yuichi、Tani Hiroo、Kobayashi Yoshiyuki、Itai Toshiyuki、Miyatake Satoko、Kato Mitsuhiro、Matsumoto Naomichi、Kobayashi Masao
- Journal Title
  
  Seizure
  
  Volume: 71 Pages: 20-23
- DOI
  10.1016/j.seizure.2019.05.024
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[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] Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome2019
- Author(s)
  Aoi Hiromi et al., Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 10 Pages: 967-978
- DOI
  10.1038/s10038-019-0643-z
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019
- Author(s)
  Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Neurology
  
  Volume: 93 Issue: 3
- DOI
  10.1212/wnl.0000000000007774
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report2019
- Author(s)
  Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  BMC Neurology
  
  Volume: 19 Issue: 1 Pages: 253-253
- DOI
  10.1186/s12883-019-1489-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
[Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP12019
- Author(s)
  Saida Ken、Kim Chong Ae、Ceroni Jos? Ricardo Magliocco、Bertola Debora Romeo、Honjo Rachel Sayuri、Mitsuhashi Satomi、Takata Atsushi、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 9 Pages: 885-890
- DOI
  10.1038/s10038-019-0626-0
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease2019
- Author(s)
  Tsuchida Naomi、Kirino Yohei、Soejima Yutaro、Onodera Masafumi、Arai Katsuhiro、Tamura Eiichiro、Ishikawa Takashi、Kawai Toshinao、Uchiyama Toru、Nomura Shigeru、Kobayashi Daisuke、Taguri Masataka、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Nakajima Hideaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Arthritis Research & Therapy
  
  Volume: 21 Issue: 1 Pages: 137-137
- DOI
  10.1186/s13075-019-1928-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-19H03700, KAKENHI-PROJECT-19K08312
[Journal Article] A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy2019
- Author(s)
  Oguni Hirokazu、Nishikawa Aiko、Sato Yu、Otani Yui、Ito Susumu、Nagata Satoru、Kato Mitsuhiro、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Epilepsy Research
  
  Volume: 155 Pages: 106149-106149
- DOI
  10.1016/j.eplepsyres.2019.06.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration2019
- Author(s)
  Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 印刷中 Issue: 14 Pages: 2319-2329
- DOI
  10.1093/hmg/ddz066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing2019
- Author(s)
  Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 5 Pages: 359-368
- DOI
  10.1038/s10038-019-0569-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539
[Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE212019
- Author(s)
  Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 347-350
- DOI
  10.1038/s10038-018-0556-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing2019
- Author(s)
  Hirasawa-Inoue Ayaka、Ishiyama Akihiko、Takeshita Eri、Shimizu-Motohashi Yuko、Saito Takashi、Komaki Hirofumi、Nakagawa Eiji、Yuasa Shota、Saitsu Hirotomo、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Sasaki Masayuki
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 10 Pages: 905-909
- DOI
  10.1016/j.braindev.2019.06.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing2019
- Author(s)
  Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 11 Pages: 1107-1116
- DOI
  10.1038/s10038-019-0654-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads2019
- Author(s)
  Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
- Journal Title
  
  Genome Biology
  
  Volume: 20 Issue: 1 Pages: 58-58
- DOI
  10.1186/s13059-019-1667-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09683, KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant2019
- Author(s)
  Uchiyama Yuri、Kim Chong A、Pastorino Antonio Carlos、Ceroni Jos?、Lima Patricia Picciarelli、de Barros Dorna Mayra、Honjo Rachel Sayuri、Bertola D?bora、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 9 Pages: 955-960
- DOI
  10.1038/s10038-019-0631-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases2019
- Author(s)
  Murakami Yoshiko, et al., Matsumoto Naomichi, et al., Campeau Philippe M.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 105 Issue: 2 Pages: 384-394
- DOI
  10.1016/j.ajhg.2019.05.019
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H04753, KAKENHI-PROJECT-17K10080, KAKENHI-PLANNED-17H06422
[Journal Article] GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy2019
- Author(s)
  Okubo Masaki、Doi Hiroshi、et al.
- Journal Title
  
  Annals of Neurology
  
  Volume: 86 Issue: 6 Pages: 962-968
- DOI
  10.1002/ana.25586
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15459, KAKENHI-PROJECT-18K15460
[Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)2019
- Author(s)
  Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
- Journal Title
  
  Seizure
  
  Volume: 65 Pages: 118-123
- DOI
  10.1016/j.seizure.2019.01.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07865
[Journal Article] Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation.2019
- Author(s)
  Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S,Matsumoto N, Fujii Y.
- Journal Title
  
  World Neurosurg.
  
  Volume: 印刷中 Pages: 446-450
- DOI
  10.1016/j.wneu.2019.04.156
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080
[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy2019
- Author(s)
  Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Nature Communications
  
  Volume: 10 Issue: 1 Pages: 2506-2506
- DOI
  10.1038/s41467-019-10482-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07865
[Journal Article] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 422019
- Author(s)
  Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, （32名略） Ishikawa T, Tanaka F
- Journal Title
  
  Neurobiology of Disease
  
  Volume: 130 Pages: 104516-104516
- DOI
  10.1016/j.nbd.2019.104516
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K17014, KAKENHI-PUBLICLY-18H04937, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02540, KAKENHI-PROJECT-17K07064, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K15460
[Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy2019
- Author(s)
  Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 8 Pages: 821-827
- DOI
  10.1038/s10038-019-0617-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients2019
- Author(s)
  Sekiguchi Futoshi et al., Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 12 Pages: 1173-1186
- DOI
  10.1038/s10038-019-0667-4
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images ? A first case of CLCN2-related leukoencephalopathy in Japan2019
- Author(s)
  Hoshi Miyuki、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Imamura Atsushi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 1 Pages: 101-105
- DOI
  10.1016/j.braindev.2018.07.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539
[Journal Article] Novel SUZ12 mutations in Weaver-like syndrome2018
- Author(s)
  Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 5 Pages: 461-466
- DOI
  10.1111/cge.13415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy2018
- Author(s)
  Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Mutation
  
  Volume: 39 Issue: 8 Pages: 1070-1075
- DOI
  10.1002/humu.23550
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel2018
- Author(s)
  Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
- Journal Title
  
  Clinical Genetics
  
  Volume: - Issue: 2 Pages: 232-238
- DOI
  10.1111/cge.13371
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-17H01539
[Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum2018
- Author(s)
  Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 3-4 Pages: 362-367
- DOI
  10.1111/cge.13385
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy2018
- Author(s)
  Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 538-547
- DOI
  10.1111/cge.13454
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome2018
- Author(s)
  Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 814-828
- DOI
  10.1002/ana.25370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H06994
[Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 12 Pages: 1223-1229
- DOI
  10.1038/s10038-018-0516-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease2018
- Author(s)
  Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 843-853
- DOI
  10.1002/ana.25367
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia2018
- Author(s)
  Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 10 Pages: 1049-1054
- DOI
  10.1038/s10038-018-0488-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
- Journal Title
  
  Genetics in Medicine
  
  Volume: - Issue: 7 Pages: 1629-1638
- DOI
  10.1038/s41436-018-0360-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-18K15370
[Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases2018
- Author(s)
  Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 3 Pages: 191-197
- DOI
  10.1038/s10038-018-0551-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PUBLICLY-17H05708, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-19K07970
[Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria2018
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 1 Pages: 159-161
- DOI
  10.1002/ana.25256
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies2018
- Author(s)
  Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
- Journal Title
  
  The Cerebellum
  
  Volume: 印刷中 Issue: 5 Pages: 525-530
- DOI
  10.1007/s12311-018-0941-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539
[Journal Article] PEX10-related autosomal recessive cerebellar ataxia with hearing loss2018
- Author(s)
  Kaya Ozcora GD、Miyatake Satoko、Matsumoto Naomichi、Canpolat Mehmet、Erdogan Murat、Bayramov Ruslan、Kumandas Sefer
- Journal Title
  
  Acta Neurologica Belgica
  
  Volume: - Issue: 2 Pages: 429-432
- DOI
  10.1007/s13760-018-0987-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080
[Journal Article] SOFT syndrome in a patient from Chile2018
- Author(s)
  Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 3 Pages: 338-340
- DOI
  10.1002/ajmg.a.61015
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia2018
- Author(s)
  Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 548-553
- DOI
  10.1111/cge.13423
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07809, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales2018
- Author(s)
  Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 2 Pages: 274-275
- DOI
  10.1111/cge.13369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies2018
- Author(s)
  Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27 Issue: 3 Pages: 378-383
- DOI
  10.1038/s41431-018-0289-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
- Author(s)
  Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
- Journal Title
  
  Human Mutation
  
  Volume: 印刷中 Issue: 6 Pages: 637-648
- DOI
  10.1002/humu.23200
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H06533, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05198, KAKENHI-PROJECT-16H05357
[Journal Article] A severe pulmonary complication in a patient with COL4A1-related disorder2017
- Author(s)
  Abe Y, Matsuduka A, Okanari K, Miyahara H, Kato M, Miyatake S, Saitsu H, Matsumoto N, Tomoki M, Ihara K
- Journal Title
  
  Eur J Med Genet
  
  Volume: 60 Issue: 3 Pages: 169-171
- DOI
  10.1016/j.ejmg.2016.12.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591515, KAKENHI-PROJECT-26461549
[Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions2017
- Author(s)
  Miyatake Satoko、Koshimizu Eriko、Shirai Ikuko、Kumada Satoko、Nakata Yasuhiro、Kamemaru Aiko、Nakashima Mitsuko、Mizuguchi Takeshi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Movement Disorders
  
  Volume: 33 Issue: 1 Pages: 177-179
- DOI
  10.1002/mds.27219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder2017
- Author(s)
  Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 5 Pages: 525-529
- DOI
  10.1038/jhg.2016.163
- NAID
  40021210259
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H03293
[Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy2017
- Author(s)
  Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 99 Issue: 4 Pages: 950-961
- DOI
  10.1016/j.ajhg.2016.08.005
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-15H04375, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26293214, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26460373, KAKENHI-PROJECT-26461549, KAKENHI-PLANNED-24118002
[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 100 Issue: 1 Pages: 169-178
- DOI
  10.1016/j.ajhg.2016.11.017
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H03293
[Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.2017
- Author(s)
  Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
- Journal Title
  
  EMBOJ
  
  Volume: 36 Issue: 9 Pages: 1227-1242
- DOI
  10.15252/embj.201695630
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H04765, KAKENHI-PROJECT-14J07589, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K15069, KAKENHI-PROJECT-16K07001, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-15K09344
[Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017
- Author(s)
  Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 印刷中 Issue: 8 Pages: 741-746
- DOI
  10.1038/jhg.2017.24
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.2017
- Author(s)
  Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: - Issue: 2 Pages: 180-187
- DOI
  10.1111/cge.12991
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-16K09665, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357
[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
- Author(s)
  Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170 Issue: 10 Pages: 2662-2670
- DOI
  10.1002/ajmg.a.37778
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016
- Author(s)
  Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 98 Pages: 615-626
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461549
[Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.2016
- Author(s)
  Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 30072-30072
- DOI
  10.1038/srep30072
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-16K08523, KAKENHI-INTERNATIONAL-15K21731
[Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.2016
- Author(s)
  Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
- Journal Title
  
  Ann Clin Transl Neurol.
  
  Volume: 24 Issue: 5 Pages: 356-65
- DOI
  10.1002/acn3.300
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] Vein of Galen Aneurysmal malformation in monozygotic twin2016
- Author(s)
  Komiyama M, Miyatake M Watanabe Y, Terada A, Ishiguro T, Ichiba H, Matsumoto M
- Journal Title
  
  World Neurosurg
  
  Volume: 91:672 Pages: 672.e11-672.e15
- DOI
  10.1016/j.wneu.2016.04.031
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461549
[Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 1 Issue: 4 Pages: 124-124
- DOI
  10.1038/jhg.2014.124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).2015
- Author(s)
  Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Issue: 1 Pages: 15015-15015
- DOI
  10.1038/hgv.2015.12
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-26461549, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015
- Author(s)
  Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
- Journal Title
  
  JAMA Neurology
  
  Volume: 72 Issue: 7 Pages: 797-805
- DOI
  10.1001/jamaneurol.2015.0610
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09335, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-221S0002, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25461287
[Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015
- Author(s)
  Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 97(4) Issue: 4 Pages: 555-566
- DOI
  10.1016/j.ajhg.2015.08.013
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461246, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-26293203
[Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015
- Author(s)
  Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
- Journal Title
  
  Sci Rep
  
  Volume: 5 Issue: 1 Pages: 15199-15199
- DOI
  10.1038/srep15199
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-15H05871
[Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.2015
- Author(s)
  Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 60 Issue: 12 Pages: 739-42
- DOI
  10.1038/jhg.2015.108
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25860854, KAKENHI-PROJECT-25293235
[Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel2014
- Author(s)
  Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
- Journal Title
  
  Hum Mol Genet
  
  Volume: 24（3） Issue: 3 Pages: 637-648
- DOI
  10.1093/hmg/ddu477
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25670149, KAKENHI-PROJECT-26461549, KAKENHI-PLANNED-24118007
[Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated2014
- Author(s)
  Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
- Journal Title
  
  Neurology
  
  Volume: 82(24) Issue: 24 Pages: 2230-7
- DOI
  10.1212/wnl.0000000000000535
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549
[Journal Article] ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing.2014
- Author(s)
  Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 10 Pages: 589-590
- DOI
  10.1038/jhg.2014.75
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014
- Author(s)
  Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
- Journal Title
  
  Sci Rep
  
  Volume: 4 Issue: 1 Pages: 7132-7132
- DOI
  10.1038/srep07132
- NAID
  120007100602
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293207, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25461287, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26440105, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670445
[Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014
- Author(s)
  Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
- Journal Title
  
  Neuromuscul Disord
  
  Volume: 24（7） Issue: 7 Pages: 642-647
- DOI
  10.1016/j.nmd.2014.04.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014
- Author(s)
  Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
- Journal Title
  
  Nat Commun
  
  Volume: 5 Issue: 1 Pages: 4011-4011
- DOI
  10.1038/ncomms5011
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26860816
[Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2014
- Author(s)
  Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
- Journal Title
  
  Clin Genet
  
  Volume: 87（4） Issue: 4 Pages: 395-397
- DOI
  10.1111/cge.12455
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] Clinical exome sequencing in neurology practice2014
- Author(s)
  Miyatake S,Matsumoto N.
- Journal Title
  
  Nat Rev Neurol
  
  Volume: 10（12） Issue: 12 Pages: 676-678
- DOI
  10.1038/nrneurol.2014.213
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-26461549
[Patent] リピート伸長病の検出方法2023
- Inventor(s)
  松本直通、宮武聡子、輿水江里子、藤田京志
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2023-184169
- Filing Date
  2023
- Data Source
  KAKENHI-PROJECT-23K27520
[Patent] 脳小血管病の確定診断法2018
- Inventor(s)
  松本直通、宮武聡子
- Industrial Property Rights Holder
  松本直通、宮武聡子
- Industrial Property Rights Type
  特許
- Filing Date
  2018
- Data Source
  KAKENHI-PROJECT-17K10080
[Patent] ネマリンミオパチーの確定診断法2016
- Inventor(s)
  宮武聡子、松本直通
- Industrial Property Rights Holder
  宮武聡子、松本直通
- Industrial Property Rights Type
  特許
- Filing Date
  2016-12-06
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] CANVASにおけるリピート配列の多様性2023
- Author(s)
  宮武聡子
- Organizer
  第64回日本神経学会学術大会（シンポジウム26）
- Data Source
  KAKENHI-PROJECT-23K27520
[Presentation] Rapid screening of repeat expansion diseases using nanopore sequencer2023
- Author(s)
  宮武聡子
- Organizer
  第64回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-23K27520
[Presentation] CANVASはrepeat conformation heterogeneityを有する2022
- Author(s)
  宮武聡子
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] Cerebellar ataxia, neuropathy, vestibular areflexia syndrome has repeat conformation heterogeneity2022
- Author(s)
  宮武聡子
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] 教育コース08: 神経内科医が知っておきたい小児神経2022
- Author(s)
  宮武聡子
- Organizer
  第63回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] ホットトピックス06: 小児神経疾患の分子機構最前線～成人との懸け橋2022
- Author(s)
  宮武聡子
- Organizer
  第63回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] 希少疾患・ミオパチーなどのゲノム研究(シンポジウム44:孤発性・家族性神経疾患のゲノム研究)2021
- Author(s)
  宮武聡子
- Organizer
  第62回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] Polymicrogyria as a novel ATP1A3-related phenotype.2021
- Author(s)
  Miyatake S, Kato M, Koshimizu E, Takeuchi H, Doi H, Nakashima M, Takata A, Hamanaka K, Mizuguchi T, Miyake N, Saitsu H, Tanaka F, and Matsumoto N
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] The de novo hotspot variant in SCN3A cause polymicrogyria: report of patients and literature review2020
- Author(s)
  Miyatake S， Kato M， Matsumoto M
- Organizer
  第61回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] シンポジウム12:脳形成の新たな分子機構と小児神経疾患イオンチャネルと脳形成異常2020
- Author(s)
  宮武聡子
- Organizer
  第62回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome2020
- Author(s)
  Miyatake S
- Organizer
  日本人類遺伝学会第65回大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] 教育セッション3「遺伝性疾患の分子生物学的理解」2020
- Author(s)
  宮武聡子
- Organizer
  日本人類遺伝学会第65回大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K07907
[Presentation] 脳小血管病の新たな疾患責任遺伝子 COL4A1/COL4A22019
- Author(s)
  宮武聡子
- Organizer
  第37回日本神経治療学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] Biallelic COLGALT1 variants as a novel genetic cause of cerebral small vessel disease2019
- Author(s)
  Satoko Miyatake,Norihisa Koyama, Kenji Yokochi, Kayo Ohmura, Eriko Koshimizu, Yuri Uchiyama, Hiroshi Doi, Hideyuki Takeuchi, Satomi Mitsuhashi, Mitsuko Nakashima, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] 次世代シーケンサーを用いたコピー数解析2019
- Author(s)
  宮武聡子
- Organizer
  第26回臨床細胞遺伝学セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] 女性医師、研究者のキャリアパスについて2018
- Author(s)
  宮武聡子
- Organizer
  第63回日本人類遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.2018
- Author(s)
  Satoko Miyatake, Ikuko Shirai, Satoko Kumada, Yasuhiro Nakata, Naomichi Matsumoto
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] MYPN関連ミオパチー.2018
- Author(s)
  宮武聡子
- Organizer
  日本小児神経学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] ネマリンミオパチーの遺伝学的研究.2018
- Author(s)
  宮武聡子
- Organizer
  第59回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] The de novo hotspot variant in SCN3A in patients accompanying polymicrogyria2018
- Author(s)
  Satoko Miyatake, Mitsuhiro Kato, Yukio Sawaishi, Takashi Saito, Naomichi Matsumoto
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] ミオパチーのエキソーム解析2017
- Author(s)
  宮武聡子
- Organizer
  第94回日本生理学会大会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  宮武聡子、三橋　里美、林　由起子、西川　敦子、鈴木　幹也、谷田部　可奈、田中　祐三、尾方　克久、久留　聡、埜中　征哉、西野一三、松本直通
- Organizer
  日本筋学会第3回学術集会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Atsuko Nishikawa, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto
- Organizer
  XXIII World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  宮武聡子、三橋　里美、林　由起子、輿水江里子、鶴崎美徳、中島光子、水口剛、三宅紀子、才津浩智、埜中　征哉、西野一三、松本直通
- Organizer
  日本人類電学会第62回大会
- Data Source
  KAKENHI-PROJECT-17K10080
[Presentation] Whole exome sequencing in congenital myopathy2017
- Author(s)
  Satoko Miyatake
- Organizer
  第94回日本生理学会大会
- Place of Presentation
  アクトシティ浜松（静岡県浜松市）
- Year and Date
  2017-03-28
- Invited
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2016
- Author(s)
  Satoko Miyatake, Hiroko Tada, Jun-ichi Takanashi, Yoshiko Hirano, Masaharu Hayashi, Yasushi Oya, Naomichi Matsumoto, and Hirotomo Saitsu
- Organizer
  第57回神経学会学術大会
- Place of Presentation
  神戸コンベンションセンター（兵庫県神戸市）
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] Broadening of ANKRD11-related syndrome2016
- Author(s)
  Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark,　Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akira Ohtake, and Naomichi Matsumoto
- Organizer
  The13th International Congress og Human Genetics
- Place of Presentation
  Kyoto International Conference Center（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Organizer
  American Society of Human Genetics 65th Annual Meeting
- Place of Presentation
  Baltimore, USA
- Year and Date
  2015-10-09
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] TUBB4A変異によるミエリン低形成白質脳症・ジストニア2015
- Author(s)
  宮武聡子
- Organizer
  第56回日本神経学会学術大会
- Place of Presentation
  朱鷺メッセ（新潟県新潟市）
- Year and Date
  2015-05-21
- Invited
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] 全エキソーム解析で8.9Mbの中間部欠失を同定した13q症候群の1例2015
- Author(s)
  宮武聡子、橋本祐至、岡本伸彦、中島光子、才津浩智、三宅紀子、松本直通
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] ネマリンミオパチーの新規原因遺伝子KLHL40の同定2014
- Author(s)
  宮武聡子、林由起子、輿水江里子、Gianina Ravenscroft、三宅紀子、土井宏、鶴崎美徳、才津浩智、小坂仁、山下純正、大宅喬、増澤祐子、今村伸太朗、山下倫明、椎名政昭１、緒方一博１、Nigel G. Laing、西野一三、松本直通
- Organizer
  第55回日本神経学会学術大会
- Place of Presentation
  福岡国際会議場・福岡サンパレス・福岡国際センター（福岡）
- Year and Date
  2014-05-21
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] 全エキソーム解析で片親性イソダイソミーに起因するホモ接合性変異が同定できた巨大軸索ニューロパチー症例2014
- Author(s)
  宮武聡子、多田弘子、守屋聡、高梨潤一、平野嘉子、林雅晴、大矢寧、中島光子、鶴崎美徳、三宅紀子、松本直通、才津浩智
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京）
- Year and Date
  2014-11-20
- Data Source
  KAKENHI-PROJECT-26461549
[Presentation] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies2014
- Author(s)
  Satoko Miyatake, Hitoshi Osaka, Masaaki Shiina, Masayuki Sasaki, Jun-ichi Takanashi, Kazuhiro Haginoya, Takahito Wada, Masafumi Morimoto, Naoki Ando, Yoji Ikuta, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kazuhiro Ogata, Naomichi Matsumoto, and Hirotomo Saitsu
- Organizer
  American Society Of Human Genetics 64th Annual Meeting
- Place of Presentation
  SanDiego, USA
- Year and Date
  2014-10-20
- Data Source
  KAKENHI-PROJECT-26461549
[]
[]

1. SUZUKI Atsushi (00264606)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
2. SATAKE Tomoko (20635130)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
3. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. HOTTA Yoshihiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. FRITH Martin

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. SHIBA Norio

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. KATSUNO Masahisa

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. ISHI Shunsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 6 results
10. TANAKA Kiyoji

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
11. TANAKA Fumiaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
12. SUGENO Naoto

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. SHIINA Masaaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. Matsumoto Naomichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 28 results
15. Doi Hiroshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 8 results
16. Hashiguchi Syunta

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. Ohba Chihiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. SATO Fumitoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
19. ADACHI Hiroaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. KATOH-FUKUI Yuko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. KINO Yoshihiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. HAYASHI Ikuko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. HIROSE Tomonori

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. FUJII Yukihiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. OISHI Makoto

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. ISHIKAWA Taro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 今川英里

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 高田篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 吉田邦広

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
30. 三橋里美

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
31. 石川欽也

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 藤田京志

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
33. 水口剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 8 results
34. 佐橋健太郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 井口洋平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 青戸一司

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 永田浩一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
38. 加藤光広

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
39. 今村江里子(輿水江里子)

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
41. 緒方一博

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
42. 國井美紗子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
43. 井原健二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
44. 小坂仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
45. 新海陽一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
46. 豊田知子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
47. 塚口裕康

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
48. 浜田恵輔

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
51. 高橋悟

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
52. 酒井康成

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
53. 志牟田美佐

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
54. 新田陽平

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
55. 辻田麻紀

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Miyatake Satoko 宮武 聡子

MIYATAKE Satoko 宮武 聡子

Research Projects

Research Products

Co-Researchers

ロングリードシーケンサーを駆使した神経筋疾患の統合的ゲノム解析と病態解明Principal Investigator

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Elucidating genetic cause and patho-mechanism of neuromusucular disorders using long-read sequencerPrincipal Investigator

Principal Investigator

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Comprehensive genomic analysis on perisylvian syndromePrincipal Investigator

Principal Investigator

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MTCL1 plays an essential role to maintain axon initial segment

Principal Investigator

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Whole exome sequencing in moyamoya diseasePrincipal Investigator

Principal Investigator

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[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024

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DOI

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[Journal Article] FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients2024

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[Journal Article] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024

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[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024

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[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024

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[Journal Article] A Novel Mutation of VPS13D-related Disorders with Parkinsonism2024

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[Journal Article] A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant2024

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[Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder2023

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[Journal Article] 特徴的な脳波速波活動を認め臭化カリウムが有効であったGABRB3関連てんかんの1例2023

Author(s)

Miyatake Satoko 宮武聡子

MIYATAKE Satoko 宮武聡子