日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序能够提供高诊断率,并为智力障碍和发育迟缓的病因学研究提供新的见解。

Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Koshimizu, Eriko; Uchiyama, Yuri; Tsuchida, Naomi; Seyama, Rie; Sakamoto, Masamune; Iwama, Kazuhiro; Nishimura, Naoto; Utsuno, Yasuhiro; Fu, Li; Takizawa, Marina; Liang, Qiaowei; Itai, Toshiyuki; Saida, Ken; Ohori, Sachiko; Kameyama, Shinichi; Fukuda, Hiromi; Hayashi, Yukina; Inoue, Yuta; Goto, Tomohide; Ichikawa, Kazushi; Kuki, Ichiro; Fukuoka, Masataka; Kim, Kiyohiro; Shiohama, Tadashi; Shimoda, Konomi; Otsuka, Kosuke; Ueda, Yuki; Cho, Kazutoshi; Yuge, Kotaro; Tachi, Nobutada; Yoshida, Masaki; Daida, Atsuro; Hirasawa, Kyoko; Yanagishita, Tomoe; Yamamoto, Toshiyuki; Shirai, Kentaro; Mehr, Tammar Fixler; Fattal-Valevski, Aviva; Lev, Dorit; Yokoyama, Haruna; Iwabuchi, Emi; Saito, Yoshihiko; Miura, Masaki; Sugai, Kenji; Ishiyama, Akihiko; Sasaki, Masayuki; Watanabe, Yoshihiro; Takanashi, Jun-Ichi; Kim, Chong Ae; Yokochi, Kenji; Tohyama, Jun; Mori, Tatsuo; Izumi, Yuishin; Hasegawa, Yuiko; Okamoto, Nobuhiko; Ikeda, Takahiro; Osaka, Hitoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Kato, Mitsuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

SCN1A功能获得性突变在Dravet综合征中的作用:对临床表型和治疗意义的深入探讨

Kobayashi Takahashi, Yoko; Tabata, Kenshiro; Baba, Shimpei; Takeshita, Eri; Sumitomo, Noriko; Shimizu-Motohashi, Yuko; Saito, Takashi; Nakagawa, Eiji; Ishii, Atsushi; Hirose, Shinichi; Kato, Mitsuhiro; Matsumoto, Naomichi; Komaki, Hirofumi; Inoue, Ken

Reply to Letter to the Editor regarding the article "SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications"

回复编辑来信,内容关于文章“SCN1A 功能获得性效应在 Dravet 综合征中的作用:对临床表型和治疗意义的见解”

Kobayashi Takahashi, Yoko; Tabata, Kenshiro; Baba, Shimpei; Takeshita, Eri; Sumitomo, Noriko; Shimizu-Motohashi, Yuko; Saito, Takashi; Nakagawa, Eiji; Ishii, Atsushi; Hirose, Shinichi; Kato, Mitsuhiro; Matsumoto, Naomichi; Komaki, Hirofumi; Inoue, Ken

Expert opinions on pediatric EEG training for non-epilepsy specialists in sub-Saharan Africa

专家对撒哈拉以南非洲非癫痫专科医生儿科脑电图培训的意见

Kander, Veena; Valente, Kette D; Carrizosa, Jaime; Vidaurre, Jorge; Patel, Archana A; Triki, Chahnez Charfi; Aljandeel, Ghaieb; Singh, Gagandeep; Kato, Mitsuhiro; Seck, Lala; Kone, Zeinab; Beniczky, Sándor; Asukile, Melody T; Birbeck, Gretchen L; Jones, Kevin; Boylan, Geraldine; Hardman, Joanne; Wilmshurst, Jo M

ACNP 63rd Annual Meeting: Keyword Index

ACNP 第 63 届年会:关键词索引

Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

三例ERCC8相关科凯恩综合征患者的双等位基因结构变异以及拷贝数变异分析的潜在陷阱

Watanabe, Daisuke; Okamoto, Nobuhiko; Kobayashi, Yuichi; Suzuki, Hisato; Kato, Mitsuhiro; Saitoh, Shinji; Kanemura, Yonehiro; Takenouchi, Toshiki; Yamada, Mamiko; Nakato, Daisuke; Sato, Masayuki; Tsunoda, Tatsuhiko; Kosaki, Kenjiro; Miya, Fuyuki

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

利用外显子组测序鉴定罕见儿童神经系统疾病的致病变异

Komatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

牵张激活离子通道TMEM63B与发育性和癫痫性脑病以及进行性神经退行性疾病相关。

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J V; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo

Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathies

KCNT1相关发育性和癫痫性脑病中伴有抑制爆发模式的同步心率降低

Yamamoto, Kaoru; Baba, Shimpei; Saito, Takashi; Nakagawa, Eiji; Sugai, Kenji; Iwasaki, Masaki; Fujita, Atsushi; Fukuda, Hiromi; Mizuguchi, Takeshi; Kato, Mitsuhiro; Matsumoto, Naomichi; Sasaki, Masayuki