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

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

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

一例伴有新型MAP3K7变异的严重心脊椎腕面综合征

Nyuzuki, Hiromi; Ozawa, Junichi; Nagasaki, Keisuke; Nishio, Yosuke; Ogi, Tomoo; Tohyama, Jun; Ikeuchi, Takeshi

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Bryant-Li-Bhoj 综合征新生儿肌阵挛与一种新的 H3F3A 变异体相关

Hojo, Moemi; Soma, Noriko; Yamada, Kei; Kobayashi, Yu; Miura, Masaki; Fujii, Hitomi; Nyuzuki, Hiromi; Nishio, Yosuke; Oso, Taichi; Ogi, Tomoo; Ikeuchi, Takeshi; Tohyama, Jun

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

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

HCN1 p.Ser399Pro 变异会导致伴有超难治性癫痫持续状态的癫痫性脑病

Kobayashi, Yu; Tohyama, Jun; Akasaka, Noriyuki; Yamada, Kei; Hojo, Moemi; Seki, Eijun; Miura, Masaki; Soma, Noriko; Ono, Takeshi; Kato, Mitsuhiro; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

西罗莫司用于治疗与 II 型局灶性皮质发育不良相关的癫痫发作

Kato, Mitsuhiro; Kada, Akiko; Shiraishi, Hideaki; Tohyama, Jun; Nakagawa, Eiji; Takahashi, Yukitoshi; Akiyama, Tomoyuki; Kakita, Akiyoshi; Miyake, Noriko; Fujita, Atsushi; Saito, Akiko M; Inoue, Yushi

Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures

局灶性癫痫痉挛、全身性癫痫痉挛以及伴有局灶性发作的全身性癫痫痉挛的药物耐药性各不相同

Takahashi, Yukitoshi; Ota, Akiko; Tohyama, Jun; Kirino, Tomoko; Fujiwara, Yumi; Ikeda, Chizuru; Tanaka, Shigeki; Takahashi, Jyunya; Shinoki, Toshihiko; Shiraga, Hiroshi; Inoue, Takushi; Fujita, Hiroshi; Bonno, Motoki; Nagao, Masayoshi; Kaneko, Hideo

Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy

青少年遗传性全身性癫痫患者停用抗癫痫药物后癫痫复发率及危险因素

Komatsubara, Takao; Kobayashi, Yu; Hiraiwa, Akiko; Magara, Shinichi; Hojo, Moemi; Ono, Takeshi; Okazaki, Kenichi; Fukuda, Masafumi; Tohyama, Jun

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

SEMA6B基因最后一个外显子中的新生截断变异导致进行性肌阵挛性癫痫

Hamanaka, Kohei; Imagawa, Eri; Koshimizu, Eriko; Miyatake, Satoko; Tohyama, Jun; Yamagata, Takanori; Miyauchi, Akihiko; Ekhilevitch, Nina; Nakamura, Fumio; Kawashima, Takeshi; Goshima, Yoshio; Mohamed, Ahmad Rithauddin; Ch'ng, Gaik-Siew; Fujita, Atsushi; Azuma, Yoshiteru; Yasuda, Ken; Imamura, Shintaro; Nakashima, Mitsuko; Saitsu, Hirotomo; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Matsumoto, Naomichi