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

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease

GRIN2D发育性和癫痫性脑病的鼠模型重现了人类疾病的症状。

Yam, Mor; Nassir, Jolan; Galber, Danielle; Quinn, Shir; Gal, Roni; Ovadia, Mor; Bordeynik-Cohen, Mor; Peled, Eden; Makinson, Christopher D; Hausman-Kedem, Moran; Fattal-Valevski, Aviva; Frankel, Wayne N; Avraham, Karen B; Rubinstein, Moran

Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy

GFAP星形胶质细胞病患儿的临床和影像学特征谱

Sommer, Simon; Panzer, Andreas; Bertolini, Annikki; Cleaveland, Robert; Jain, Vivek; Kapanci, Tugba; Derichs, Ute; Geis, Tobias; Neu, Axel; Löhr-Nilles, Christa; Aeschimann-Huhn, Rahel; Flotats-Bastardas, Marina; Deiva, Kumaran; Armangue, Thais; Olivé-Cirera, Gemma; Kannoth, Sudheeran; Koy, Anne; Meirson, Hadas; Fattal-Valevski, Aviva; Ganelin-Cohen, Esther; Losch, Heike; Horne, Annacarin; Wickström, Ronny; Dargvainiene, Justina; Leypoldt, Frank; Rostasy, Kevin

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4 是线粒体复合物 I 的一个亚基,对 T 细胞的代谢适应性和免疫功能至关重要。

Shamriz Oded, Bar-On Zahala, Yosef Omri, Cohen-Daniel Leonor, Sheer Ayelet, Reuven Or, Salaymeh Wajeeh, Saragovi Amijai, Somech Raz, Lev Atar, Mor-Shaked Hagar, Tal Yuval, Fattal-Valevski Aviva, Edvardson Simon, Berger Michael

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs

在HIKESHI相关髓鞘形成不足性脑白质营养不良症中发现的一种新型致病变异会破坏iPSCs的热休克反应

Saleh, Mahmood Ali; Boichuck, Maria; Ottolenghi, Aner; Rabinski, Tatiana; Goldenthal, Omri; Sanchez, Daniel Sevilla; Fattal-Valevski, Aviva; Heimer, Gali; Ben-Shachar, Shay; Libzon, Stephanie; Gershoni-Yahalom, Orly; Ben-Zvi, Anat; Zarivach, Raz; Zerem, Ayelet; Rosental, Benyamin; Vatine, Gad David

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

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study

足月出生患者围产期颅内出血的神经发育结局:一项前瞻性研究

Libzon, Stephanie; Shiran, Shelly I; Fattal-Valevski, Aviva; Schneebaum-Sender, Nira; Roth, Jonathan; Constantini, Shlomi; Malinger, Gustavo; Haratz, Karina Krajden; Sira, Liat Ben; Hausman-Kedem, Moran

Psidium Defenses Against Meloidogyne enterolobii: Proteomic and Microscopic Analysis of this Plant-Predator Association.

番石榴对根结线虫的防御:植物-捕食者关联的蛋白质组学和显微分析

de Oliveira Costa Sara Nállia, da Paschoa Roberta Pena, Alexandrino Camilla Ribeiro, Cremonez Pamela Maciel, Ribeiro Juliana Martins, da Cunha E Castro José Mauro, Da Cunha Maura, Silveira Vanildo, Oliveira Antônia Elenir Amâncio, Fernandes Kátia Valevski Sales

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3

诺西那生治疗对2型和3型脊髓性肌萎缩症患儿呼吸系统的影响

Rochman, Mika; Shay Levanon, Dar; Amirav, Israel; Be'er, Moria; Cahal, Michal; Besor, Omri; Fattal-Valevski, Aviva; Lavie, Moran

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

Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein

治疗晚发型泰萨克斯病:通过双特洛伊木马蛋白进行脑部输送

Esther Osher, Yossi Anis, Ruth Singer-Shapiro, Nataly Urshanski, Tamar Unger, Shira Albeck, Oren Bogin, Gary Weisinger, Fortune Kohen, Avi Valevski, Aviva Fattal-Valevski, Liora Sagi, Michal Weitman, Yulia Shenberger, Nadav Sagiv, Ruth Navon, Meir Wilchek, Naftali Stern0