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

Influenza-Associated Acute Necrotizing Encephalopathy in US Children

美国儿童流感相关急性坏死性脑病

Silverman, Andrew; Walsh, Rachel; Santoro, Jonathan D; Thomas, Katherine; Ballinger, Elizabeth; Fisher, Kristen S; Thomas, Ajay X; Appavu, Brian; Kruer, Michael C; Neilson, Derek; Knoll, Jasmine; Sharp, April N; Edelman, Hannah E; Otallah, Scott; Morgan, Alexandra; Grzezulkowska, Aniela; Nguyen, John; Rao, Lekha M; Hecht, Shaina M; Catalano, Laura; Daigle, Hunter; Kronfol, Catherine; Wharton, Jessica; Adams, David; Kalawi, Adam Z; Kung, Michael; Arellano, Janetta L; Smith, Lauren; Segal, Devorah; Feja, Kristina; Broomall, Eileen; Jayakar, Anuj; Arnold, Sandra R; Retallack, Hanna; Press, Craig A; Gombolay, Grace; McLaughlin, Madeleine H; Kannan, Varun; Thakkar, Kavita; Rezwan, Tasmia; Hulfish, Erin; Eid, Dalia; Meylor, Jennifer; Peng, Diane; Hurtado, Ryan; Nickerson, Taylor; Mandell, Iris; Carbonell, Abigail U; Kerner-Rossi, Mallory; Jayaraman, Divya; Davis, Mallory; Olivero, Rosemary; Shah, Neel; Osborne, Christina M; Zhang, Bo; Cortina, Christopher; Randolph, Adrienne G; Rao, Suchitra; LaRocca, Thomas; Van Haren, Keith P; Wilson-Murphy, Molly

Differential responses of disease-related GRIN variants located in pore-forming M2 domain of N-methyl-D-aspartate receptor to FDA-approved inhibitors.

位于 N-甲基-D-天冬氨酸受体孔形成 M2 结构域中的疾病相关 GRIN 变体对 FDA 批准的抑制剂的不同反应

Song Rui, Zhang Jin, Perszyk Riley E, Camp Chad R, Tang Weiting, Kannan Varun, Li Jia, Xu Yuchen, Chen Jiahui, Li Yinlong, Liang Steven H, Traynelis Stephen F, Yuan Hongjie

Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis

抗N-甲基-D-天冬氨酸受体脑炎患儿的孤立性精神症状

Gombolay, Grace; Brenton, J Nicholas; Yang, Jennifer H; Stredny, Coral M; Kammeyer, Ryan; Fisher, Kristen S; Sandweiss, Alexander J; Erickson, Timothy A; Kannan, Varun; Otten, Catherine; Steriade, Claude; Vu, NgocHanh; Santoro, Jonathan D; Robles-Lopez, Karla; Goodrich, Robert; Otallah, Scott; Arellano, Janetta; Christiana, Andrew; Morris, Morgan; Gorman, Mark P; Kornbluh, Alexandra B; Kahn, Ilana; Sepeta, Leigh; Jiang, Yike; Muscal, Eyal; Murray, Kristy O; Moodley, Manikum; Hardy, Duriel

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

胆碱和乙醇胺转运蛋白FLVCR1的双等位基因变异是多种疾病谱的基础,涵盖从成人神经退行性疾病到严重发育障碍。

Calame, Daniel G; Wong, Jovi Huixin; Panda, Puravi; Nguyen, Dat Tuan; Leong, Nancy C P; Sangermano, Riccardo; Patankar, Sohil G; Abdel-Hamid, Mohamed; AlAbdi, Lama; Safwat, Sylvia; Flannery, Kyle P; Dardas, Zain; Fatih, Jawid M; Murali, Chaya; Kannan, Varun; Lotze, Timothy E; Herman, Isabella; Ammouri, Farah; Rezich, Brianna; Efthymiou, Stephanie; Alavi, Shahryar; Murphy, David; Firoozfar, Zahra; Nasab, Mahya Ebrahimi; Bahreini, Amir; Ghasemi, Majid; Haridy, Nourelhoda A; Goldouzi, Hamid Reza; Eghbal, Fatemeh; Karimiani, Ehsan Ghayoor; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Du, Haowei; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Marafi, Dana; Rodan, Lance; Isikay, Sedat; Rosenfeld, Jill A; Ramanathan, Subhadra; Staton, Michael; Kerby C Oberg; Clark, Robin D; Wenman, Catharina; Loughlin, Sam; Saad, Ramy; Ashraf, Tazeen; Male, Alison; Tadros, Shereen; Boostani, Reza; Abdel-Salam, Ghada M H; Zaki, Maha; Abdalla, Ebtesam; Manzini, M Chiara; Pehlivan, Davut; Posey, Jennifer E; Gibbs, Richard A; Houlden, Henry; Alkuraya, Fowzan S; Bujakowska, Kinga; Maroofian, Reza; Lupski, James R; Nguyen, Long Nam

Arterial Spin Labeling Changes Parallel Asymmetric Perisylvian and Perirolandic Symptoms in 3 Pediatric Cases of Anti-NMDAR Encephalitis

动脉自旋标记改变与3例儿童抗NMDAR脑炎患者的非对称性侧裂周围和中央前回周围症状平行

Sandweiss, Alexander J; Kannan, Varun; Desai, Nilesh K; Kralik, Stephen F; Muscal, Eyal; Fisher, Kristen S

De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases

NMDA受体M2通道孔形成环中的新生GRIN变异与神经系统疾病相关

Li, Jia; Zhang, Jin; Tang, Weiting; Mizu, Ruth K; Kusumoto, Hirofumi; XiangWei, Wenshu; Xu, Yuchen; Chen, Wenjuan; Amin, Johansen B; Hu, Chun; Kannan, Varun; Keller, Stephanie R; Wilcox, William R; Lemke, Johannes R; Myers, Scott J; Swanger, Sharon A; Wollmuth, Lonnie P; Petrovski, Slavé; Traynelis, Stephen F; Yuan, Hongjie

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

GRIN1基因的新生突变会导致广泛的双侧多小脑回畸形

Fry Andrew E, Fawcett Katherine A, Zelnik Nathanel, Yuan Hongjie, Thompson Belinda A N, Shemer-Meiri Lilach, Cushion Thomas D, Mugalaasi Hood, Sims David, Stoodley Neil, Chung Seo-Kyung, Rees Mark I, Patel Chirag V, Brueton Louise A, Layet Valérie, Giuliano Fabienne, Kerr Michael P, Banne Ehud, Meiner Vardiella, Lerman-Sagie Tally, Helbig Katherine L, Kofman Laura H, Knight Kristin M, Chen Wenjuan, Kannan Varun, Hu Chun, Kusumoto Hirofumi, Zhang Jin, Swanger Sharon A, Shaulsky Gil H, Mirzaa Ghayda M, Muir Alison M, Mefford Heather C, Dobyns William B, Mackenzie Amanda B, Mullins Jonathan G L, Lemke Johannes R, Bahi-Buisson Nadia, Traynelis Stephen F, Iago Heledd F, Pilz Daniela T