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

TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.

TDP-43 依赖的 KCNQ2 错误剪接引发 ALS/FTD 中的内在神经元过度兴奋。

Joseph Brian J, Marshall Kelly A, Harley Peter, Mann Jacob R, Alessandrini Francesco, Vanoye Carlos G, Chi Wanhao, Prudencio Mercedes, Simkin Dina, Kao Tzu-Ting, Desai Reshma R, Keuss Matthew J, Barattucci Simone, Zanovello Matteo, Mehta Puja R, DeKeyser Jean-Marc, Limone Francesco, Lee Jonathan, Brown Anna-Leigh, Leyton-Jaimes Marcel F, Nash Leslie A, Juan Irune Guerra San, Aronica Eleonora, Wainger Brian J, Shah Mala, Goswami Anand, Shneider Neil A, Dickson Dennis W, Burrone Juan, Zhang Chaolin, Wichterle Hynek, Petrucelli Leonard, Watts Jonathan K, George Alfred L Jr, Fratta Pietro, Eggan Kevin, Kiskinis Evangelos

C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7.

C9ORF72 poly-PR 通过 SRSF7 破坏 ALS/FTD 相关 STMN2 的表达

Wang Karen S, Smeyers Julie, Eggan Kevin, Budnik Bogdan, Mordes Daniel A

Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neurons

正常运动神经元和ALS C9orf72运动神经元成熟过程中染色体和核结构的动态变化

Uyan, Özgün; Sambare, Snehal; Oomen, Marlies E; Wightman, Nicholas; Schooley, Allana; Klim, Joseph R; Belaghzal, Houda; Aydemir, Özkan; Akgol-Oksuz, Betul; Uslu, Zeynep Sena Agim; Eggan, Kevin; Brown, Robert H Jr; Dekker, Job

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

CACHD1基因的双等位基因功能缺失变异会导致一种新型神经发育综合征,伴有面部畸形和多系统先天性异常。

Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E; Wells, Michael F

Evaluating the state of the science for adeno-associated virus integration: An integrated perspective

评估腺相关病毒整合的科学现状:一个综合视角

Sabatino, Denise E; Bushman, Frederic D; Chandler, Randy J; Crystal, Ronald G; Davidson, Beverly L; Dolmetsch, Ricardo; Eggan, Kevin C; Gao, Guangping; Gil-Farina, Irene; Kay, Mark A; McCarty, Douglas M; Montini, Eugenio; Ndu, Adora; Yuan, Jing

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

依佐加宾对肌萎缩侧索硬化症皮质和脊髓运动神经元兴奋性的影响:一项随机临床试验

Wainger, Brian J; Macklin, Eric A; Vucic, Steve; McIlduff, Courtney E; Paganoni, Sabrina; Maragakis, Nicholas J; Bedlack, Richard; Goyal, Namita A; Rutkove, Seward B; Lange, Dale J; Rivner, Michael H; Goutman, Stephen A; Ladha, Shafeeq S; Mauricio, Elizabeth A; Baloh, Robert H; Simmons, Zachary; Pothier, Lindsay; Kassis, Sylvia Baedorf; La, Thuong; Hall, Meghan; Evora, Armineuza; Klements, David; Hurtado, Aura; Pereira, Joao D; Koh, Joan; Celnik, Pablo A; Chaudhry, Vinay; Gable, Karissa; Juel, Vern C; Phielipp, Nicolas; Marei, Adel; Rosenquist, Peter; Meehan, Sean; Oskarsson, Björn; Lewis, Richard A; Kaur, Divpreet; Kiskinis, Evangelos; Woolf, Clifford J; Eggan, Kevin; Weiss, Michael D; Berry, James D; David, William S; Davila-Perez, Paula; Camprodon, Joan A; Pascual-Leone, Alvaro; Kiernan, Matthew C; Shefner, Jeremy M; Atassi, Nazem; Cudkowicz, Merit E

Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets

弥合转化鸿沟:利用iPS细胞模型连接基因发现与异常通路和治疗靶点

Pintacuda, Greta; Martín, Jacqueline M; Eggan, Kevin C

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

C9orf72抑制肠道细菌诱导的全身性和神经炎症

Burberry, Aaron; Wells, Michael F; Limone, Francesco; Couto, Alexander; Smith, Kevin S; Keaney, James; Gillet, Gaëlle; van Gastel, Nick; Wang, Jin-Yuan; Pietilainen, Olli; Qian, Menglu; Eggan, Pierce; Cantrell, Christopher; Mok, Joanie; Kadiu, Irena; Scadden, David T; Eggan, Kevin

Hippo signaling in the ovary and polycystic ovarian syndrome

Hippo信号通路在卵巢和多囊卵巢综合征中的作用

Maas, Kristi; Mirabal, Sheyla; Penzias, Alan; Sweetnam, Paul M; Eggan, Kevin C; Sakkas, Denny

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

精神疾病的全基因组测序:WGSPD联盟

Sanders, Stephan J; Neale, Benjamin M; Huang, Hailiang; Werling, Donna M; An, Joon-Yong; Dong, Shan; Abecasis, Goncalo; Arguello, P Alexander; Blangero, John; Boehnke, Michael; Daly, Mark J; Eggan, Kevin; Geschwind, Daniel H; Glahn, David C; Goldstein, David B; Gur, Raquel E; Handsaker, Robert E; McCarroll, Steven A; Ophoff, Roel A; Palotie, Aarno; Pato, Carlos N; Sabatti, Chiara; State, Matthew W; Willsey, A Jeremy; Hyman, Steven E; Addington, Anjene M; Lehner, Thomas; Freimer, Nelson B