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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity

STRADA相关巨脑畸形中mTOR过度激活导致前脑兴奋性和抑制性神经发生延迟。

Pan, Tong; Lin, Grace; Li, Xuan; VanHeyningen, Debora; Walker, John C; Kohli, Sahej; Saravanan, Aiswarya; Kondur, Amrita; Jaklic, Daniel C; Pantoja-Gutierrez, Saul; Vaid, Shivanshi; Sturza, Julie; Inoki, Ken; Imamichi, Tomozumi; Chang, Weizhong; Dang, Louis T

Cancer cells surviving cisplatin chemotherapy increase stress-induced OMA1 activity and mitochondrial fragmentation.

癌细胞在顺铂化疗后存活下来,但应激诱导的 OMA1 活性和线粒体碎片化增加。

Li Melvin, McCullum Chenille A, Rolle Louis T A, Ni Qin, Ge Zhuoxu, Sun Sean X, Pienta Kenneth J, Amend Sarah R

STRADA deficiency impairs cortical interneuron development in humans and mice

STRADA缺陷会损害人类和小鼠的皮层中间神经元发育。

Parikh, Ria K; Hijazi, Asmaa; Nguyen, ThachVu H; Pandey, Meghna; Young-Morrison, Reana; Adams, Danya A; Kamdi, Sandesh; Tran, Sophie; Carson, Vincent J; Iffland, Philip H; Dang, Louis T; Crino, Peter B; Parker, Whitney E

Juvenile hosts and natal dispersers are protected in the early stages of epidemics

幼年宿主和出生地传播者在疫情初期会受到保护。

Bubrig, Louis T; Amundson, Irish A; Talley, Sarah K; Kuzminski, Sophia G; Gibson, Amanda K

Hospital Addiction Consultation Service and Opioid Use Disorder Treatment: The START Randomized Clinical Trial

医院成瘾咨询服务和阿片类药物使用障碍治疗:START随机临床试验

Ober, Allison J; Murray-Krezan, Cristina; Page, Kimberly; Friedmann, Peter D; Anderson, Jess; Osilla, Karen Chan; Ryzewicz, Stephen; Huerta, Sergio; Mazer, Mia W; Hoskinson, Randall A; Garvey, Richard; Peltz, Alexandra; Watkins, Katherine E; Nuckols, Teryl; IsHak, Waguih William; Mariano, Louis T; Danovitch, Itai

Imino-Pyrrole Zn(II) Complexes for the Rapid and Selective Chemical Recycling of Commodity Polymers

亚胺吡咯锌(II)配合物用于快速选择性化学回收大宗聚合物

Stewart, Jack A; Powell, Louis T W; Cullen, Matthew J; Kociok-Köhn, Gabrielle; Davidson, Matthew G; Jones, Matthew D

Persistence of Social Norms Feedback on Postsurgery Opioid Prescribing Behavior: Secondary Analysis of a Randomized Clinical Trial

社会规范反馈对术后阿片类药物处方行为的影响:一项随机临床试验的二次分析

Zanocco, Kyle A; Wagner, Zachary; Mariano, Louis T; Kirkegaard, Allison; Yan, Xiaowei; Fox, Craig R; Goldstein, Noah J; Brummett, Chad M; Watkins, Katherine E

Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death

敲入Kcnh2基因的兔长QT间期综合征2型、癫痫和猝死模型

Singh, Veronica; Wagner, Kyle T; Williams, Laura G; Ryan, Justin M; Keller, Katherine R; Mohnkern, Jonathan D; Gardner, Robert S; Dang, Louis T; Ziobro, Julie M; Wojcikiewicz, Richard J H; Tucker, Nathan R; Auerbach, David S

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy

SCN1B相关发育性和癫痫性脑病模型中心脏兴奋性改变和心律失常

Ramos-Mondragon, Roberto; Wang, Shuyun; Edokobi, Nnamdi; Liu, Qinghua; Qiao, Xiaotan; Shih, Maya; Dang, Louis T; Tsan, Yao-Chang; Štěrbová, Katalin; Helms, Adam S; Weckhuysen, Sarah; Lopez-Santiago, Luis F; Parent, Jack M; Isom, Lori L