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

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

大规模外显子组分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Hop, Paul J; Kooyman, Maarten; Kenna, Brendan J; Zwamborn, Ramona A J; van Eijk, Kristel R; Wang, Yan; van Dijk, Charlotte H; Bekema, Erwin; van Rheenen, Wouter; Beele, Paul; van Vugt, Joke J F A; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Cooper-Knock, Johnathan; Smith, Bradley N; Topp, Simon; van der Kooi, Anneke J; Fominykh, Vera; Drory, Vivian; Lerner, Yossef; Shovman, Yehuda; Rowe, Dominic B; Williams, Kelly L; McLaughlin, Russell L; Hurt, Jessica; Huang, Yunfeng; Chen, Chia-Yen; Tsai, Ellen; Runz, Heiko; Aronica, Eleonora; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Farhan, Sali M K; Garton, Fleur C; McRae, Allan F; McCombe, Pamela A; Henderson, Robert D; Fan, Dongsheng; Šlachtová, Lenka; Høyer, Helle; Nishimura, Agnes L; Cauchi, Ruben J; Brylev, Lev; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Salas, Teresa; Mora Pardina, Jesus S; Gotkine, Marc; Povedano, Monica; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Weber, Markus; Kiernan, Matthew C; Pamphlett, Roger; Blair, Ian P; de Carvalho, Mamede; Başak, Nazli A; Ingre, Caroline; Andersen, Peter M; Zinman, Lorne; Rogaeva, Ekaterina; MacKenzie, Ian R; Dupre, Nicolas; Rouleau, Guy A; Traynor, Bryan J; Ticozzi, Nicola; Chiò, Adriano; Silani, Vincenzo; Hardiman, Orla; Phatnani, Hemali; Harms, Matthew B; Dalgard, Clifton L; Glass, Jonathan D; Landers, John E; Van Damme, Philip; Morrison, Karen E; Shaw, Pamela J; Shaw, Chris E; Al-Chalabi, Ammar; van den Berg, Leonard H; Kenna, Kevin P; Veldink, Jan H

RIG-I Mediated Neuron-Specific IFN Type 1 Signaling in FUS-ALS Induces Neurodegeneration and Offers New Biomarker-Driven Individualized Treatment Options for (FUS-)ALS.

RIG-I 介导的神经元特异性 IFN 1 型信号传导在 FUS-ALS 中诱导神经退行性变,并为 (FUS-)ALS 提供新的生物标志物驱动的个体化治疗选择。

Naumann Marcel, Wierschin Theresa M, Kretschmer Stefanie, Dash Banaja P, Held Aaron, Salzinger Andrea, Peikert Kevin, Karlek Anže, Glaß Hannes, Großmann Dajana, Günther René, Petri Susanne, Rödiger Annekathrin, Brenner David, Pan-Montojo Francisco, Aronica Eleonora, Kipp Markus, Zimyanin Vitaly, Sterneckert Jared, Grehl Torsten, Seebacher Noah D, Böckers Tobias M, Catanese Alberto, Wainger Brian J, Oeckl Patrick, Lee-Kirsch Min Ae, Hermann Andreas

Fueling asthma inflammation via bioenergetic metabolic reprogramming

通过生物能量代谢重编程加剧哮喘炎症

Mulya, Anny; Janocha, Allison J; Novotny, Michael V; Reichard, Andrew; Hamm, Emma; Chen, Ruoying; Mey, Jacob T; Peterson, Laura; Mavrakis, Lori; Beck, Brittany; Koo, Michelle; Sharp, Jacqueline; Pennington, Emily; McCarroll, Stephanie; Micklewright, Sarah; Zhang, Peng; Koziol-White, Cynthia; Aronica, Mark; Comhair, Suzy A A; Kirwan, John P; Barnard, John; Panettieri, Reynold A Jr; Darley-Usmar, Victor; Erzurum, Serpil C

Spatial protein expression patterns across pathologically-associated fibers revealed molecular specialization in inclusion body myositis

病理相关纤维中的空间蛋白表达模式揭示了包涵体肌炎的分子特化

Nijssen, T I; Davis, S; O'Shaughnessy, R A; Bos, E; van der Kooi, A J; Raaphorst, J; Aronica, E; Fischer, R; Kessler, B M; Raz, Vered

New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases

新型p65 iso5亚型作为地塞米松结合蛋白:炎症性疾病的新型潜在治疗靶点

Spinelli, Gaetano; Biddeci, Giuseppa; Iannolo, Gioacchin; Colomba, Paolo; Duro, Giovanni; Marsana, Emanuela Maria; Aronica, Tommaso Silvano; Di Blasi, Francesco

The clinical value of [(18)F]-fluoro-ethyl-L-tyrosine PET ([(18)F]FET-PET) correlated with MRI in patients with functioning pituitary adenomas: an observational cohort study

[(18)F]-氟乙基-L-酪氨酸PET([(18)F]FET-PET)与MRI在功能性垂体腺瘤患者中的临床价值相关性:一项观察性队列研究

van der Hoeven, Loren S; van Vugt, Siebren G; Timmers, Tessa; Heshof, Eva A M; Koopman, Miou S; Aronica, Eleonora; Hoogmoed, Jantien; Pereira, Alberto M; van de Giessen, Elsmarieke; Stenvers, Dirk Jan

Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes

细胞状态依赖性等位基因效应和人脑表型的背景孟德尔随机化分析

Alexander Haglund # ,Verena Zuber # ,Maya Abouzeid ,Yifei Yang ,Jeong Hun Ko ,Liv Wiemann ,Maria Otero-Jimenez ,Louwai Muhammed ,Rahel Feleke ,Alexi Nott ,James D Mills ,Liisi Laaniste ,Djordje O Gveric ,Daniel Clode ,Ann C Babtie ,Susanna Pagni ,Ravishankara Bellampalli ,Alyma Somani ,Karina McDade ,Jasper J Anink ,Lucia Mesarosova ,Nurun Fancy ,Nanet Willumsen ,Amy Smith ,Johanna Jackson ,Javier Alegre-Abarrategui ,Eleonora Aronica ,Paul M Matthews ,Maria Thom ,Sanjay M Sisodiya ,Prashant K Srivastava ,Dheeraj Malhotra ,Julien Bryois ,Leonardo Bottolo ,Michael R Johnson

Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia

单细胞基因分型和嵌合型局灶性皮质发育不良的转录组分析

Sara Baldassari # ,Esther Klingler # ,Lucia Gomez Teijeiro ,Marion Doladilhe ,Corentin Raoux ,Sergi Roig-Puiggros ,Sara Bizzotto ,Jeanne Couturier ,Alice Gilbert ,Lina Sami ,Théo Ribierre ,Eleonora Aronica ,Homa Adle-Biassette ,Mathilde Chipaux ,Denis Jabaudon ,Stéphanie Baulac

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

Author Correction: Design-rules for stapled peptides with in vivo activity and their application to Mdm2/X antagonists

作者更正:具有体内活性的肽链设计规则及其在 Mdm2/X 拮抗剂中的应用

Chandramohan, Arun; Josien, Hubert; Yuen, Tsz Ying; Duggal, Ruchia; Spiegelberg, Diana; Yan, Lin; Juang, Yu-Chi Angela; Ge, Lan; Aronica, Pietro G; Kaan, Hung Yi Kristal; Lim, Yee Hwee; Peier, Andrea; Sherborne, Brad; Hochman, Jerome; Lin, Songnian; Biswas, Kaustav; Nestor, Marika; Verma, Chandra S; Lane, David P; Sawyer, Tomi K; Garbaccio, Robert; Henry, Brian; Kannan, Srinivasaraghavan; Brown, Christopher J; Johannes, Charles W; Partridge, Anthony W