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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Correction: Introducing the UK Crop Microbiome Cryobank data resource, AgMicrobiomeBase, with case studies and methods on metabarcoding analyses

更正:介绍英国作物微生物组冷冻库数据资源 AgMicrobiomeBase,其中包含宏条形码分析的案例研究和方法。

Yau, Payton To; Taketani, Rodrigo G; Bonnin, J Miguel; Stewart, Helen; Thompson, Catriona M A; Clark, Ian M; Mauchline, Tim H; Malone, Jacob G; Ryan, Matthew J; Jones, Susan; Holden, Nicola

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis

临床遗传学中的风险是什么?利用失效模式与效应分析法设计和试用评估临床遗传学风险的工具

Lambert, Deborah M; Stewart, Helen; Bandiola, Mari; Bertoli, Marta; Butterly, Dearbhla; Kuismin, Outi; Moilanen, Jukka; Rea, Gillian; Streata, Ioana; Griffin, Anna; McGrath, Vicky; Behan, Deborah; Coen, Natasha; King, Sheila; Kilroe, Elaine; Ward, Alana J; Lynch, Sally Ann

Mobile EEG assessment of inhibitory control during dual-task walking in Parkinson's disease

帕金森病患者双任务行走过程中抑制控制的移动脑电图评估

Lizarraga, Karlo J; Patelaki, Eleni; Kim, Minju; Kim, Jeehyun; McDermott, Michael P; Weber, Miriam T; Hallett, Mark; Okun, Michael S; Bronte-Stewart, Helen M; Schifitto, Giovanni; Freedman, Edward G; Foxe, John J

Proceedings of the 13th annual deep brain stimulation think tank: the evolving landscape

第十三届年度深部脑刺激研讨会论文集:不断演变的格局

Fleeting, Chance R; Moraud, Eduardo M; Uğurbil, Kamil; Wang, Doris D; Neumann, Wolf-Julian; Kühn, Andrea A; Voon, Valerie; Pikov, Victor; Welter, Marie-Laure; Fox, Michael D; Rolston, John D; Malekmohammadi, Mahsa; Pathak, Yagna J; Himes, Lyndahl M; Greene, David; Holt-Becker, Abbey S; Lázaro-Muñoz, Gabriel; Charney, Alexander W; Merner, Amanda R; Figee, Martijn; Scangos, Katherine W; Denison, Timothy; Leyde, Kent; Gunduz, Aysegul; Bronte-Stewart, Helen M; Beck, James C; Vanegas-Arroyave, Nora; Luciano, Marta San; Brüggemann, Norbert; Foote, Kelly D; Okun, Michael S; Wong, Joshua K

Real-Time Kinematic Adaptive Deep Brain Stimulation Safely Reduces Gait Impairment and Freezing of Gait in Parkinson's Disease

实时运动自适应深部脑刺激可安全有效地减轻帕金森病患者的步态障碍和冻结步态

Karjagi, Shreesh; Kehnemouyi, Yasmine M; Petrucci, Matthew N; Parisi, Laura; Lambert, Emilia F; Melbourne, Jillian A; Akella, Pranav; Wilkins, Kevin B; O'Day, Johanna; Dorris, Hannah J; Diep, Cameron; Gala, Aryaman S; Cui, Chuyi; Hoffman, Shannon L; Acharyya, Prerana; Herron, Jeffrey A; Bronte-Stewart, Helen M

Long-Term Personalized Adaptive Deep Brain Stimulation in Parkinson Disease: A Nonrandomized Clinical Trial

帕金森病长期个性化自适应深部脑刺激:一项非随机临床试验

Bronte-Stewart, Helen M; Beudel, Martijn; Ostrem, Jill L; Little, Simon; Almeida, Leonardo; Ramirez-Zamora, Adolfo; Fasano, Alfonso; Hassell, Travis; Mitchell, Kyle T; Moro, Elena; Gostkowski, Michal; Chattree, Gaurav; de Bie, Rob M A; de Neeling, Martijn; Piña-Fuentes, Dan; Swinnen, Bart; Starr, Philip A; Hammer, Lauren H; Foote, Kelly D; Richardson, R Mark; Flaherty, Alice; Boogers, Alexandra; Sa'di, Qais; Meoni, Sara; Castrioto, Anna; Stanslaski, Scott; Summers, Rebekah L S; Tonder, Lisa; Tan, Ye; Berrier, Helen; Goble, Tim J; Raike, Robert S; Herrington, Todd M

Remote real time digital monitoring fills a critical gap in the management of Parkinson's disease

远程实时数字监测填补了帕金森病管理中的一个关键空白

Negi, Aarushi S; Karjagi, Shreesh; Parisi, Laura; Daley, Kerry W; Abay, Annie K; Gala, Aryaman S; Wilkins, Kevin B; Hoffman, Shannon L; Ferris, Margaret S; Zahed, Hengameh; Chattree, Gaurav M; Palushaj, Bianca; Bronte-Stewart, Helen M

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Structure-Guided Design of ISOX-DUAL-Based Degraders Targeting BRD4 and CBP/EP300: A Case of Degrader Collapse.

基于 ISOX-DUAL 的结构导向降解剂设计:针对 BRD4 和 CBP/EP300 的降解剂崩溃案例

Edmonds Anthony K, Balourdas Dimitrios-Ilias, Marsh Graham P, Felix Robert, Brasher Bradley, Cooper Jeff, Graber-Feesl Cari, Kollareddy Madhu, Malik Karim, Stewart Helen, Chevassut Timothy J T, Lineham Ella, Morley Simon, Fedorov Oleg, Bennett James, Rajasekaran Mohan B, Ojeda Samuel, Harrison Drew A, Ott Christopher J, Joerger Andreas C, Maple Hannah J, Spencer John