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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因变异与神经发育障碍、精神病和紧张症的易感性相关。

Murthy, Harsha; Hoang, Ny; Stark, Jamie C; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L; Lewis, M E Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A; Craigen, William J; Burrage, Lindsay C; Christie, Michelle R; Baldwin, Deborah; Wentzensen, Ingrid M; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M; Dowling, James J; Mendoza-Londono, Roberto; Scherer, Stephen W; Deshwar, Ashish R; Vorstman, Jacob

Exploring Integrin α5β1 as a Potential Therapeutic Target for Pulmonary Arterial Hypertension: Insights From Comprehensive Multicenter Preclinical Studies

探索整合素α5β1作为肺动脉高压潜在治疗靶点:来自综合多中心临床前研究的启示

Lemay, Sarah-Eve; Montesinos, Mónica S; Grobs, Yann; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Mougin, Manon; Romanet, Charlotte; Sauvaget, Mélanie; Breuils-Bonnet, Sandra; Bourgeois, Alice; Théberge, Charlie; Pelletier, Andréanne; El Kabbout, Reem; Martineau, Sandra; Yamamoto, Keiko; Akram, Muzaffar; Ray, Adrian S; Lippa, Blaise; Goodwin, Bryan; Lin, Fu-Yang; Wang, Hua; Dowling, James E; Lu, Min; Qiao, Qi; McTeague, T Andrew; Moy, Terence I; Potus, François; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sébastien

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model.

X连锁肌病伴过度自噬:斑马鱼模型中的特征分析和治疗测试

Huang Lily, Simonian Rebecca, Lopez Michael A, Karuppasamy Muthukumar, Sanders Veronica M, English Katherine G, Fabian Lacramioara, Alexander Matthew S, Dowling James J

microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy.

microRNA-133a 作为 X 连锁肌管性肌病疾病进展和治疗反应的指标

Maani Nika, Gustafson Dakota, MacDonald Peter, Pannia Emanuela, Ching Crizza, Sabha Nesrin, Fish Jason E, Alexander Matthew S, Dowling James J

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

评估血液转录组分析对先前已通过基因组测序评估的儿科队列的诊断价值

Hou, Huayun; Yuki, Kyoko E; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J; Bowdin, Sarah; Cohn, Ronald D; Mendoza-Londono, Roberto; Scherer, Stephen W; Brudno, Michael; Marshall, Christian R; Stephen Meyn, M; Shlien, Adam; Dowling, James J; Wilson, Michael D; Kyriakopoulou, Lianna

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.

构建了一种由复发性 NEB 外显子 55 缺失引起的线状肌病的新型小鼠模型

Coulson Zachary, Kolb Justin, Sabha Nesrin, Karimi Esmat, Hourani Zaynab, Ottenheijm Coen, Granzier Henk, Dowling James J

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

针对患有 X 连锁肌管性肌病儿童的基因疗法:ASPIRO 研究出版物的通俗易懂的摘要

Shieh, Perry B; Hughes, Wendy; Wood, Marie; Beggs, Alan H; Lawlor, Michael W; Coats, Julie; Varfaj, Fatbardha; Graham, Robert J; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Buj Bello, Ana; Servais, Laurent; MacBean, Vicky; Muntoni, Francesco; Foley, A Reghan; Blaschek, Astrid; James, Emma S; Seferian, Andreea; Alfano, Lindsay N; Duong, Tina; Noursalehi, Mojtaba; Miller, Weston; Lee, Jun; Prasad, Suyash; Rico, Salvador

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

AAV基因疗法治疗50型遗传性痉挛性截瘫:一项单例患者的I期临床试验

Dowling, James J; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M; Chen, Xin; Minassian, Berge A; Cohn, Ronald; Bonnemann, Carsten G; Gray, Steven J