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

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice

α-突触核蛋白缺失突变会加剧雌性小鼠门克斯病模型的表型。

Casey, MegAnne; Zou, Dan; Reijo Pera, Renee A; Hensley-McBain, Tiffany; Cabin, Deborah E

Real-world clinical impact of plasma cell-free DNA metagenomic next-generation sequencing assay

血浆游离DNA宏基因组二代测序检测在实际临床应用中的意义

Kaur, Ishminder; Shaw, Bennett; Multani, Ashrit; Pham, Christine; Malhotra, Sanchi; Smith, Ethan; Adachi, Kristina; Allyn, Paul; Bango, Zackary; Beaird, Omer Eugene; Caldera, J R; Chandrasekaran, Sukantha; Chan, Lynn; Cheema, Rabia; Daouk, Sarah; Deville, Jaime; Dong, Huan Vinh; Fan, Austin; Garner, Omai; Gaynor, Pryce; Gray, Hannah; Gorin, Aleksandr; Kalava, Sowmya; Kanatani, Meganne; Karnaze, Andrew; Saleh, Tawny; Sharma, Yamini; Stauber, Stacey; Vargas, Moises; Veral, Monette; Winston, Drew; Yanagimoto-Ogawa, Lauren; Aldrovandi, Grace; Nielsen-Saines, Karin; Fuller, Trevon; Jackson, Nicholas; Uslan, Daniel; Schaenman, Joanna; Vijayan, Tara; Sakona, Ashlyn; Yang, Shangxin

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

CRELD1双等位基因变异会导致多系统综合征,包括神经发育表型、心律失常和频繁感染。

Lauren Jeffries ,Emily K Mis ,Kirsty McWalter ,Sandra Donkervoort ,Nina N Brodsky ,Jean-Marie Carpier ,Weizhen Ji ,Cristian Ionita ,Bhaskar Roy ,Jon S Morrow ,Armine Darbinyan ,Krishna Iyer ,Ritu B Aul ,Siddharth Banka ,Katherine R Chao ,Laura Cobbold ,Stacey Cohen ,Helena M Custodio ,Margaret Drummond-Borg ,Frances Elmslie ,Erika Finanger ,Bryan E Hainline ,Ingo Helbig ,Stacy Hewson ,Ying Hu ,Adam Jackson ,Dragana Josifova ,Monica Konstantino ,Meganne E Leach ,Bryan Mak ,David McCormick ,Elisabeth McGee ,Stanley Nelson ,Joanne Nguyen ,Kimberly Nugent ,Lucy Ortega ,Howard P Goodkin ,Elizabeth Roeder ,Sani Roy ,Katie Sapp ,Dimah Saade ,Sanjay M Sisodiya ,Karen Stals ,Shelley Towner ,William Wilson ,Carsten G Bönnemann ,Carrie L Lucas ,Saquib A Lakhani

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

奥米加匹治疗 LAMA2 或 COL6 相关肌营养不良症患者的 1 期开放标签研究

Foley, A Reghan; Yun, Pomi; Leach, Meganne E; Neuhaus, Sarah B; Averion, Gilberto V; Hu, Ying; Hayes, Leslie H; Donkervoort, Sandra; Jain, Minal S; Waite, Melissa; Parks, Rebecca; Bharucha-Goebel, Diana X; Mayer, Oscar H; Zou, Yaqun; Fink, Margaret; DeCoster, Jameice; Mendoza, Christopher; Arévalo, Cynthia; Hausmann, Rudolf; Petraki, Diana; Cheung, Ken; Bönnemann, Carsten G

Lessons learned from implementation of an electronic decision support tool for hospital-administered pneumococcal vaccinations

从医院实施肺炎球菌疫苗接种电子决策支持工具中汲取的经验教训

Malhotra, Sanchi; Martin-Blais, Rachel; Pineda, Ross; Kanatani, Meganne; Kaur, Ishminder; de St Maurice, Annabelle

Perspectives From Students and Faculty on How Women Achieve Leadership Roles in Academic Medicine: An Exploratory Qualitative Study

学生和教职员工对女性如何在学术医学领域获得领导角色的看法:一项探索性定性研究

Chow, Candace J; Ferrel, Meganne N; Graham, Emily M; Fix, Megan L

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Cannulation strategies for extracorporeal membrane oxygenation

体外膜肺氧合的插管策略

Ferrel, Meganne Nichole; Raza, Syed Sikandar; Tang, Paul; Haft, Jonathan; Ala, Ashraf Abou El

Novel Cu(I)-5-nitropyridine-2-thiol Cluster with NIR Emission: Structural and Photophysical Characterization

新型Cu(I)-5-硝基吡啶-2-硫醇簇合物及其近红外发射:结构和光物理表征

Hassanein, Khaled; Cappuccino, Chiara; Marchini, Marianna; Bandini, Elisa; Christian, Meganne; Morandi, Vittorio; Monti, Filippo; Maini, Lucia; Ventura, Barbara