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

New hope for older SMA patients with next-generation self-complementary AAV gene therapy

新一代自互补AAV基因疗法为老年SMA患者带来新希望

Nakai, Hiroyuki; Finanger, Erika L; Samulski, Richard Jude

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

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Facilitating gynecological examination and long acting reversible contraception for women with substance use disorder: a prospective cohort study

为患有物质使用障碍的女性提供妇科检查和长效可逆避孕措施:一项前瞻性队列研究

Finanger, Trine; Skråstad, Ragnhild Bergene; Appleton, Catherine; Hagemann, Cecilie Therese

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

Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy

磁共振生物标志物变化对杜氏肌营养不良症的临床意义

Willcocks, Rebecca J; Barnard, Alison M; Daniels, Michael J; Forbes, Sean C; Triplett, William T; Brandsema, John F; Finanger, Erika L; Rooney, William D; Kim, Sarah; Wang, Dah-Jyuu; Lott, Donovan J; Senesac, Claudia R; Walter, Glenn A; Sweeney, H Lee; Vandenborne, Krista

Relationship between alcohol intake based on daily smartphone-reported consumption and PEth concentrations in healthy volunteers

基于智能手机每日报告的酒精摄入量与健康志愿者体内PEth浓度的关系

Finanger, Trine; Melby, Katrine; Spigset, Olav; Andreassen, Trine N; Lydersen, Stian; Skråstad, Ragnhild Bergene

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

Identification of unhealthy alcohol use by self-report and phosphatidylethanol (PEth) blood concentrations in an acute psychiatric department

在急性精神科病房,通过自我报告和磷脂酰乙醇(PEth)血液浓度来识别不健康的饮酒行为

Finanger, Trine; Vaaler, Arne Einar; Spigset, Olav; Aamo, Trond Oskar; Andreassen, Trine Naalsund; Gråwe, Rolf Wilhelm; Skråstad, Ragnhild Bergene

Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function

DMD患者挛缩的发展与MRI测定的肌肉质量和行走功能的关系

Willcocks, Rebecca J; Barnard, Alison M; Wortman, Ryan J; Senesac, Claudia R; Lott, Donovan J; Harrington, Ann T; Zilke, Kirsten L; Forbes, Sean C; Rooney, William D; Wang, Dah-Jyuu; Finanger, Erika L; Tennekoon, Gihan I; Daniels, Michael J; Triplett, William T; Walter, Glenn A; Vandenborne, Krista