Falk Marni J相关文献与解析，生知库 | 链接生命科学的每一步

Wang, Robert; Wang, Feng; DeBruyne, Nicole; Ji, Xinjun; Engelhardt, Nicole M; Park, Joseph Jee-Hwan; Notaro, Amber; Gaerlan, Samantha; Park, Ryan; Schultz, Matthew J; Clever, Sheila; McCormick, Elizabeth M; Keith, Kelsey; Ng, Bobby G; Kadash-Edmondson, Kathryn E; Freeze, Hudson H; Lam, Christina T; Morava, Eva; Helbig, Ingo; Falk, Marni J; Ganetzky, Rebecca D; Edmondson, Andrew C; Lin, Lan; Xing, Yi

发表日期：2026

文献求助收藏

Cognate amino acid therapies provide preclinical benefit in 19 C. elegans models of ARS2 deficiency

同源氨基酸疗法在19种秀丽隐杆线虫ARS2缺陷模型中显示出临床前疗效。

期刊:

影响因子:

doi:10.64898/2026.02.03.703549

Remes, Cristina; Keith, Kelsey; Xiao, Rui; Anderson, Vernon E; Iadarola, Donna M; Nakamaru-Ogiso, Eiko; Mathew, Neal D; Falk, Marni J

In vitro modeling of nutritional and mitochondria-targeted therapies for osteosarcoma

体外模拟营养和线粒体靶向疗法治疗骨肉瘤

期刊:

影响因子:

doi:10.64898/2026.02.19.706776

Peng, Min; Keith, Kelsey; Dalwadi, Shrey; Anderson, Vernon E; Resnick, Adam; Falk, Marni J

Small-molecule hypoxia therapy in mitochondrial disease

小分子缺氧疗法在线粒体疾病中的应用

期刊:Cell

影响因子:42.5

doi:10.1016/j.cell.2025.02.019

Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact

长期体位性心动过速综合征结局调查：教育、经济和社会影响

期刊:Journal of the American Heart Association

影响因子:5.3

doi:10.1161/JAHA.125.042365

Boris, Jeffrey R; Shadiack, Edward C 3rd; McCormick, Elizabeth M; MacMullen, Laura; George-Sankoh, Ibrahim; Falk, Marni J

发表日期：2025

文献求助收藏

Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish

斑马鱼学：利用斑马鱼获得严谨且可重复数据的研究设计指南

期刊:Communications Biology

影响因子:5.1

doi:10.1038/s42003-025-07496-z

Bedell, Victoria M; Dubey, Priya; Lee, Han B; Bailey, Dondra S; Anderson, Jennifer L; Jamieson-Lucy, Allison; Xiao, Rui; Leonard, Elvin V; Falk, Marni J; Pack, Michael A; Mullins, Mary; Farber, Steven A; Eckenhoff, Roderic G; Ekker, Stephen C

发表日期：2025

文献求助收藏

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

在原发性线粒体疾病的诊断评估中，解读骨骼肌组织中多发性大规模线粒体DNA缺失（MLSMD）的临床意义

期刊:Frontiers in Pharmacology

影响因子:4.8

doi:10.3389/fphar.2025.1507493

Wang, Jing; Peterson, James T; Santos, Joaquim Diego D; Chan, Ada J S; Diaz-Miranda, Maria Alejandra; Rahaman, Imon; Flickinger, Jean; Goldstein, Amy; Bogush, Emily; McCormick, Elizabeth M; Muraresku, Colleen C; Anderson, Vernon E; Dulik, Matthew C; Wallace, Douglas C; Xiao, Rui; Falk, Marni J; Viaene, Angela N; Zolkipli-Cunningham, Zarazuela

线粒体

发表日期：2025

文献求助收藏

Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models

扎戈西呱可预防应激诱导的神经肌肉功能障碍，改善线粒体生理功能，并提高多种线粒体呼吸链疾病斑马鱼模型的运动能力。

期刊:Frontiers in Pharmacology

影响因子:4.8

doi:10.3389/fphar.2025.1588426

Burg, Leonard; Yoon, Heeyong; Peng, Min; Germano, Peter; Reesey Gretzmacher, Emily; Xiao, Rui; Anderson, Vernon E; Nakamaru-Ogiso, Eiko; Falk, Marni J

线粒体

发表日期：2025

文献求助收藏

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

单发大规模线粒体缺失综合征：儿科患者的神经影像学表型和纵向进展

期刊:American Journal of Neuroradiology

影响因子:3.7

doi:10.3174/ajnr.A8670

Alves, Cesar A P F; Rossi-Espagnet, Maria Camilla; Perez, Francisco; Manteghinejad, Amirreza; Peterson, James T; Ganetzky, Rebecca; Napolitano, Antonio; Grassi, Francesco; George-Sankoh, Ibrahim; Yildiz, Harun; Muraresku, Colleen; Falk, Marni J; Martinelli, Diego; Longo, Daniela; Vanderver, Adeline; Gandolfo, Carlo; Saneto, Russell P; Goldstein, Amy; Vossough, Arastoo

线粒体

发表日期：2025

文献求助收藏

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups

非洲（L）线粒体基因组单倍群原发性线粒体疾病患者线粒体DNA致病变异的流行情况

期刊:JIMD Reports

影响因子:1.8

doi:10.1002/jmd2.70036

Meldau, Surita; McCormick, Elizabeth M; George-Sankoh, Ibrahim; Riordan, Gillian T; Khan, Kashief; MacMullen, Laura E; Dawlat, Shrinav; Blackhurst, Dee; Falk, Marni J; Elson, Joanna L

线粒体

发表日期：2025

文献求助收藏

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

靶向长读长RNA测序用于罕见病诊断和变异解读

Cognate amino acid therapies provide preclinical benefit in 19 C. elegans models of ARS2 deficiency

同源氨基酸疗法在19种秀丽隐杆线虫ARS2缺陷模型中显示出临床前疗效。

In vitro modeling of nutritional and mitochondria-targeted therapies for osteosarcoma

体外模拟营养和线粒体靶向疗法治疗骨肉瘤

Small-molecule hypoxia therapy in mitochondrial disease

小分子缺氧疗法在线粒体疾病中的应用

Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact

长期体位性心动过速综合征结局调查：教育、经济和社会影响

Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish

斑马鱼学：利用斑马鱼获得严谨且可重复数据的研究设计指南

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

在原发性线粒体疾病的诊断评估中，解读骨骼肌组织中多发性大规模线粒体DNA缺失（MLSMD）的临床意义

Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models

扎戈西呱可预防应激诱导的神经肌肉功能障碍，改善线粒体生理功能，并提高多种线粒体呼吸链疾病斑马鱼模型的运动能力。

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

单发大规模线粒体缺失综合征：儿科患者的神经影像学表型和纵向进展

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups

非洲（L）线粒体基因组单倍群原发性线粒体疾病患者线粒体DNA致病变异的流行情况