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É

Éva Morava

Icahn School of Medicine at Mount Sinai

70H指数
579论文数
1.6W被引数
收录论文 201
发表时间
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Phosphodiesterase-5 inhibition as an off-label therapy in mitochondrial disease磷酸二酯酶-5抑制作为线粒体疾病的超说明书用药疗法
errMolecular Genetics and Metabolism
IF3.5
err2026-09-16
err0
PREAI
errIbrahim Elsharkawi; Graeme Preston; Tamas Kozicz; Eva Morava
err分享
err收藏
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 – CDGPMM2 – CDG患儿疾病特异性生长曲线捕捉特征性生长模式
errMolecular Genetics and Metabolism
IF3.5
err2026-04-20
err0
errOAAI
errKyriakie Sarafoglou; Christina Lam; Andrew C. Edmondson; Andrea Miller; Rodrigo T. Starosta; Aziza Zeighami; Seishu Horikoshi; Hayden Vreugdenhil; Fernando Scaglia; Tamas Kozicz; Queenie K.G. Tan; Bradley S. Miller; Iván Martínez-Duncker; Gerard T. Berry; Peter McWilliams; Eva Morava; Yaw Addo
err分享
err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
errScience Advances
IF12.5
err2026-04-15
err0
errOAAI
errRobert Wang; Feng Wang; Nicole DeBruyne; Xinjun Ji; Nicole M. Engelhardt; Joseph Jee-Hwan Park; Amber Notaro; Samantha Gaerlan; Ryan Park; Matthew J. Schultz; Sheila Clever; Elizabeth M. McCormick; Kelsey Keith; Bobby G. Ng; Kathryn E. Kadash-Edmondson; Hudson H. Freeze; Christina T. Lam; Eva Morava; Ingo Helbig; Marni J. Falk; Rebecca D. Ganetzky; Andrew C. Edmondson; Lan Lin; Yi Xing
err分享
err收藏
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype线粒体复合物III缺乏症的可逆性代谢和肝脏疾病：新发现的变异扩展了已报道的UQCRC2相关表型
errCells
IF5.2
err2026-03-29
err0
errOAAI
errGraeme Preston; Ibrahim Shammas; Filippo Pinto e Vairo; Anna Ligezka; Carlos Alberto de Moura Aschoff; Fabiano Poswar; Ida Vanessa D. Schwartz; Tamas Kozicz; Eva Morava
err分享
err收藏
Lymphatic pumping failure in the arm precedes dermal backflow and breast cancer-related lymphedema手臂淋巴泵功能衰竭先于真皮反流和乳腺癌相关淋巴水肿
errBreast Cancer Research
IF5.6
err2026-02-17
err0
errOAAI
errMelissa B. Aldrich; Meghan E. McWain; Simona F. Shaitelman; Rian E. Kuhns; John C. Rasmussen; Wendy A. Woodward; Sarah M. DeSnyder; Wenyaw Chan; Eva M. Sevick-Muraca
err分享
err收藏
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDGALG13-CDG的网络功能减退: 发育途径中断和E/I失衡是CDG神经功能的早期驱动因素
errCells
IF5.2
err2026-01-30
err0
errOAAI
errRameen Shah; Rohit Budhraja; Silvia Radenkovic; Graeme Preston; Alexia Tyler King; Sahar Sabry; Charlotte Bleukx; Ibrahim Shammas; Lyndsay Young; Jisha Chandran; Seul Kee Byeon; Ronald Hrstka; Doughlas Y. Smith IV; Nathan P. Staff; Richard Drake; Steven A. Sloan; Akhilesh Pandey; Eva Morava; Tamas Kozicz
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err收藏
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape原发性线粒体疾病中生存与死亡相关的咨询和预后挑战：重塑一个曾黯淡无光的领域
errPediatric Neurology
IF2.1
err2025-11-27
err0
PREAI
errIbrahim Elsharkawi; Amy Goldstein; Rebecca D. Ganetzky; Eva Morava
err分享
err收藏
Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”勘误：“Phosphomannomutase 2-congenital disorder of glycosylation的发病率和患病率：过去、现在和未来 [Molecular Genetics and Metabolism 146 (2025) 109188]”
errMolecular Genetics and Metabolism
IF3.5
err2025-10-14
err0
errOAAI
errAndrew C. Edmondson; Tomas Honzik; Christina Lam; Katrin Ounap; Peter McWilliams; Eva Morava
err分享
err收藏
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction携带新型纯合变异TOP3Α导致线粒体功能障碍的儿科心脏移植患者预后
errMolecular Genetics and Metabolism
IF3.5
err2025-09-22
err0
PREAI
errJ. Ganesh; C. Donnelly; A. Ligezka; G. Preston; E. Morava; M. Breilyn; I. Marin-Valencia; H. Raynes; N. Bansal; J. Lamour; C. Mintz; T. Kozicz
err分享
err收藏
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case ReportElamipretide在Barth综合征管理中的应用：当前证据与病例报告
errMolecular Genetics and Metabolism
IF3.5
err2025-08-11
err0
PREAI
errNeil Jacob; Daniel Schecter; Molly Marshall; Neha Bansal; Jacqueline Lamour; Hilary Vernon; Eva Morava; Ibrahim Elsharkawi
err分享
err收藏
Corrigendum to ‘Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations’ [Molecular Genetics and Metabolism Volume 146, Issues 1-2 (2025) Pages 109197]勘误：‘在原发性线粒体疾病中，磷酸二酯酶5型抑制作为一种治疗策略：来自患者成纤维细胞和临床观察的证据’ [《分子遗传学与代谢杂志》第146卷，第1-2期（2025年），第109197页]
errMolecular Genetics and Metabolism
IF3.5
err2025-08-09
err0
PREAI
errG. Preston; N. Jacob; I. Elsharkawi; E. Morava; T. Kozicz
err分享
err收藏
Reframing primary mitochondrial disease as a sterile interferonopathy将原发性线粒体疾病重新定义为无菌性干扰素病
errMolecular Genetics and Metabolism
IF3.5
err2025-07-30
err0
PREAI
errEva Morava; Ibrahim Elsharkawi; Tamas Kozicz
err分享
err收藏
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations磷酸二酯酶5型抑制作为原发性线粒体疾病的治疗策略：来自患者成纤维细胞和临床观察的证据
errMolecular Genetics and Metabolism
IF3.5
err2025-07-24
err0
PREAI
errGraeme Preston; Neil Jacob; Ibrahim Elsharkawi; Eva Morava; Tamas Kozicz
err分享
err收藏
Are viral vector-mediated therapies compatible with aberrant glycosylation?病毒载体介导的治疗方法与异常糖基化是否兼容？
errMolecular Therapy Methods & Clinical Development
IF4.7
err2025-07-22
err0
errOAAI
errI.J.J. Muffels; R. Budhraja; S. Radenkovic; R. Shah; A. Pandey; E. Morava; T. Kozicz
err分享
err收藏
Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS利用多组学方法预测糖基化先天性障碍的跨疾病治疗策略
errMolecular Genetics and Metabolism
IF3.5
err2025-07-19
err0
PREAI
errI.J.J. Muffels; R. Budhraja; R. Shah; S. Radenkovic; E. Morava; T. Kozicz
err分享
err收藏
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 casesGMPPA-先天性糖基化障碍的表型和基因型描述：26例病例综述
errMolecular Genetics and Metabolism
IF3.5
err2025-07-18
err0
PREAI
errRuqaiah Altassan; Sarah K. Aldhahri; Georgia Macdonald; Rameen Shah; Eva Morava
err分享
err收藏
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future磷酸甘露糖变位酶2-先天性糖基化障碍的发病率和患病率：过去、现在与未来
errMolecular Genetics and Metabolism
IF3.5
err2025-07-13
err0
errOAAI
errAndrew C. Edmondson; Tomáš Honzík; Christina Lam; Katrin Õunap; Peter McWilliams; Eva Morava
err分享
err收藏
Dolichol synthesis defects: a cautionary note on the use of statins多萜醇合成缺陷：关于他汀类药物使用的警示性说明
errMolecular Genetics and Metabolism
IF3.5
err2025-07-03
err0
PREAI
errMatthew P. Wilson; Eva Morava
err分享
err收藏
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationSLC35A2-CDG中糖鞘脂合成受损，且可通过添加半乳糖得到改善。
errCellular and Molecular Life Sciences
IF6.2
err2025-06-27
err0
errOAAI
errAndrea Jáñez Pedrayes; Sam De Craemer; Jakub Idkowiak; Dries Verdegem; Christian Thiel; Rita Barone; Mercedes Serrano; Tomáš Honzík; Eva Morava; Pieter Vermeersch; François Foulquier; Willy Morelle; Johannes V. Swinnen; Daisy Rymen; David Cassiman; Bart Ghesquière; Peter Witters
err分享
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Mitochondria as the key to understanding neuroinflammation线粒体作为理解神经炎症的关键
errBrain
IF11.7
err2025-05-06
err0
errOAAI
errTamas Kozicz; Eva Morava
err分享
err收藏

研究方向

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合作学者
合作期刊
D
Daniel J. Rader
H 指数: 172 · 论文数: 1.5K
J
John J.P. Kastelein
H 指数: 166 · 论文数: 1.1K
S
Stephen W. Scherer
H 指数: 161 · 论文数: 1.1K
C
Christine E. Seidman
H 指数: 151 · 论文数: 709
J
Joseph Loscalzo
H 指数: 141 · 论文数: 1.0K
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