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

Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG

将HMG-CoA还原酶抑制剂阿托伐他汀重新用于SRD5A3-CDG的治疗

Daghar, Hiba; Byeon, Seul Kee; Maios, Claudia; Poon, Jennifer; Doyle, James J; Ranatunga, Wasantha; Samarut, Éric; Perlstein, Ethan O; Morava, Eva; Pandey, Akhilesh; Parker, J Alex; Kantautas, Kristin A

Metagenomic Insights into Microbial Signatures in Thrombi from Acute Ischemic Stroke Patients Undergoing Endovascular Treatment

宏基因组学视角揭示接受血管内治疗的急性缺血性卒中患者血栓中的微生物特征

Thirupathi, Kasthuri; Ghozy, Sherief; Reda, Abdullah; Ranatunga, Wasantha K; Ruben, Mars A; Armin, Zarrintan; Mereuta, Oana M; Prabhjot, Sekhon; Dai, Daying; Brinjikji, Waleed; Kallmes, David F; Kadirvel, Ramanathan

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

弗里德赖希共济失调和ALG1相关生化异常在进行性痉挛性截瘫患者中的病例报告

Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth

Personalized Medicine in Histiocytic Disorders: Novel Targets in Patients Without MAPK Alterations

组织细胞疾病的个体化治疗:MAPK通路未发生改变患者的新靶点

Smith, Katherine E R; Acosta-Medina, Aldo A; Dasari, Surendra; Ranatunga, Wasantha; Rech, Karen L; Ravindran, Aishwarya; Young, Jason R; McGarrah, Patrick W; Ruan, Gordon J; Zanwar, Saurabh S; Li, Jenny J; Sartori-Valinotti, Julio C; Snider, Jessica N; Witzig, Thomas E; Goyal, Gaurav; Go, Ronald S; Abeykoon, Jithma P

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

病例报告:ALG2-CDG 的新型基因型及七糖聚糖(NeuAc-Gal-GlcNAc-Man2-GlcNAc2)作为特异性诊断生物标志物的确认

Martínez Duncker, Ivan; Mata-Salgado, Denisse; Shammas, Ibrahim; Ranatunga, Wasantha; Daniel, Earnest James Paul; Cruz Muñoz, Mario E; Abreu, Melania; Mora-Montes, Héctor; He, Miao; Morava, Eva; Zafra de la Rosa, Gildardo

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

TRIT1缺陷会导致肌阵挛性癫痫、语言发育迟缓、斜视、进行性痉挛和乳酸水平正常等可识别的表型。

Muylle, Ewout; Jiang, Huafang; Johnsen, Christin; Byeon, Seul Kee; Ranatunga, Wasantha; Garapati, Kishore; Zenka, Roman M; Preston, Graeme; Pandey, Akhilesh; Kozicz, Tamas; Fang, Fang; Morava, Eva

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

STT3A活性位点变异会导致一种显性遗传的I型先天性糖基化障碍,并伴有神经肌肉骨骼系统症状。

Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications

山梨醇是PMM2-CDG的严重程度生物标志物,具有治疗意义

Ligezka, Anna N; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M; Reid, Joel M; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek-Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C; Ghesquière, Bart; Witters, Peter; Raymond, Kimiyo; Oglesbee, Devin; Pandey, Akhilesh; Perlstein, Ethan O; Kozicz, Tamas; Morava, Eva

Architecture of the Yeast Mitochondrial Iron-Sulfur Cluster Assembly Machinery: THE SUB-COMPLEX FORMED BY THE IRON DONOR, Yfh1 PROTEIN, AND THE SCAFFOLD, Isu1 PROTEIN

酵母线粒体铁硫簇组装机制的结构:由铁供体蛋白Yfh1和支架蛋白Isu1形成的亚复合物

Ranatunga, Wasantha; Gakh, Oleksandr; Galeano, Belinda K; Smith, Douglas Y 4th; Söderberg, Christopher A G; Al-Karadaghi, Salam; Thompson, James R; Isaya, Grazia

Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery

人类线粒体铁硫簇组装机制的结构

Gakh, Oleksandr; Ranatunga, Wasantha; Smith, Douglas Y 4th; Ahlgren, Eva-Christina; Al-Karadaghi, Salam; Thompson, James R; Isaya, Grazia