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

Olfactory Perception in Parkinson's Disease: The Impact of GBA1 Variants (Sidransky Syndrome)

帕金森病患者的嗅觉感知:GBA1 变异的影响(西德兰斯基综合征)

Cohen, Mikhal E; Shechter, Yosef; Dominko, Melania; Shulman, Elena; Dinur, Tama; Revel-Vilk, Shoshana; Eichel, Roni; Yahalom, Gilad; Becker-Cohen, Michal

Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey

利用戈谢病结局调查数据评估溶酶体Gb1作为戈谢病治疗结果生物标志物的价值

Zimran, Ari; Revel-Vilk, Shoshana; Dinur, Tama; Istaiti, Majdolen; Botha, Jaco; Lukina, Elena; Giraldo, Pilar; Deegan, Patrick; Dahl, Stephan Vom

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls

戈谢病携带者与对照组相比,帕金森病前驱症状

Becker-Cohen, Michal; Zimran, Ari; Dinur, Tama; Tiomkin, Maayan; Rolfs, Arndt; Arkadir, David; Bauer, Peter; Shulman, Elena; Yahalom, Gilad; Cohen, Mikhal E; Manor, Orly; Paltiel, Ora; Revel-Vilk, Shoshana

A multi-centre, participant-blinded, randomized, 3-year study to compare the efficacy of Virtual Surgical Planning (VSP) to Freehand Surgery (FHS) on bony union and quality of life outcomes for mandibular reconstruction with fibular and scapular free flaps: study protocol for a randomized phase II/III trial

一项多中心、受试者盲法、随机、为期3年的研究,旨在比较虚拟手术规划(VSP)与徒手手术(FHS)在腓骨和肩胛骨游离皮瓣下颌骨重建中对骨愈合和生活质量的影响:一项随机II/III期试验的研究方案

Tran, Khanh Linh; Turkdogan, Sena; Dinur, Anat Bahat; Milner, Thomas D; Wang, Edward; Nichols, Anthony; MacNeil, Danielle; Mendez, Adrian; Jervis-Bardy, Jake; De Almeida, John; Yao, Christopher; Goldstein, David; Gilbert, Ralph; Eskander, Antoine; Higgins, Kevin; Enepekides, Danny; Gupta, Michael; Zhang, Han; Au, Michael; Nguyen, Sally; Fels, Sidney; Hodgson, Antony; Brasher, Penelope; Mitton, Craig; Sabiq, Farahna; Fisher, Charles; Yang, David; Wong, Angela; Garnis, Cathie; Poh, Catherine; Durham, J Scott; Prisman, Eitan

Intraoperative Real-Time Image-Guided Fibular Harvest and Mandibular Reconstruction: A Feasibility Study on Cadaveric Specimens

术中实时图像引导下腓骨取骨及下颌骨重建:尸体标本可行性研究

Grzybowski, Georgia; Stewart, Molly Murray; Milner, Thomas D; Dinur, Anat Bahat; McGee, Orla M; Pakdel, Amir; Tran, Khanh Linh; Fels, Sidney S; Hodgson, Antony J; Prisman, Eitan

Oxygenation Instability and Short-Term Morbidities Among Very-Low-Birthweight Premature Infants

极低出生体重早产儿的氧合不稳定和短期并发症

Leikin Zach, Viktoria; Riskin, Arieh; Raizberg, Irina; Hochwald, Ori; Dinur, Gil; Breuer, Michal; Christopher Farah, Fady; Kugelman, Amir; Borenstein-Levin, Liron

A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours

一项针对戈谢病患者的大型长期数据库显示,淋巴瘤和骨髓瘤的风险增加,但实体瘤的风险并未增加。

Istaiti, Majdolen; Dinur, Tama; Paltiel, Ora; Silverman, Barbara; Revel-Vilk, Shoshana; Zimran, Ari

MyGauch(TM): a patient-centered digital health app for Gaucher disease

MyGauch™:一款以患者为中心的戈谢病数字健康应用程序

Istaiti, Majdolen; Shulman, Elena; Dinur, Tama; Frydman, Dafna; Harnevo, Linda; Farin, Moshe; Zimran, Ari; Revel-Vilk, Shoshana

Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning

采用氟达拉滨、曲奥舒凡和噻替哌预处理方案成功进行LRBA缺陷的造血干细胞移植

Shadur, Bella; NasserEddin, Adeeb; Zaidman, Irina; Schejter, Yael Dinur; Even-Or, Ehud; Berkun, Yackov; Meyts, Isabelle; Hmedat, Hatem; Sulaiman, Ashraf; Tangye, Stuart G; Stepensky, Polina

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

SENP7基因双等位基因功能缺失变异导致免疫缺陷,并伴有神经系统和肌肉表型。

Kobayashi, Erica Sanford; Lotan, Nava Shaul; Schejter, Yael Dinur; Makowski, Christine; Kraus, Verena; Ramchandar, Nanda; Meiner, Vardiella; Thiffault, Isabelle; Farrow, Emily; Cakici, Julie; Kingsmore, Stephen; Wagner, Matias; Rieber, Nikolaus; Bainbridge, Matthew