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

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

EEFSEC 缺乏症:一种伴有早发性神经退行性变的硒病

Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A; Atanasova, Mihaela; Jr, Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J; Diebold, Uta; Mueller, Amelie J; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S; Gan-Or, Ziv; Haack, Tobias B

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

Tranexamic Acid in Non-Traumatic Intracerebral Haemorrhage (TANICH II): Introducing the Potential Role of 3 g Tranexamic Acid in Haematoma Reduction

氨甲环酸治疗非创伤性脑出血(TANICH II):介绍 3 克氨甲环酸在减少血肿方面的潜在作用

Arumugam, Ananda; Tan, Shze Ee; Tan, Sze Ling; Tan, Jun Ee; Hussin, Fatimah Hartina; Zenian, Mohd Sofan; Idris, Zamzuri; Abdullah, Jafri Malin

Comparison of Two Root Canal Filling Techniques: Obturation with Guttacore Carrier Based System and Obturation with Guttaflow2 Fluid Gutta-Percha

两种根管充填技术的比较:Guttacore载体系统充填法与Guttaflow2液态牙胶充填法。

Migliau, Guido; Palaia, Gaspare; Pergolini, Daniele; Guglielmelli, Tommaso; Fascetti, Roberta; Sofan, Afrah; Del Vecchio, Alessandro; Romeo, Umberto

Risk Prediction of Cerebral Infarction after Anterior Circulation Aneurysm Rupture in an Under-Equipped Centre

在医疗资源匮乏的中心,对前循环动脉瘤破裂后脑梗死的风险进行预测

Vinodh, Vayara Perumall; Ghani, Abdul Rahman Izaini; Kandasamy, Regunath; Sellamuthu, Pulivendhan; Zenian, Mohd Sofan; Keowmani, Thamron

Patient Outcomes following Immediate Tracheostomy and Emergency Decompressive Craniectomy in the Same Setting

在同一环境下行即刻气管切开术和紧急去骨瓣减压术后的患者预后

Kumar, Ramesh; Zenian, Mohd Sofan; Maeng, Tang Yiu; Fadzil, Farizal; Mohd Azli, Anis Nabillah

Using acute hypervolaemic haemodilution as blood conservation technique in a Jehovah's witness patient undergoing an emergency transphenoidal surgery: a Sabah experience

在一位接受紧急经蝶手术的耶和华见证人患者中,采用急性高容量血液稀释作为血液保护技术:沙巴州的经验

Yeap, Tat Boon; Teah, Ming Kai; Zenian, Sofan

Smartphones in remote medicine and daily neurosurgery: The Sabah update

智能手机在远程医疗和日常神经外科手术中的应用:沙巴最新进展

Perumall, Vinodh Vayara; Sellamuthu, Pulivendhan; Harun, Rahmat; Zenian, Mohd Sofan

Better Glasgow outcome score, cerebral perfusion pressure and focal brain oxygenation in severely traumatized brain following direct regional brain hypothermia therapy: A prospective randomized study

直接局部脑低温疗法可改善严重脑外伤患者的格拉斯哥预后评分、脑灌注压和局部脑氧合:一项前瞻性随机研究

Idris, Zamzuri; Zenian, Mohd Sofan; Muzaimi, Mustapha; Hamid, Wan Zuraida Wan Abdul

Evaluation of alveolar cortical bone thickness and density for orthodontic mini-implant placement

正畸微型种植体植入前牙槽皮质骨厚度和密度的评估

Cassetta, Michele; Sofan, Aisha Aa; Altieri, Federica; Barbato, Ersilia