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

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

SNUPN 缺乏症会因 RNA 剪接错误和 ECM 失调而导致隐性肌营养不良症

期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-024-45933-5
Marwan Nashabat #, Nasrinsadat Nabavizadeh #, Hilal Pırıl Saraçoğlu #, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fa
信号转导
Adhesion/ECM
发表日期：2024
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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

mRNA 脱帽缺陷的双等位基因 NUDT2 变体可导致神经发育疾病

期刊:Brain
影响因子:10.6
doi:10.1093/brain/awad434
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Wal
神经
发表日期：2024
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Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

突变的VWA8基因与斑马鱼发育迟缓、小头畸形和脊柱侧弯相关，并在斑马鱼早期发育和骨骼形态发生中发挥新的作用。

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2021.736960
Umair, Muhammad; Farooq Khan, Muhammad; Aldrees, Mohammed; Nashabat, Marwan; Alhamoudi, Kheloud M; Bilal, Muhammad; Alyafee, Yusra; Al Tuwaijri, Abeer; Aldarwish, Manar; Al-Rumayyan, Ahmed; Alkhalaf, Hamad; Wadaan, Mohammad A M; Alfadhel, Majid
发育与干细胞
发表日期：2021
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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

DCBLD2基因的纯合无义突变是发育迟缓、面部畸形和限制性心肌病的一个潜在病因。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-021-92026-0
Alhamoudi, Kheloud M; Barhoumi, Tlili; Al-Eidi, Hamad; Asiri, Abdulaziz; Nashabat, Marwan; Alaamery, Manal; Alharbi, Masheal; Alhaidan, Yazeid; Tabarki, Brahim; Umair, Muhammad; Alfadhel, Majid
心血管
发育与干细胞
心肌病
发表日期：2021
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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

卡谷氨酸治疗丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 患者的长期疗效：一项随机临床试验

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-02032-8
Alfadhel, Majid; Nashabat, Marwan; Saleh, Mohammed; Elamin, Mohammed; Alfares, Ahmed; Al Othaim, Ali; Umair, Muhammad; Ahmed, Hind; Ababneh, Faroug; Al Mutairi, Fuad; Eyaid, Wafaa; Alswaid, Abdulrahman; Alohali, Lina; Faqeih, Eissa; Almannai, Mohammed; Aljeraisy, Majed; Albdah, Bayan; Hussein, Mohamed A; Rahbeeni, Zuhair; Alasmari, Ali
多发性骨髓瘤
发表日期：2021
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Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

儿童卒中的遗传代谢病因：机制、类型和治疗

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2021.633119
Tabarki, Brahim; Hakami, Wejdan; Alkhuraish, Nader; Graies-Tlili, Kalthoum; Nashabat, Marwan; Alfadhel, Majid
代谢
发表日期：2021
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Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

RAP1GDS1基因突变会导致一种新的综合征，其特征为面部畸形、智力障碍和语言发育迟缓。

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.51059
Asiri, Abdulaziz; Aloyouni, Essra; Umair, Muhammad; Alyafee, Yusra; Al Tuwaijri, Abeer; Alhamoudi, Kheloud M; Almuzzaini, Bader; Al Baz, Abeer; Alwadaani, Deemah; Nashabat, Marwan; Alfadhel, Majid
发育与干细胞
发表日期：2020
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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

23例沙特阿拉伯胱氨酸尿症患者的表型多样性及遗传病因：一项回顾性研究

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2020.569389
Alghamdi, Malak; Alhasan, Khalid A; Taha Elawad, Areej; Salim, Suha; Abdelhakim, Marwa; Nashabat, Marwan; Raina, Rupesh; Kari, Jameela; Alfadhel, Majid
发表日期：2020
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A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial

一项针对中重度新冠肺炎住院成人患者的法匹拉韦联合羟氯喹治疗试验：一项随机对照试验研究方案的结构化摘要

期刊:Trials
影响因子:2
doi:10.1186/s13063-020-04825-x
Bosaeed, Mohammad; Mahmoud, Ebrahim; Hussein, Mohammad; Alharbi, Ahmad; Alsaedy, Abdulrahman; Alothman, Adel; Aljeraisy, Majed; Alqahtani, Hajar; Nashabat, Marwan; Almutairi, Badriah; Almaghaslah, Manar; Aldibasi, Omar; AlJohani, Sameera; Bouchama, Abderrezak; Arabi, Yaseen; Alaskar, Ahmad
肺炎
新冠
微生物学
发表日期：2020
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Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

7例亚甲基四氢叶酸还原酶缺乏症患者的临床表现

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2020.100644
Aljassim, Nada; Alfadhel, Majid; Nashabat, Marwan; Eyaid, Wafa
发表日期：2020
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