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

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial

鞘内注射onasemnogene abeparvovec治疗初治脊髓性肌萎缩症患者:一项3期随机对照试验

Proud, Crystal M; Vũ, Dũng Chí; Wilmshurst, Jo M; Sanmaneechai, Oranee; Gulati, Sheffali; Xiong, Hui; Moreno, Hugo C; Tay, Stacey Kiat Hong; Thong, Meow-Keong; Born, Alfred Peter; Banzzatto Ortega, Adriana; Jong, Yuh-Jyh; Al-Muhaizea, Mohammad A; Lee, Anna W; Visootsak, Jeannie; Tauscher-Wisniewski, Sitra; Alecu, Iulian; Parlikar, Rutvick; Finkel, Richard S

Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia

沙特阿拉伯杜氏肌营养不良症的遗传、临床和治疗特征

AlSaman, Abdulaziz S; Ghamdi, Fouad Al; Bamaga, Ahmed K; AlShaikh, Nahla; Al Muqbil, Mohammed; Muthaffar, Osama; Bashiri, Fahad A; Ali, Baleegh; Qashqari, Hebah; Heider, Elena; Itani, Ahmad; Alshahrani, Abdullah A; Al Muhaizea, Mohammed A

Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study

使用多重反应监测串联质谱法对干血斑中的肌营养不良蛋白进行定量分析,作为杜氏肌营养不良症的诊断生物标志物:一项初步研究

Refat M Nimer, Khalid M Sumaily, Arwa Almuslat, Mai Abdel Jabar, Essa M Sabi, Mohammad A Al-Muhaizea, Anas M Abdel Rahman

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

肌苷三磷酸焦磷酸酶(ITPase)缺乏症引起的发育性和癫痫性脑病的临床放射学特征、分子谱及预后因素鉴定

Scala, Marcello; Wortmann, Saskia B; Kaya, Namik; Stellingwerff, Menno D; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G; Yildiz, Yilmaz; Ceylan, Ahmet C; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A; Alshwameen, Meznah O; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H; AlRasheed, Maha M; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A; García Cazorla, M Ángeles; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P; Taylor, Jenny C; Alsaif, Hessa S; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y; Elbendary, Hasnaa M; Striano, Pasquale; Alkuraya, Fowzan S; Zaki, Maha S; Gleeson, Joseph G; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S; Maroofian, Reza; Houlden, Henry

Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia

沙特阿拉伯杜氏肌营养不良症患者的回顾性观察研究的患者人口统计学特征

AlSaman, Abdulaziz S; Al Ghamdi, Fouad; Bamaga, Ahmed K; AlShaikh, Nahla; Al Muqbil, Mohammed; Muthaffar, Osama; Bashiri, Fahad A; Ali, Baleegh; Mulayim, Arzu; Heider, Elena; Alshahrani, Abdullah A; Al Muhaizea, Mohammed A

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic

关于2019冠状病毒病大流行期间沙特阿拉伯杜氏肌营养不良症管理的共识声明

Bamaga, Ahmed K; Alghamdi, Fouad; Alshaikh, Nahla; Altwaijri, Waleed; Bashiri, Fahad A; Hundallah, Khalid; Abukhaled, Musaad; Muthaffar, Osama Y; Al-Mehmadi, Sameer; Jamaly, Tahani Ahmed; Al-Muhaizea, Mohammad A; Al-Saman, Abdulaziz

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy

除了常规血气分析之外,慢性脑病这种容易发现但却容易被漏诊的疾病也可能被忽视。

AlFaris, Haya S; Elhissi, Ghasan; Chedrawi, Aziza; Al-Muhaizea, Mohammad A

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

NCKAP1 破坏性变异会导致具有自闭症核心特征的神经发育障碍

Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K Chung, Rebecca Hernan, Fowzan S Alkuraya, Ahood Alsulaiman, Mohammad A Al-Muhaizea, Gaetan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J Brown, Elena Savva, Samantha A

The natural history of infantile neuroaxonal dystrophy

婴儿神经轴索营养不良的自然史

Altuame, Fadie D; Foskett, Gretchen; Atwal, Paldeep S; Endemann, Sarah; Midei, Mark; Milner, Peter; Salih, Mustafa A; Hamad, Muddathir; Al-Muhaizea, Mohammad; Hashem, Mais; Alkuraya, Fowzan S