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

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness

SPTBN4相关神经发育障碍伴肌张力低下、神经病变和耳聋的自然史

AlQudairy, Hanan; AlMuhaizea, Mohammad A; Tohary, Mohamed; Alfuraih, Maissa; Alnafisah, Aisha; AlHargan, Aljouhra; Albader, Anoud; Jaber, Hadeel; Almass, Rawan; Albakheet, Albandary; Alsheddi, Terfa; AlObeid, Eman; Alrasheed, Maha M; Al-Odaib, Ali; AlZaidan, Hamad; AlSayed, Moeenaldeen D; Kaya, Namik

Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements

针对所有类型脊髓性肌萎缩症 (SMA) 的开创性疗法:生存获益、成本动态和基于绩效的协议

Al-Jedai, Ahmed; Al-Mudaiheem, Hajer; AlSakran, AlJohara; Bashiri, Fahad A; Ghamdi, Fouad; Almuhaizea, Mohammad A; AlSamman, Abdulaziz; Awad, Nancy; Ojeil, Rita

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

ISCA2基因中的一种新型错义突变导致异常剪接,进而引发多发性线粒体功能障碍综合征4。

Al-Hassnan, Zuhair; AlDosary, Mazhor; AlHargan, Aljouhra; AlQudairy, Hanan; Almass, Rawan; Alahmadi, Khaled Omar; AlShahrani, Saif; AlBakheet, Albandary; Almuhaizea, Mohammad A; Taylor, Robert W; Colak, Dilek; Kaya, Namik

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

SLC4A10 突变导致与 GABA 能传递受损相关的神经系统疾病

James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Nderim Kryeziu, Saskia B Wortmann, Joseph S Leslie, Nishanka Ubeyratna, Grazia M S Mancini, Marjon van Slegtenhorst, Martina Wilke, Tobias B Haack, Hanan E Shamseldin, Joseph G Gleeson, Mohamed Almuhaizea, Imad Dweika

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features

通过发现3个新的突变和临床特征,扩展ATP1A3相关疾病的等位基因谱。

Alyamani, Suad A; Aldhalaan, Hesham M; Almuhaizea, Mohammed A; Abukhalid, Musaad F

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature

SHQ1相关神经发育障碍:首例非亲缘关系患者纯合变异病例报告及文献综述

AlHargan, Aljouhra; AlMuhaizea, Mohammed A; Almass, Rawan; Alwadei, Ali H; Daghestani, Maha; Arold, Stefan T; Kaya, Namik

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

扩展YIF1B相关脑疾病的突变图谱和临床表型

Medico Salsench, Eva; Maroofian, Reza; Deng, Ruizhi; Lanko, Kristina; Nikoncuk, Anita; Pérez, Belén; Sánchez-Lijarcio, Obdulia; Ibáñez-Mico, Salvador; Wojcik, Antonina; Vargas, Marcelo; Abbas Al-Sannaa, Nouriya; Girgis, Marian Y; Silveira, Tainá Regina Damaceno; Bauer, Peter; Schroeder, Audrey; Fong, Chin-To; Begtrup, Amber; Babaei, Meisam; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Doosti, Mohammad; Ahangari, Najmeh; Najarzadeh Torbati, Paria; Ghayoor Karimiani, Ehsan; Murphy, David; Cali, Elisa; Kaya, Ibrahim H; AlMuhaizea, Mohammad; Colak, Dilek; Cardona-Londoño, Kelly J; Arold, Stefan T; Houlden, Henry; Bertoli-Avella, Aida; Kaya, Namik; Barakat, Tahsin Stefan

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

MEGF10变异导致先天性肌病的表型变异:来自高度近亲结婚人群的两例无关患者的报告

AlMuhaizea, Mohammad; Dabbagh, Omar; AlQudairy, Hanan; AlHargan, Aljouhra; Alotaibi, Wafa; Sami, Ruba; AlOtaibi, Rahaf; Ali, Mariam Mahmoud; AlHindi, Hindi; Colak, Dilek; Kaya, Namik

Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study

结节性硬化症:临床表现谱与癫痫:一项回顾性病历分析研究

Almobarak, Sulaiman; Almuhaizea, Mohammad; Abukhaled, Musaad; Alyamani, Suad; Dabbagh, Omar; Chedrawi, Aziza; Khan, Sameena; Aldhalaan, Hesham