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

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes

PGM1 缺乏与患者来源的 iPSC 心肌细胞的肌节和线粒体功能障碍有关

Radenkovic, Silvia; Preston, Graeme; Budhraja, Rohit; Muffels, Irena; Ligezka, Anna; Staff, Nathan P; Hrstka, Ron; Balakrishnan, Bijina; Shah, Rameen; Verberkmoes, Sanne; Shammas, Ibrahim; Bosnyak, Inez; Stiers, Kyle M; Lai, Kent; Beamer, Lesa J; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病:新变异扩展了已报道的 UQCRC2 相关表型

Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

ALG13-CDG中的网络活动减弱:发育通路紊乱和兴奋/抑制失衡是CDG神经系统特征的早期驱动因素

Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y 4th; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis

包涵体肌炎中线粒体呼吸的多层次损伤及其性别特异性特征

Shammas, Ibrahim; Iaali, Hazem; Watzlawik, Jens O; Folch, Noemi Vidal; Dasari, Surendra; Preston, Graeme; Nguyen, Thi Kim Oanh; Springer, Wolfdieter; Kozicz, Tamas; Hasadsri, Linda; Trushina, Eugenia; Lanza, Ian R; Naddaf, Elie

Mitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism

包涵体肌炎的线粒体中心代谢组学图谱:中心碳代谢的性别特异性改变

Naddaf, Elie; Shammas, Ibrahim; Dasari, Surendra; Petterson, Xuan-Mai T; Springer, Wolfdieter; Trushina, Eugenia; Lanza, Ian R

Increased Risk of Myocardial Infarction in Inclusion Body Myositis: A Non-Concurrent Cohort Study

包涵体肌炎患者发生心肌梗死的风险增加:一项非同期队列研究

Beecher, Grayson; Muhammad, Sara; Shammas, Ibrahim; Chamberlain, Alanna M; Larson, Kathryn; Mandrekar, Jay; Harmsen, William S; Naddaf, Elie

Epidemiological and clinicopathological characteristics of ovarian cancer in Syria during the war years: a national multicenter retrospective study (2017-2021)

叙利亚战争时期卵巢癌的流行病学和临床病理学特征:一项全国多中心回顾性研究(2017-2021 年)

Apelian, Shant; Hamdan, Alaa; Mohammad, Rita; Abbas, Aram; Rizvi, Saliha; Rashid, Gowhar; Harfouch, Rim M; Maarrawi, Shahd; Aladna, Abdallah; Shammas, Ibrahim; Boubou, Mounzer; Georgeos, Michael; Alshehabi, Zuheir; Salman, Safa K

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

弗里德赖希共济失调和ALG1相关生化异常在进行性痉挛性截瘫患者中的病例报告

Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG

ALG13功能缺失会改变糖基化,损害神经元成熟,并在CDG皮质类器官模型中导致网络活动减弱。

Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model

PGM1 缺乏会破坏干细胞心肌细胞模型中的肌节和线粒体功能

Radenkovic, Silvia; Preston, Graeme; Budhraja, Rohit; Muffels, Irena; Ligezka, Anna; Staff, Nathan P; Hrstka, Ron; Balakrishnan, Biijina; Shah, Rameen; Verberkmoes, Sanne; Shammas, Ibrahim; Bosnyak, Inez; Stiers, Kyle M; Lai, Kent; Beamer, Lesa J; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas