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

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

显性横纹肌溶解症与复发性 ATP2A2 变异体有关,该变异体可降低肌肉中 SERCA2 的功能。

Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Šikić, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schänzer, Anne; Küsters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadža, Danijela Petković; Jakovčević, Antonia; Žigman, Tamara; Čavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Barić, Ivo; Lochmüller, Hanns

Serum Proteomic and Metabolomic Signatures of High Versus Low Physical Function in Octogenarians

八旬老人高体能与低体能的血清蛋白质组学和代谢组学特征

Ubaida-Mohien, Ceereena; Moaddel, Ruin; Spendiff, Sally; MacMillan, Norah J; Filion, Marie-Eve; Morais, Jose A; Candia, Julián; Fitzgerald, Liam F; Taivassalo, Tanja; Coen, Paul M; Ferrucci, Luigi; Hepple, Russell T

Carbohydrate mouth-rinsing does not rescue simulated time trial performance in trained endurance cyclists following a 5-day ketogenic diet

碳水化合物漱口并不能改善训练有素的耐力自行车运动员在进行5天生酮饮食后的模拟计时赛成绩。

Guppy, Guy; Brouner, James; Spendiff, Owen

Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice

半乳糖治疗可挽救谷氨酰胺-果糖-6-磷酸转氨酶1 (Gfpt1) 缺陷小鼠的神经肌肉接头传递功能

Holland, Stephen Henry; Carmona-Martinez, Ricardo; O'Neil, Daniel; Ho, Kelly; O'Connor, Kaela; Azuma, Yoshiteru; Roos, Andreas; Spendiff, Sally; Lochmüller, Hanns

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

利用多层网络构建的罕见病研究工作流程阐明了先天性重症肌无力综合征严重程度的分子决定因素

Núñez-Carpintero, Iker; Rigau, Maria; Bosio, Mattia; O'Connor, Emily; Spendiff, Sally; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel; 't Hoen, Peter A C; Chamova, Teodora; Tournev, Ivailo; Guergueltcheva, Velina; Laurie, Steven; Beltran, Sergi; Capella-Gutiérrez, Salvador; Cirillo, Davide; Lochmüller, Hanns; Valencia, Alfonso

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

骨骼肌中谷氨酰胺-果糖-6-磷酸转氨酶 1 (Gfpt1) 的缺乏导致烟碱乙酰胆碱受体 (AChRδ) δ 亚基的糖基化降低

Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O'Connor, Daniel O'Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

离子迁移率QTOF-MS非靶向人血清脂质组学揭示GNE肌病代谢指纹图谱

Manis, Cristina; Casula, Mattia; Roos, Andreas; Hentschel, Andreas; Vorgerd, Matthias; Pogoryelova, Oksana; Derksen, Alexa; Spendiff, Sally; Lochmüller, Hanns; Caboni, Pierluigi

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

利用人群遗传数据库估算GNE肌病患病率

Derksen, Alexa; Thompson, Rachel; Shaikh, Madeeha; Spendiff, Sally; Perkins, Theodore J; Lochmüller, Hanns

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

线粒体突变可改变先天性肌无力综合征和线粒体疾病中的神经肌肉传递

O'Connor, Kaela; Spendiff, Sally; Lochmüller, Hanns; Horvath, Rita

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models

突触前先天性肌无力综合征:通过体内模型了解临床表型

Pugliese, Alessia; Holland, Stephen H; Rodolico, Carmelo; Lochmüller, Hanns; Spendiff, Sally