Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study [0.03%]
阿维糖苷酶alfa治疗进行性加重的晚发型庞贝病患者的真实世界疗效研究：一项法国队列研究一年后的结果
Céline Tard,Françoise Bouhour,Maud Michaud et al.
Céline Tard et al.
Introduction: Late-onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α-glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but l...
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group [0.03%]
原发性线粒体疾病患者的癫痫管理：InterERN工作组共识陈述
Michelangelo Mancuso,Maria T Papadopoulou,Yi Shiau Ng et al.
Michelangelo Mancuso et al.
Background and purpose: Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requireme...
Real-world persistence of multiple sclerosis disease-modifying therapies [0.03%]
多发性硬化症疾病修正疗法的现实世界的持久性
Emma C Tallantyre,Ruth Dobson,Joseph L J Froud et al.
Emma C Tallantyre et al.
Background and purpose: Treatment persistence is the continuation of therapy over time. It reflects a combination of treatment efficacy and tolerability. We aimed to describe real-world rates of persistence on disease-mod...
Bernhard J Steinhoff
Bernhard J Steinhoff
Association of diabetes mellitus with dementia- and non-dementia-related mortality amongst women: a secondary competing risks analysis of the California Teachers Study [0.03%]
糖尿病与女性痴呆症和非痴呆症相关死亡率之间的关联——加州教师研究的二次竞争风险分析
Cathleen Morgan,Bradon Annegers,Matthew K Taylor et al.
Cathleen Morgan et al.
Background and purpose: The prevalence of dementia is rapidly increasing. Attempts to further understand modifiable risk factors such as diabetes mellitus (DM) are urgently needed to inform public health policies for prev...
Beyond T cell toxicity - Intrathecal chemokine CXCL13 indicating B cell involvement in immune-related adverse events following checkpoint inhibition: A two-case series and literature review [0.03%]
T细胞毒性之外-自身免疫检查点抑制后的免疫相关不良事件中B细胞参与的脑脊液趋化因子CXCL13指标：两例报告及文献回顾
Ferdinand Otto,Michael Seiberl,Lara Bieler et al.
Ferdinand Otto et al.
Background and purpose: This study was undertaken to raise awareness of a role of B cells in immune checkpoint inhibitor (ICI)-associated neurological immune-related adverse events (nirAE). ...
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids [0.03%]
皮质类固醇治疗的大规模杜氏肌营养不良症成人患者的功能能力、呼吸和心脏功能状况
Marianela Schiava,Robert Muni Lofra,John P Bourke et al.
Marianela Schiava et al.
Background and purpose: The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, ...
Niklas Giesche,Samuel Tobias Böhm-Gonzalez,Benedict Kleiser et al.
Niklas Giesche et al.
Background and purpose: Antiganglioside antibodies (AGAs) might be involved in the etiopathogenesis of many neurological diseases, such as Miller-Fisher syndrome (MFS) and Guillain-Barré syndrome (GBS). Available compreh...
Friedrich Medlin,Davide Strambo,Dimitris Lambrou et al.
Friedrich Medlin et al.
Background and purpose: Women with acute ischemic stroke (AIS) are older and have greater preexisting handicap than men. Given that these factors do not fully explain their poorer long-term outcomes, we sought to investig...
Therapeutic choices and disease activity after 2 years of treatment with cladribine: An Italian multicenter study (CladStop) [0.03%]
克拉德里滨治疗2年后的影响因素和疾病活动性：一项意大利多中心研究（CladStop）
Irene Schiavetti,Alessio Signori,Angela Albanese et al.
Irene Schiavetti et al.
Background and purpose: Cladribine tablets, a purine analogue antimetabolite, offer a unique treatment regimen, involving short courses at the start of the first and second year, with no further treatment needed in years ...
Multicenter Study
European journal of neurology. 2024 Jun;31(6):e16250. DOI:10.1111/ene.16250 2024