Characterization of novel CASQ1 variants in two families with unusual phenotypic features [0.03%]
两个家族中具有特殊表型特征的新型CASQ1变异的特征描述
Milla Laarne,Manu Jokela,Fang Zhao et al.
Milla Laarne et al.
Background: Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or, less commonly, tubu...
Is therapy-free remission a realistic goal with cladribine tablets in multiple sclerosis? New insights into the mechanism of action and clinical implications of immune reconstitution with cladribine tablets in MS therapy [0.03%]
克拉屈滨片治疗多发性硬化症的无治疗缓解目标及该药物对多发性硬化症治疗作用机制和临床意义的新见解
C Kleinschnitz,T Skripuletz,S Pfeuffer et al.
C Kleinschnitz et al.
Oral cladribine is a highly effective pulsed selective immune reconstitution therapy (SIRT) that received approval for the treatment of relapsing multiple sclerosis (RMS) in 2017. The concept of SIRT is characterized by brief exposure to ac...
Functional connectivity changes are associated with disability progression in multiple sclerosis: a longitudinal fMRI study [0.03%]
功能连接改变与多发性硬化症致残进展相关的一项纵向fMRI研究
Claudia Piervincenzi,Abhineet Ojha,Silvia Tommasin et al.
Claudia Piervincenzi et al.
Background: Resting-state functional connectivity (FC) alterations in people with multiple sclerosis (PwMS) have been hypothesized to reflect either adaptive or maladaptive plasticity. Investigating FC longitudinal evolut...
Differentiation between anti-CASPR2 encephalitis with initial psychiatric symptoms and primary psychiatric disorders, and a diagnostic prediction model: a prospective descriptive study [0.03%]
抗CASPR2脑炎初始精神症状与原发性精神障碍的鉴别诊断及预测模型的建立：一项前瞻性描述性研究
Xiaohong Qin,Yunsen He,Fugui Jiang et al.
Xiaohong Qin et al.
Background: Anti-contactin-associated protein-like 2 (anti-CASPR2) encephalitis is highly susceptible to misdiagnosis as a primary psychiatric disorder when isolated psychiatric symptoms occur in its early stage. ...
Neurological involvement in IgG4-related disease: focus on neuro-ophthalmologic features [0.03%]
IgG4相关疾病神经系统受累：着眼神经眼病特征
Doruk Arslan,Ayse Ilksen Colpak,Gozde Kubra Yardimci et al.
Doruk Arslan et al.
Background: IgG4-related disease (IgG4-RD) is a fibroinflammatory disorder that can affect multiple organs, yet neurological involvement has been considered rare and remains under-characterized. ...
Alexandra Balshi,John P Dempsey,Sachin Kumbar et al.
Alexandra Balshi et al.
Multiple sclerosis (MS) is most frequently diagnosed in women between the ages of 20-40, often coinciding with child-rearing years. In this analysis of MS diagnostic delay stratified by parenthood status, women with children had longer time...
Postural orthostatic tachycardia syndrome is the most frequent cardiovascular autonomic disorder following COVID-19 infection or vaccination [0.03%]
新冠病毒感染或接种疫苗后继发的最常见的心血管自主神经异常是体位性心动过速综合征
Fabian Leys,Mara Verginer,Elias Kirchler et al.
Fabian Leys et al.
Background: Cardiovascular autonomic disorders (CAD) were described following COVID-19 infection and vaccination, but previous reports were limited in size and follow-up. Here, we aimed to investigate the type and frequen...
Diagnostic performance of PET-based artificial intelligence for differentiating Parkinson's disease from normal controls or atypical parkinsonism: a systematic review and meta-analysis [0.03%]
基于PET的人工智能鉴别帕金森病与正常对照或非典型帕金森综合征的诊断准确性：系统综述和meta分析
Zhichun Liu,Jiahe Wu,Qi Zhang et al.
Zhichun Liu et al.
Purpose: This study aims to evaluate the diagnostic performance of PET-based artificial intelligence (AI) for differentiating Parkinson's disease (PD) from normal controls (NC) or atypical parkinsonism (AP). ...
The genetic architecture of primary lateral sclerosis in a cohort of Italian patients [0.03%]
意大利原发性侧索硬化患者的遗传结构研究
Paride Schito,Teuta Domi,Tommaso Russo et al.
Paride Schito et al.
Background and purpose: Recent studies suggest that primary lateral sclerosis (PLS) may have a genetic component. In this work, we performed a next-generation sequencing (NGS) analysis in order to explore the genetic arch...