Rapid efficacy of efgartigimod for generalized myasthenia gravis patients in acute exacerbations/worsening: multicenter real-world retrospective study [0.03%]
艾加替莫双抗治疗重症肌无力急性加重患者的疗效：多中心回顾性研究
Jing Lin,Ting Chang,Lianchen Xiao et al.
Jing Lin et al.
Background and objectives: Acute exacerbations/worsening of generalized myasthenia gravis (gMG) require urgent intervention to prevent progression to life-threatening myasthenic crisis. This multicenter study evaluate the...
Multicenter Study
Journal of neurology. 2026 Feb 16;273(2):146. DOI:10.1007/s00415-026-13695-3 2026
Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment [0.03%]
小脑中间部损伤导致的CANVAS综合征患者的异常眼动表现
Renana Storm,Bente Lübbers,Max Borsche et al.
Renana Storm et al.
Background: Biallelic intronic repeat expansions in the RFC1 gene are associated with the cerebellar ataxia, neuropathy, and vestibular areflexia (bilateral vestibulopathy) syndrome (CANVAS). Oculomotor abnormalities may ...
Benedikt Schoser,Cristina Domínguez-González,Pascal Laforet et al.
Benedikt Schoser et al.
Introduction: Pompe disease is a rare, progressive genetic disorder caused by pathogenic variants in the GAA gene. Emerging gene therapies offer the potential for long-term disease management, although logistical and clin...
First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease [0.03%]
首个关于向新一代酶替代疗法转换以治疗晚发型庞贝病的多中心真实世界分析
Daniel H Mendelsohn,Angela Rosenbohm,Anne-Katrin Güttsches et al.
Daniel H Mendelsohn et al.
Background: Next-generation enzyme replacement therapies (ERTs) for late-onset Pompe disease (LOPD), including avalglucosidase alfa and cipaglucosidase alfa with miglustat, have been developed to improve muscle targeting ...
Observational Study
Journal of neurology. 2026 Feb 14;273(2):144. DOI:10.1007/s00415-026-13689-1 2026
Doreen Huppert,Johannes Gerb,Filipp Filippopulos
Doreen Huppert
Tinnitus, i.e., the subjective perception of sound without an external source, is a common symptom of various medical conditions. In multiple ancient medical texts, descriptions of tinnitus-like symptoms can be found, but a comprehensive ov...
Clinical risk factors for post-traumatic seizures: a systematic review and meta-analysis [0.03%]
创伤性癫痫的临床危险因素：系统评价和 Meta 分析
Edoardo Viaroli,Conor Gillespie,Harry Mee et al.
Edoardo Viaroli et al.
Background: Post-traumatic seizure (PTS) is a significant complication of traumatic brain injury (TBI), associated with unfavourable outcomes. However, reported risk factors for PTS are inconsistent, and considerable vari...
Association between leukocyte telomere length and neurodegenerative diseases: a prospective cohort in the UK Biobank [0.03%]
英国生物样本库中白细胞端粒长度与神经退行性疾病的相关性：一项前瞻性队列研究
Xiangting Chen,Yueqing Huang,Chunhua Zhao et al.
Xiangting Chen et al.
Background: This study aims to investigate the association between leukocyte telomere length (LTL) and the risk of incident NDDs using a large-scale cohort from the UK Biobank. ...
Unraveling the core: hub genes bridging familial and sporadic Parkinson's disease [0.03%]
解密帕金森病核心致病基因：家族性和散发性帕金森病的交汇点基因
Simran Singh,Gulshan Chauhan,Baisakhi Moharana et al.
Simran Singh et al.
Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the selective loss of dopaminergic (DA) neurons in the substantia nigra. Although familial and sporadic forms of PD have distinct etiological origins, the...
Treating SOD1-ALS with tofersen results in nonprogressive chronic ALS-a case series from Iceland [0.03%]
托法森治疗SOD1-ALS的效果：冰岛的病例系列研究显示病情未进展慢性ALS病症
Bjorn Logi Thorarinsson,Olafur Arni Sveinsson,Agust Hilmarsson et al.
Bjorn Logi Thorarinsson et al.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. We describe four patients with hereditary ALS caused by the p.Gly94Ser SOD1 mutation who were treated monthly with the intrathecal antisense oligonucleotide to...
Disrupted and reorganized connectivity of brain networks in multiple sclerosis: a systematic review and meta-analysis of resting-state functional MRI [0.03%]
多发性硬化症中脑网络连接的中断和重组：静息态功能磁共振成像的系统回顾与meta分析
Bingyi Qu,Siyi Li,Hongxi Chen et al.
Bingyi Qu et al.
Background: Abnormalities in large-scale brain functional networks are implicated in multiple sclerosis (MS) and linked to clinical impairments, but reported findings remain heterogeneous due to methodological and sample ...