[Core data set for real world data in multiple sclerosis: customization for latin america from a global task force recommendation] [0.03%]
[多发性硬化真实世界数据核心集：拉丁美洲全球工作组推荐的定制版]
J I Rojas,F Gracia,T Parciak et al.
J I Rojas et al.
Introduction: The primary objective of the core data set is to reduce heterogeneity and promote harmonization among data sources in EM, thereby reducing the time needed to execute real life data collection efforts. Recent...
[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence] [0.03%]
[儿童肉碱缺乏性肌病的临床表型与基因型及发病风险分析]
N Del Arco-Guzmán,S Lobato-López,R Calvo-Medina et al.
N Del Arco-Guzmán et al.
Introduction: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting t...
Observational Study
Revista de neurologia. 2024 Apr 1;78(7):179-183. DOI:10.33588/rn.7807.2023348 2024
[Natural history of mucopolysaccharidosis type III in a series of Colombian patients] [0.03%]
哥伦比亚一组粘多糖病III型患者的自然病史研究
L Cabarcas,J L Ramón,E Espinosa et al.
L Cabarcas et al.
Introduction: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Di...
[Comorbidities in multiple sclerosis and their influence on the choice of treatment] [0.03%]
多发性硬化症的合并症及其对治疗选择的影响
A Barboza,V Sinay,R Alonso et al.
A Barboza et al.
Clinical trials of disease-modifying therapies (DMTs) for people with multiple sclerosis (pMS) are conducted in selected populations, excluding patients with comorbidities or concomitant medications. However, a large percentage of pMS have ...
[Neuroanatomical mapping of inhibitory attention and working memory with functional magnetic resonance imaging in healthy children] [0.03%]
健康儿童抑制性注意和工作记忆的神经解剖学功能磁共振成像映射
R Rosales-Fernández,M Paredes,A Zuñiga et al.
R Rosales-Fernández et al.
Introduction: The objective is to produce an average brain activation mapping template in healthy children using functional magnetic resonance imaging (fMRI), with specific paradigms for activating inhibitory attention an...
Physical activity in Parkinson's disease: examining prescription sources, patterns, and the influence of quality of life and disease severity [0.03%]
帕金森病患者的体育运动：考察运动的来源、模式以及与生活质量及疾病严重程度的影响关系
D Suárez-Iglesias,J C Diz,I Bidaurrazaga-Letona et al.
D Suárez-Iglesias et al.
Introduction: Limited research has explored the influence of quality of life (QoL) and disease severity on physical activity (PA) in Parkinson's disease (PD) patients, and the sources of PA prescription and advice for thi...
A Gauto,E Bellantonio,P Pedernera-Bradichansky et al.
A Gauto et al.
Introduction: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomeno...
Neuromyelitis optica spectrum disorders relapses and seasonal influence in an equatorial country cohort [0.03%]
视神经脊髓炎谱系障碍的复发及赤道国家队列研究中的季节影响
C Restrepo-Aristizábal,L M Giraldo,C A Franco et al.
C Restrepo-Aristizábal et al.
Introduction: Information about seasonal distribution of Neuromyelitis optica spectrum disorders (NMOSD) attacks, particularly in tropical countries, has rarely been described and the reported data are diverse. ...
[Seizures in the emergency service: the clinical and therapeutic characteristics of 122 patients] [0.03%]
急诊科惊厥：122例临床与治疗特征分析
A Fernández-Cabrera,P Santamaría-Montero,L Álvarez-Fernández et al.
A Fernández-Cabrera et al.
Introduction: Epileptic seizures are a common cause of admission in emergency services at hospitals. Performing the correct diagnosis can be difficult, and deciding when and which anti-seizure medication (ASM) to prescrib...
Observational Study
Revista de neurologia. 2024 Mar 1;78(5):121-125. DOI:10.33588/rn.7805.2023324 2024
S Laxe,D Borda
S Laxe