Substantia nigra degeneration in spinocerebellar ataxia 2 and 7 using neuromelanin-sensitive imaging [0.03%]
利用神经黑素敏感性成像研究脊髓小脑共济失调2型和7型多巴胺能神经元丢失差异
Lydia Chougar,Giulia Coarelli,François-Xavier Lejeune et al.
Lydia Chougar et al.
Objective: Spinocerebellar ataxias (SCA) are neurodegenerative diseases with widespread lesions across the central nervous system. Ataxia and spasticity are usually predominant, but patients may also present with parkinso...
Marco Spinazzi,Marco Savarese,Franck Letournel et al.
Marco Spinazzi et al.
Background: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk re...
Carotid endarterectomy and the risk of perioperative stroke: The importance of chronic ischaemic lesions and small vessel disease [0.03%]
颈动脉内膜剥脱术围手术期脑卒中的危险因素：慢性缺血性病灶及小血管病变的影响
Henrietta Törmänen,Suvi Koskinen,Krista Nuotio et al.
Henrietta Törmänen et al.
Background and purpose: Perioperative stroke is a well-recognized complication of carotid endarterectomy (CEA), but well-performing prediction models do not exist for it. Our aim was to identify novel predictors for perio...
Observational Study
European journal of neurology. 2025 Jan;32(1):e16551. DOI:10.1111/ene.16551 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps [0.03%]
RYR1基因的创始人变异与高血清肌酸激酶、肌痛和肌肉痉挛相关
Alba Segarra-Casas,Pablo Iruzubieta,Solange Kapetanovic et al.
Alba Segarra-Casas et al.
Background and purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val varian...
Education moderates the association between motor involvement and executive status in ALS [0.03%]
教育可缓解肌萎缩侧索硬化症运动功能障碍与执行功能状态之间的关联
Edoardo Nicolò Aiello,Barbara Poletti,Monica Consonni et al.
Edoardo Nicolò Aiello et al.
Background: This study aimed to determine whether educational attainment-a common proxy of cognitive reserve (CR)-influences the association between motor and cognitive/behavioural outcomes in a large cohort of ALS patien...
The association between acute transverse myelitis and COVID-19 vaccination in Korea: Self-controlled case series study [0.03%]
韩国急性横贯性脊髓炎与新冠疫苗接种的关联：自我作为对照的病例系列研究
Eunsun Lim,Yoo Hwan Kim,Na-Young Jeong et al.
Eunsun Lim et al.
Background: Acute transverse myelitis (ATM) has been reported as a potential association between COVID-19 vaccination. In this study, we aimed to investigate the association between the COVID-19 vaccination and ATM. ...
Keep it simple: Intimal calcification for predicting atherosclerotic large vessel occlusion [0.03%]
保持简约：用于预测动脉粥样硬化大血管闭塞的内膜钙化标志
Marialuisa Zedde,Rosario Pascarella
Marialuisa Zedde
Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3 [0.03%]
载脂蛋白Eε4基因型与第三型脊小脑萎缩语言功能及视空间记忆功能更好的表现有关
Xuanyu Chen,Kunxin Lin,Zhixian Ye et al.
Xuanyu Chen et al.
Background: The regulatory role of the apolipoprotein E (APOE) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 all...
Global, regional, and national burdens of intracerebral hemorrhage and its risk factors from 1990 to 2021 [0.03%]
1990至2021年全球、区域和国家脑出血及其危险因素的疾病负担
Dengpan Song,Dingkang Xu,Mengyuan Li et al.
Dengpan Song et al.
Background and purpose: The aim of this study was to assess the intracerebral hemorrhage (ICH) burden in 204 countries and territories worldwide from 1990 to 2021, disaggregated by sex, age, and sociodemographic index (SD...
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants [0.03%]
从双侧瘫痪性脊髓病到婴儿期神经退行性疾病：SPAST 双等位基因变异相关表型谱系的扩展
Manon Degoutin,Chloé Angelini,Claire Bar et al.
Manon Degoutin et al.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphinc...