Thiago Yoshinaga Tonholo Silva,Vinícius Lopes Braga,Victor Rebelo Procaci et al.
Thiago Yoshinaga Tonholo Silva et al.
ANO10-related ataxia is characterized by cerebellar and pyramidal signs, with prominent oculomotor abnormalities, including saccadic abnormalities, strabismus, and ptosis. While nystagmus is frequently observed, the specific subtype of hori...
miR-512-3p as a Potential Biomarker of Poor Outcome in Pediatric Medulloblastoma [0.03%]
miR-512-3p作为儿童髓母细胞瘤预后不良的潜在生物标志物
Carolina Alves Pereira Corrêa,Pablo Shimaoka Chagas,Mirella Baroni et al.
Carolina Alves Pereira Corrêa et al.
The tumorigenesis of medulloblastoma (MB), the most frequent malignant brain tumor in children, is not completely known. MicroRNA (miRNA) expression profiles have been associated with human cancers; however, the role played by miRNAs in ped...
Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias [0.03%]
智能手机应用程序在痉挛小脑共济失调中进行远程监测的新发智能手机应用程序的横断面验证研究
Ilse H J Willemse,Sabato Mellone,Carlo Tacconi et al.
Ilse H J Willemse et al.
Effective trial-planning in Spastic ataxias (SPAX) is impeded by the absence of validated outcome measures for detecting longitudinal changes. Digital outcome measures show promise, demonstrating sensitivity to disease severity changes in a...
Reduced Cerebellar Volumes Associate with P300 Amplitude Attenuation in Children with Clinical High Risk for Psychosis and Early Onset Psychosis [0.03%]
小脑体积减少与临床高危精神病和早发精神病儿童P300振幅衰减有关
Hanne van der Heijden,Hesham M Hamoda,Aliza Ray et al.
Hanne van der Heijden et al.
Patients with psychotic illnesses, including early onset psychosis (EOP), often experience cognitive impairment. The cerebellum is critically involved in neurocognitive processes, yet possible regional alterations in the cerebellum and thei...
A Review on Radiologic Hot Cross Bun Sign and Related Clinical Conditions [0.03%]
放射学“热十字面包征”及相关临床状况综述
Mehri Salari,Mohammad Golzarian,Kamran Rezaei et al.
Mehri Salari et al.
The hot cross bun (HCB) sign is a cruciform-shaped hyperintensity on axial T2 weighted-image magnetic resonance imaging (MRI), mostly reported with multiple system atrophy (MSA). However, several other diagnoses were reported with this radi...
The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing [0.03%]
CANVAS/RFC1相关共济失调周围前庭缺陷及其随时间变化的系统评价和定量头脉冲测试的荟萃分析
Maja Szymanska Heydel,Felix Heindl,Annette Hartmann et al.
Maja Szymanska Heydel et al.
Cerebellar ataxia, neuropathy, vestibular-areflexia syndrome (CANVAS) has been linked to biallelic intronic repeat-expansions in RFC1. Video-head-impulse testing (vHIT) offers a quantitative assessment of the angular vestibulo-ocular reflex...
Chen-Hui Cao,Wen-Li Li,Yao Zhang et al.
Chen-Hui Cao et al.
Validation of the Italian Version of the Scale for the Assessment and Rating of Ataxia (SARA) in Multiple Sclerosis: A Cross-Sectional Study [0.03%]
意大利版本的共济失调评定量表(SARA)在多发性硬化症中的验证：一项横断面研究
Giovanni Sellitto,Serena D&#x;Aniello,Emanuele Amadio et al.
Giovanni Sellitto et al.
Multiple sclerosis (MS) is a chronic neurodegenerative disorder often associated with cerebellar ataxia. Accurate assessment of ataxia is crucial for monitoring disease progression and guiding rehabilitation. The Scale for the Assessment an...
Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review [0.03%]
孤立的小脑蚓叶发育不全的神经发育结果：一项单中心回顾性队列研究与文献复习
Gianni Cutillo,Marta Zambon,Stefano Faiola et al.
Gianni Cutillo et al.
Vermian hypoplasia (VH) is characterized by reduced cerebellar vermis volume without significant hemispheric involvement. To date, data on long-term neurodevelopmental outcomes in isolated VH cases are limited, complicating prenatal counsel...
Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition [0.03%]
脊髓小脑共济失调类型14中蛋白激酶Cγ的新型C1A结构域变异会降低其自动抑制作用
Gayatri Raj Ghosh,Tiffany H Kao,Connolly G Steigerwald et al.
Gayatri Raj Ghosh et al.
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by adult-onset cerebellar ataxia, and occasionally pyramidal signs, cognitive changes, sensory changes, myoclonus, and tremor. SCA14 re...