Direct Current Stimulation of Prefrontal Cortex Is Not Effective in Progressive Supranuclear Palsy: A Randomized Trial [0.03%]
前额皮质直流电刺激对进行性核上性麻痹无效：随机试验
Arianna Cappiello,Filomena Abate,Sarah Adamo et al.
Arianna Cappiello et al.
Background: Progressive supranuclear palsy (PSP) is a rare 4R-tauopathy. Transcranial direct current stimulation (tDCS) may improve specific symptoms. Obj...
Randomized Controlled Trial
Movement disorders : official journal of the Movement Disorder Society. 2024 Jun;39(6):1043-1048. DOI:10.1002/mds.29774 2024
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China [0.03%]
CSF1R相关障碍的表型和基因型谱中国患者的分析
Jingying Wu,Xin Cheng,Duxin Ji et al.
Jingying Wu et al.
Background: Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated. ...
Optimizing Screening for Intrastriatal Interventions in Huntington's Disease Using Predictive Models [0.03%]
利用预测模型优化亨廷顿舞蹈病壳核内治疗的筛查方法
Matthew J Barrett,Ahmed Negida,Nitai Mukhopadhyay et al.
Matthew J Barrett et al.
Background: Intrastriatal delivery of potential therapeutics in Huntington's disease (HD) requires sufficient caudate and putamen volumes. Currently, volumetric magnetic resonance imaging is rarely done in clinical practi...
Cortical Macro- and Microstructural Changes in Parkinson's Disease with Probable Rapid Eye Movement Sleep Behavior Disorder [0.03%]
伴有可疑快速眼动睡眠行为障碍的帕金森病皮质宏观和微观结构的变化
Jèssica Pardo,Victor Montal,Anna Campabadal et al.
Jèssica Pardo et al.
Background: Evidence regarding cortical atrophy patterns in Parkinson's disease (PD) with probable rapid eye movement sleep behavior disorder (RBD) (PD-pRBD) remains scarce. Cortical mean diffusivity (cMD), as a novel ima...
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase [0.03%]
SNCA p.V15A变异的功能研究：进一步联系α-突触核蛋白和葡糖脑苷脂酶
Micol Avenali,Silvia Cerri,Ilaria Palmieri et al.
Micol Avenali et al.
Background: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival. ...
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia [0.03%]
KCNJ10基因的罕见错义突变与阵发性运动诱发性 dyskinesia 相关
Thomas Wirth,Emmanuel Roze,Clarisse Delvallée et al.
Thomas Wirth et al.
Background: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases. ...
Bidirectional Interplay between Deep Brain Stimulation and Cognition in Parkinson's Disease: A Systematic Review [0.03%]
帕金森病的深部脑刺激与认知之间的双向相互作用：系统性回顾
Vibuthi Sisodia,Arjan Malekzadeh,Esmée Verwijk et al.
Vibuthi Sisodia et al.
Background: Deep brain stimulation (DBS) is efficacious for treating motor symptoms in Parkinson's disease (PD). Objectives: The aim is...
Care of Late-Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries [0.03%]
晚期帕金森氏症的护理：五个欧洲国家在该疾病上的资源消耗
Christopher Kruse,Anna Lipinski,Malte Verheyen et al.
Christopher Kruse et al.
Background: Parkinson's disease (PD) is a neurodegenerative disease that leads to progressive disability. Cost studies have mainly explored the early stages of the disease, whereas late-stage patients are underrepresented...
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity? [0.03%]
GNAO1孤立性肌张力障碍病例中的GNAI1致病变异：疾病的严重程度的修饰因子？
Mariana H G Monje,Joanna Sarah Blackburn,Lisa Kinsley et al.
Mariana H G Monje et al.
Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2 [0.03%]
数字步态测量捕获早期脊髓小脑共济失调2型的1年进展
Jens Seemann,Lina Daghsen,Matthieu Cazier et al.
Jens Seemann et al.
Background: With disease-modifying drugs in reach for cerebellar ataxias, fine-grained digital health measures are highly warranted to complement clinical and patient-reported outcome measures in upcoming treatment trials...