Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis [0.03%]
红血球中磷脂酰乙醇胺是VPS13A疾病/棘红细胞伴运动障碍病的主要异常脂质类群
Kevin Peikert,Adrian Spranger,Gabriel Miltenberger-Miltenyi et al.
Kevin Peikert et al.
Background: VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediat...
Long-Range Temporal Correlations in Electroencephalography for Parkinson's Disease Progression [0.03%]
帕金森病进展的脑电图长期时间相关性研究
Chih-Hong Lee,Chi-Hung Juan,Hsiang-Han Chen et al.
Chih-Hong Lee et al.
Background: Patients with Parkinson's disease (PD) present progressive deterioration in both motor and non-motor manifestations. However, the absence of clinical biomarkers for disease progression hinders clinicians from ...
A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank [0.03%]
在10万基因组计划和英国生物银行中对THAP11 CAG重复大小和结构的全人群探索
Chris Clarkson,Zhongbo Chen,Clarissa Rocca et al.
Chris Clarkson et al.
Background: A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5'...
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder [0.03%]
Spinocerebellar萎缩症类型4的致病机理的共同祖先创始人ZFHX3 GGC重复序列扩张现象研究
Zhongbo Chen,Pilar Alvarez Jerez,Claire Anderson et al.
Zhongbo Chen et al.
Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to dec...
Clinical Outcome Assessments for Spasticity: Review, Critique, and Recommendations [0.03%]
痉挛的临床评价方法：综述、批评及建议
Ota Gal,Marjolaine Baude,Thierry Deltombe et al.
Ota Gal et al.
Background: Spasticity is a common feature in patients with disruptions in corticospinal pathways. However, the term is used ambiguously. Here, spasticity is defined as enhanced velocity-dependent stretch reflexes and pla...
Sustained Clinical Benefit of Adaptive Deep Brain Stimulation in Parkinson's Disease Using Gamma Oscillations: A Case Report [0.03%]
基于伽马振荡的帕金森病自适应深部脑刺激术长期临床疗效观察：一例报告
Stephanie Cernera,Carina R Oehrn,Lauren H Hammer et al.
Stephanie Cernera et al.
Background: Adaptive deep brain stimulation (aDBS) dynamically adjusts stimulation parameters according to patient needs. We recently showed that chronic aDBS utilizing invasive neural signals for feedback control is supe...
Validation of Parkinson's Disease Ascertainment in the Veterans Administration Electronic Medical Record [0.03%]
退伍军人管理局电子健康记录中帕金森病认定的验证
Samuel M Goldman,Frances M Weaver,Lishan Cao et al.
Samuel M Goldman et al.
Background: Electronic medical record (EMR)-based studies hold great potential for epidemiologic investigations of Parkinson's disease (PD) causal factors and phenomenology, but diagnostic misclassification may obscure or...
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification [0.03%]
与脑钙化相关的细胞连接蛋白基因突变
Dehao Yang,Zihan Jiang,Honghao Huang et al.
Dehao Yang et al.
Intracerebral calcium deposition, classified into primary familial brain calcification (PFBC) and secondary brain calcification, occurs within the brain parenchyma and vasculature. PFBC manifests with progressive motor decline, dysarthria, ...
Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4) [0.03%]
解开异构体的复杂性：M1和M87型Spastin在遗传性痉挛截瘫4型中的作用
Skandha Ramakrishnan,Neha Mohan,Zhangji Dong et al.
Skandha Ramakrishnan et al.
Spastic Paraplegia 4 (SPG4) is a debilitating neurodegenerative disorder characterized by progressive muscle weakness and spasticity in the lower limbs, often leading to gait impairment. Central to SPG4 pathology is the die-back degeneratio...