Thomas Welton,Gabriel Chew,Aaron Shengting Mai et al.
Thomas Welton et al.
Background: Transcriptomic changes in the essential tremor (ET)-associated cerebello-thalamo-cortical "tremor network" and their association to brain structure have not been investigated. ...
The Effect of taVNS at 25 Hz and 100 Hz on Parkinson's Disease Gait-A Randomized Motion Sensor Study [0.03%]
不同频率迷走神经刺激对帕金森病步态影响的随机运动传感器研究
Vesna van Midden,Urban Simončič,Zvezdan Pirtošek et al.
Vesna van Midden et al.
Background: Transcutaneous electrostimulation of the auricular branch of the vagal nerve (taVNS) has the propensity to reach diffuse neuromodulatory networks, which are dysfunctional in Parkinson's disease (PD). Previous ...
THAP11 CAG Repeat Expansion Is Rare or Absent in the Taiwanese Cohort with Cerebellar Ataxia [0.03%]
THAP11 CAG重复扩增在台湾小脑共济失调患者中的检出率低或缺失
Cheng-Tsung Hsiao,Nai-Yi Liao,Yi-Chu Liao et al.
Cheng-Tsung Hsiao et al.
Comment on "Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals" [0.03%]
关于“定义先天性镜像运动的遗传特征（80名患者的研究）”的观点
Oriane Trouillard,Aurélie Méneret,Margaux Dunoyer et al.
Oriane Trouillard et al.
SNCA-Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy [0.03%]
与父系单亲二体的第4号染色体完全非整倍性有关的路易 bodies病
Jianyuan Zhang,Yiming Liu,Cuiping Zhao
Jianyuan Zhang
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study [0.03%]
三庚二酸盐治疗谷氨酰胺缺乏症阵发性运动障碍的 III 期随机对照研究：与安慰剂对比未显示临床获益
Valentina De Giorgis,Kailash P Bhatia,Odile Boespflug-Tanguy et al.
Valentina De Giorgis et al.
Background: Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets. Obje...
Persistent GDNF Expression 45 Months after Putaminal Infusion of AAV2-GDNF in a Patient with Parkinson's Disease [0.03%]
帕金森病患者接受GDNF后，黑质中GDNF持续表达达45个月
John D Heiss,Abhik Ray-Chaudhury,David E Kleiner et al.
John D Heiss et al.
Objective: Gene therapy by convection-enhanced delivery of type 2 adeno-associated virus-glial cell derived neurotrophic factor (AAV2-GDNF) to the bilateral putamina seeks to increase GDNF gene expression and treat Parkin...
Detection of α-Synuclein in Oral Mucosa by Seed Amplification Assay in Synucleinopathies and Isolated REM Sleep Behavior Disorder [0.03%]
种子扩增法在路易体痴呆和纯自主神经失调受试者口腔黏膜中检测α-突触核蛋白
Yuanchu Zheng,Zhenwei Yu,Huihui Cai et al.
Yuanchu Zheng et al.
Objective: Evidence of abnormal α-synuclein (α-Syn) deposition in the brain is required for definitive diagnosis of synucleinopathies, which remains challenging. The seed amplification assay (SAA) is an innovative techn...
Continuous Levodopa Delivery with an Intraoral Micropump System: An Open-Label Pharmacokinetics and Clinical Study [0.03%]
口腔微泵系统连续输送左旋多巴的药代动力学及临床研究
C Warren Olanow,Deborah McIntyre,Michele Matarazzo et al.
C Warren Olanow et al.
Background: Double-blind studies have demonstrated that motor complications in Parkinson's disease (PD) can be reduced with continuous delivery of levodopa. The DopaFuse system is a novel, intraoral micropump that attache...
Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients [0.03%]
骨化三醇治疗安全有效且可增加弗里德希共济失调患者的frataxin水平
Berta Alemany-Perna,Jordi Tamarit,Elisa Cabiscol et al.
Berta Alemany-Perna et al.
Background: Calcitriol, the active form of vitamin D (also known as 1,25-dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA). ...