Thiago J R Rezende,Gabriel S Schmitt,Fabricio D de Lima et al.
Thiago J R Rezende et al.
Background: RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinica...
Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels [0.03%]
独立于糖基 ceramide 水平的帕金森病血浆 glycosphingolipid 变化
Danielle Te Vruchte,Andrea Sturchio,David A Priestman et al.
Danielle Te Vruchte et al.
Background: Alteration in glycosphingolipids (GSLs) in Parkinson's disease (PD) still needs to be determined. Objectives: We evaluated ...
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia [0.03%]
MED27、SLC6A7 和 MPPE1 的变异在一种以重度肌张极为特征的复杂神经发育障碍中出现
Kimberley M Reid,Robert Spaull,Smrithi Salian et al.
Kimberley M Reid et al.
Background: Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental dis...
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions [0.03%]
帕金森病遗传学研究中代表性不足的群体：当前格局与未来方向
Artur Francisco Schumacher-Schuh,Andrei Bieger,Olaitan Okunoye et al.
Artur Francisco Schumacher-Schuh et al.
Background: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disp...
Device-Assisted and Neuromodulatory Therapies for Parkinson's Disease: A Network Meta-Analysis [0.03%]
帕金森病的设备辅助及神经调控疗法网络 meta 分析
Roopa Rajan,Kanwaljeet Garg,Achal K Srivastava et al.
Roopa Rajan et al.
Background: Device-assisted and neuromodulatory therapies are the standard of care for Parkinson's disease (PD) with disabling motor complications. We aimed to compare and rank the currently available advanced therapies f...
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population [0.03%]
欧洲人群中帕金森病NOTCH2NLC GGC重复序列扩增的特征分析
Kimberley J Billingsley,Pilar Alvarez Jerez,Francis P Grenn et al.
Kimberley J Billingsley et al.
Endoplasmic Reticulum Proteostasis/Protein Trafficking Enhancement: A Novel Synergistic Approach to Tackling α-Synuclein [0.03%]
新型协同方法应对α-突触核蛋白引起的疾病：增强内质网蛋白质稳态/蛋白转运
Diana A Olszewska,Anthony E Lang
Diana A Olszewska
18 F-Florzolotau Tau Positron Emission Tomography Imaging in Patients with Multiple System Atrophy-Parkinsonian Subtype [0.03%]
18F-氟[18F] florzolepi tau正电子发射断层显像在多系统萎缩-帕金森亚型患者中的应用
Feng-Tao Liu,Xin-Yi Li,Jia-Ying Lu et al.
Feng-Tao Liu et al.
Background: Anecdotal evidence suggests that patients diagnosed with the parkinsonian subtype of multiple system atrophy (MSA-P) may show uptake of the second-generation tau positron emission tomography (PET) tracer 18 F-...
Transcutaneous Auricular Vagus Stimulation Improves Gait and Reaction Time in Parkinson's Disease [0.03%]
经皮耳迷走神经刺激可改善帕金森病患者的步态和反应时间
Massimo Marano,Gaia Anzini,Gabriella Musumeci et al.
Massimo Marano et al.
Jiaying Lu,Jingjie Ge,Keliang Chen et al.
Jiaying Lu et al.
Background: Whether dementia with Lewy bodies (DLB) and Parkinson's disease (PD) dementia (PDD) represent the same disease, distinct entities, or conditions within the same spectrum remains controversial. ...