Gian D Pal,Fabian J David,Jay L Shils et al.
Gian D Pal et al.
Reply to: "Subthalamic Physiology in Genetic Subtypes of Parkinson's Disease" [0.03%]
对“遗传性帕金森病亚型的下丘脑生理”的回复
Caroline Weill,Akiva Gallant,Halen Baker Erdman et al.
Caroline Weill et al.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B) [0.03%]
GAA-FGF14 基因罕见散发晚发型小脑共济失调(SCA27B)的自然史和表型谱系
Thomas Wirth,Guillemette Clément,Clarisse Delvallée et al.
Thomas Wirth et al.
Background: Heterozygous GAA expansions in the FGF14 gene have been related to autosomal dominant cerebellar ataxia (SCA27B-MIM:620174). Whether they represent a common cause of sporadic late-onset cerebellar ataxia (SLOC...
X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease [0.03%]
拉丁美洲队列中的X染色体关联研究鉴定出帕金森病的新位点
Thiago P Leal,Shilpa C Rao,Jennifer N French-Kwawu et al.
Thiago P Leal et al.
Background: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear. ...
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood [0.03%]
氧气吸入对儿童交替性偏瘫阵发性运动事件的影响
Maria T Papadopoulou,Quentin Welniarz,Agathe Roubertie et al.
Maria T Papadopoulou et al.
Substantia Nigra Pars Reticulata Projections to the Pedunculopontine Nucleus Modulate Dyskinesia [0.03%]
中脑黑质网状部投射至脑桥被盖区调控异动症
Yong Hu,Thong C Ma,Stephanie L Alberico et al.
Yong Hu et al.
Background: Long-term use of levodopa for Parkinson's disease (PD) treatment is often hindered by development of motor complications, including levodopa-induced dyskinesia (LID). The substantia nigra pars reticulata (SNr)...
Extracellular Vesicles for the Diagnosis of Parkinson's Disease: Systematic Review and Meta-Analysis [0.03%]
帕金森病诊断的外泌体系统评价和meta分析
Mary Xylaki,Avika Chopra,Sandrina Weber et al.
Mary Xylaki et al.
Parkinson's disease (PD) biomarkers are needed by both clinicians and researchers (for diagnosis, identifying study populations, and monitoring therapeutic response). Imaging, genetic, and biochemical biomarkers have been widely studied. In...
Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons [0.03%]
PINK1基因突变或Parkin基因突变的帕金森病神经元中线粒体-内质网接触部位的动力学和钙离子稳态异常不同
Dajana Grossmann,Nina Malburg,Hannes Glaß et al.
Dajana Grossmann et al.
Background: It is generally believed that the pathogenesis of PINK1/parkin-related Parkinson's disease (PD) is due to a disturbance in mitochondrial quality control. However, recent studies have found that PINK1 and Parki...
Sodium Oxybate in Alcohol-Responsive Essential Tremor of Voice: An Open-Label Phase II Study [0.03%]
酒精反应性发声震颤的钠奥布氧碱二期开放试验研究
Lena C OFlynn,Steven J Frucht,Kristina Simonyan
Lena C OFlynn
Background: Essential tremor of voice (ETv) is characterized by involuntary oscillations of laryngeal and upper airway muscles, causing rhythmic alterations in pitch and loudness during both passive breathing and active l...
Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [0.03%]
在非汉族帕金森病患者中鉴定出DAGLB突变
Christelle Tesson,Mohamed Sofiane Bouchetara,Mélanie Ferrien et al.
Christelle Tesson et al.