Slc2a13, a risk gene for Parkinson’s disease associated with Snca and Lrrk2
Objective: To exploit the potential function of the risk gene Slc2a13 in PD progression. Background: 越来越多的证据证实了总体遗传位点和候选基因对帕金森病的贡献，以及两个最确定的风险基因，即α-突触核蛋白（Snca）和富含亮氨酸的重复激酶2（Lrrk2）。Slc2a13 编码哺乳动物肌醇转运蛋白，被认为是一种群体依赖性风险基因。越来越多的证据支持这样一种观点，即 Slc2a13 活性的改变强调了 PD 的发展。剖析转运蛋白活性降低如何导致多巴胺能神经元变性和丧失，可能会进一步加深我们对功能的理解。 Method: A total of 338 cases…Distinct patterns of Gene Expression in Skin-biopsy Derived Fibroblasts of Patients with Parkinson’s disease
Objective: In this study, we aimed to investigate global gene expression alterations in cultured skin fibroblasts from individuals with idiopathic Parkinson’s disease (PD) compared to…Comorbidities in genetic Parkinson’s Disease: comparison between LRRK2, GBA1, and non-mutated PD
Objective: To examine the occurrence of medical comorbidities associated with genetic form of Parkinson’s disease (GBA1-PD and LRRK2-PD) compared to a cohort of non-mutated PD…Expanding Diversity of Parkinson’s Disease and Related Disorders Genetic Data: from the Global Parkinson’s Genetics Program
Objective: To expand the research dataset for Parkinson’s Disease (PD) and related disorders by including >50,000 participants globally who have been genotyped or whole genome…LRRK2 Gene Mutation in Parkinson’s Disease
Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation. Background: One of the most common monogenic forms of Parkinson's…Correlation of Neural Sensing with the Volume of Neural Activation within the Desired Patient-Specific Anatomical Target in Deep Brain Stimulation for Parkinson’s Disease
Objective: Investigate the correlation between power in local field potential (LFP) beta band sensed from the subthalamic nucleus (STN) and the volume of neural activation…Exploring the Therapeutic Potential of Microglial Modulation in Parkinson’s Disease: A Study on Structural Synaptic Plasticity
Objective: We aim to explore the role of glial cells in Parkinson's disease and assess whether modulating microgliafunction could offer therapeutic benefits. Specifically, we investigate…A pathology-validated study to investigate the role of Uric Acid in Parkinson’s Disease
Objective: The aim of this study is to compare plasma uric acid levels between pathology-confirmed and clinically misdiagnosed Parkinson’s disease patients at a single-patient level.…Burden of Movements Disorders at Initiative Plus Center Hospital
Objective: describe the socio-demographic, clinical characteristics and evolutionary profiles of patients followed for movement disorders Background: The DR Congo specialists in abnormal movements are rare,…Improving awareness of motor fluctuations in Parkinson’s Disease: an educational patient support program using a waist-worn device.
Objective: To describe the utility of an educational patient support program designed to improve awareness of motor fluctuations (MF) and provide education on motor and…
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