Genotype-phenotype relations for GBA as a Parkinson’s disease risk factor gene: MDSGene Systematic Review
Objective: To provide a comprehensive and systematic review of genotype-phenotype associations of GBA variants for Parkinson’s disease (PD). Background: Biallelic pathogenic variants in the glucocerebrosidase gene (GBA) cause Gaucher disease (GD).…Impaired glucocerebrosidase transport to lysosomes in cultured macrophages derived from blood monocytic cells of patients with Parkinson’s disease associated with mutations in the GBA gene
Objective: To study the glucocerebrosidase (GCase) activity and translocation to lysosomes in cultured macrophages derived from patient blood monocytic cells (PBMC) of Parkinson's disease patients…Substantia nigra pars compacta integrity is associated with DRT-related motor symptom improvement in Parkinson’s disease
Objective: To study the correlation between substantia nigra white matter integrity and response of motor symptoms to dopamine replacement therapy (DRT) in Parkinson’s disease (PD).…Compensatory functional mechanisms of response inhibition in Parkinson’s Disease with impulse control disorders
Objective: To investigate response inhibition in Parkinson’s disease (PD) patients with impulse control disorders. Specifically, the neural underpinnings of two aspects of inhibition: proactive inhibition…Clinical correlates of Parkinson’s disease metabolic pattern: not only a diagnostic tool
Objective: To define and cross-validate the glucose metabolism abnormalities related to Parkinson's Disease (PD), and to analyze pattern relationship with clinical phenotype Background: In PD,…Progression of nigrostriatal dysfunction in Parkinson’s disease: a longitudinal multimodal PET study
Objective: To investigate the longitudinal course of nigrostriatal metabolic and dopaminergic dysfunction and its impact on symptom severity in Parkinson's disease (PD) patients using a…Comorbid Moyamoya Disease and Parkinson’s disease: A case series
Objective: We report the first case series of comorbid Moyamoya disease (MMD) and Parkinson’s disease (PD). Background: MMD is characterized by angiographic findings of bilateral…Ballistic single-joint arm movements in levodopa-induced dyskinesias in Parkinson´s disease.
Objective: To design a pilot study to analyze ballistic movements in Parkinson's disease patients with levodopa-induced dyskinesia. Background: Ballistic movements are characterized by an electromyographic…Autonomic dysfunction in patients with Parkinson’s disease
Objective: Discuss the prevalence, clinical manifestations, and impact of autonomic dysfunction in Parkinson's disease (PD). Background: Autonomic dysfunction is an important non-motor feature of PD…Behavioral effects of stimulated dopamine release and D2-like receptor displacement in Parkinson’s patients with impulse control disorder
Objective: To evaluate behavioral effects of stimulated dopamine (DA) release in Parkinson’s disease (PD) by assessing D2/3 receptor (DA-R) displacement on PET imaging Background: Previous…
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