GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…The NINDS Approach to Therapeutic Development for Ultra-Rare Neurological Disorders, Bridging Translational and Clinical Frontiers in Gene-based Therapy
Objective: To establish an innovative process for fast and efficient pathways of delivering gene-based therapy for ultra-rare neurological disorders from the lab to the clinic…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Understanding diffusion in extracellular space in synucleinopathy
Objective: To understand the extracellular space (ECS) diffusion in synucleinopathy. Background: The pathogenic mechanisms underlying synucleinopathies involve the spread and propagation of α-synuclein aggregates throughout…Abnormal Subthalamic Oscillations as Potential Biomarkers for Identifying the Dyskinesia-Inducing Region within the Subthalamic Nucleus in Parkinson’s Disease
Objective: To investigate the characteristics of local field potentials (LFPs) associated with the STN region that elicit stimulation-induced dyskinesia (SID) in PD patients. Background: Approximately 50%…Maintaining Isometric Contraction in Parkinson’s Disease: Effect of PD-Medication on EMG Amplitude
Objective: To quantify muscle activity changes in PD with dopaminergic medication. Background: Parkinson's disease (PD) is characterized by motor symptoms that improve with dopaminergic medication.…Age-associated Changes in Microglial Morphology and its Role in Deciphering Susceptibility to Parkinson’s Disease
Objective: To delineate the age-associated changes in microglial morphotypes in the substantia nigra pars compacta (SNpc) of C57BL/6J and CD-1 mice and alterations in response…The role of pathology validation on the association between smoking and Parkinson’s Disease
Objective: The aim of this study is to investigate the relationship between smoking and Parkinson’s disease in pathology validated Parkinson’s disease patients. Background: Literature has…Levels of ferritinemia in Parkinson’s disease patients who underwent Covid-19
Objective: Comparison of serum IL-6 levels in Parkinson's disease (PD) patients with and without Сovid-19. Background: In the scientific literature, there is information about the…Effects of Osteopathic Manipulative Treatment (OMT) on Lower Extremity Muscle Characteristics in Parkinson’s Disease (PD) Patients
Objective: To define the mechanism of Osteopathic Manipulative Treatment (OMT) in decreasing symptomology and improving gait in Parkinson’s Disease (PD) patients. Background: A key symptom…
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