To stimulate or not to stimulate? Bilateral subthalamic (STN) Deep Brain Stimulation (DBS) in cases of young-onset parkinsonism with mitochondrial dysfunction induced neurodegeneration.
Objective: To describe two cases of young-onset parkinsonism (YOP; case 1 with mitochondrial membrane protein associated neurodegeneration (MPAN) due to a heterozygous mutation in C19orf12;…A Pilot Feasibility Study of Medium Chain Triglyceride Nutritional Ketosis and Parkinson’s Disease
Objective: To determine if nutritional ketosis supplemented by medium chain triglycerides (MCT) over the course of 2-3 weeks is acceptable and feasible in patients with…Effectiveness of Combined tDCS and tNIRS on Motor Performance in Parkinson’s Disease – A Single Case Study
Objective: The aim of the current study was to evaluate the synergistic effects of combining transcranial near infrared light stimulation (tNIRS) and transcranial direct current stimulation…Functional validation of a mitochondria-specific polygenic risk score in patient-based models for stratification of idiopathic Parkinson’s disease
Objective: The overall objective of this project is to gain essential knowledge on the contribution of genetic variability in nuclear-encoded mitochondrial proteins to idiopathic Parkinson’s…Metabolic Biomarkers of Parkinson’s Disease in Peripheral Tissue
Objective: The goal of this study was to use magnetic resonance spectroscopy (MRS) to test whether muscles of individuals with Parkinson’s disease (PD) possess a…Effect of exercise on brain metabolism and energetics in PD
Objective: To identity the effect of exercise on brain metabolism and energetics in PD using PET/MR imaging. Background: Aerobic exercise slows PD progression as reflected…Multiple N-of-1 trials to investigate hypoxia therapy in Parkinson’s disease: TALISMAN study rationale and protocol
Objective: This is the first study that will assess the potential impact of hypoxia-based therapy in individuals with PD on respiratory parameters and PD symptoms.…The overexpression of a-SYN leads to a differential process of mitophagy in neurons and atrocytes
Objective: To determine the role of the different mitophagy pathways involved in PD, a key question that is still unresolved. We will investigate whether a-synuclein…Mitochondrial and autophagy alteration in a new fatty acid hydroxylase-associated neurodegeneration (FAHN) model
Objective: Establishing a FAHN Drosophila model to identify cellular disease mechanisms. Background: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an early-onset neurodegenerative disease that manifests brain…Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration
Objective: To functionally characterize WDR45-mediated BPAN (Beta-propeller protein-associated neurodegeneration). Background: BPAN patients usually present with global developmental delay and autistic features in early childhood and…
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