The role of mitochondria in modifying penetrance of Parkin gene variants
Objective: To understand whether mitochondrial DNA (mtDNA) mutation load can modify the penetrance of variants in the Parkinson’s disease (PD) causing gene PRKN (Parkin), in…PRKN Positive Parkinson’s Disease Masked as Dopa-Responsive Dystonia
Objective: To report a Parkinson’s disease (PD) patient with PRKN mutation initially diagnosed with dopa-responsive dystonia (DRD), unmasked after developing signs of parkinsonian disease progression.…Bumetanide to treat Parkinson’s disease patients suffering from freezing of gait resistant to both dopamine replacement treatment and subthalamic deep brain stimulation: an open-label pilot study (BumFOG)
Objective: to investigate the effects of bumetanide in Parkinson's disease (PD) patients suffering from freezing of gait (FOG) resistant to dopamine replacement therapy and subthalamic…Neuroprotective effect of Lemon oil on 6-OHDA-Induced Apoptosis in PC12 Cells through the ROS-NO Pathway
Objective: The objective of current investigation was to decipher e the neuroprotective effect of lemon oil (LO) on PC 12 cell lines by 6-hydroxydopamine (6-OHDA)…Genetics and phenotypes of recessive parkinsonism in French and North African populations
Objective: To evaluate the mutation frequency in recessive genes and the associated phenotype in a large series of French and North African cases with Parkinson’s…CXCL12 is involved in α-synuclein-triggered neuroinflammation of Parkinson’s disease
Objective: Activated microglia and increased cytokine levels could precede neurodegeneration in neuro-inflammation in A53T mice, and CXCL12 was found increased in plasma CNS-derived exosomes, which…Identifying healthy Parkin mutation carriers based on sensor-based posturography and gait analysis
Objective: To discriminate healthy Parkin mutation carriers from healthy non-mutation carriers using sensor-based motion analysis. Background: Identifying endophenotypes for PD is crucial for testing potential…Deep mitochondrial sequencing in Parkinson’s disease reveals possible genetic modifiers of reduced penetrance in Parkin/PINK1 mutation carriers
Objective: To discover potential penetrance biomarkers in mitochondrial DNA (mtDNA) for Parkin and PINK1 mutation carriers. Background: Biallelic mutations in Parkin and PINK1 are fully…Genetic study of patients with Parkinson’s disease subjected to second line therapies
Objective: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be…Motor-based assessment of prodromal Parkinson’s disease combining wearable sensors and machine learning
Objective: To provide the neurologist with a decision support system based on inertial sensors and learning algorithms for an objective early diagnosis of Parkinson’s disease…
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