Clinical exome sequencing – diagnostic yield in a sample of German patients with Parkinson’s disease
Objective: To assess the diagnostic yield of clinical exome sequencing (CES) in individuals with Parkinson's disease (PD) seen in a specialized movement disorder clinic. Background:…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
Objective: We present a novel homozygous PLA2G6 mutation and response to Deep Brain Stimulation (DBS). Background: Neurodegeneration with brain iron accumulation (NBIA) type 2/PLA2G6 is…Staging and clinical correlates of cortical thinning in Parkinson’s disease
Objective: By using a novel disease staging model to investigate the progression and clinical associations of cortical thinning in Parkinson's disease (PD) patients. Background: The…Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease
Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…Opioid K receptor variant delays the onset of dyskinesias in Parkinson’s disease
Objective: To investigate the genetic factors modulating the timing of the onset of levodopa-induced dyskinesias (LIDs) in Parkinson's disease (PD). Background: Pathophysiological mechanisms underlying LIDs…Multidisciplinary group program integrating voice and dance movement therapy for Parkinson’s disease patients: Preliminary experience
Objective: To examine the effects of “Voice in Motion“ group therapy on movement, speech and QOL of PD patients. Background: Physical exercise and speech therapy…Modulating neuronal activity in dopaminergic neurons to promote their survival
Objective: To manipulate the activity of dopaminergic (DA) neurons in culture using pharmacological and molecular tools to promote their survival. Background: Parkinson's disease is a…Alpha-synuclein – super-resolution microscopy reveals potential new role of alpha-synuclein at the pre-synapse
Objective: Alpha-synuclein is a major key player in Parkinson's disease, however its physiological function still remains elusive. Using super-resolution microscopy this study aims to analyse…The effect of STN-DBS on movement initiation control is modulated by the noradrenergic system: Evidence of an interaction from a combined pharmacological/DBS/EEG study
Objective: Assessing the role of the noradrenergic system underlying the effect of subthalamic nucleus stimulation (STN-DBS) on akinesia. Background: Slowness in movement initiation, associated with…
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