cerebellar cognitive affective syndrome is frequent in rfc1-related disorder
Objective: To describe the prevalence and clinical profile of cerebellar cognitive affective syndrome (CCAS) in patients with RFC1-related disorder. Background: Since the recent description of…Description of a series of GAA-FGF14 ataxia / SCA27b patients
Objective: To describe the main features of a series of 12 patients with GAA-FGF14 ataxia.To describe the main features of a series of 12 patients…AI-Guided Microelectrode Recording for GPi DBS in Parkinson’s disease
Objective: To evaluate the feasibility of using a machine learning algorithm to interpret intraoperative microelectrode recording (MER) during deep brain stimulation (DBS) lead placement surgery.…Hyperkinetic dystonia in dyskinetic cerebral palsy responds to combined DBS stimulation in thalamus and pallidum.
Objective: To describe the response of hyperkinetic dystonia in four pediatric patients with dyskinetic CP to combined DBS stimulation in thalamus and pallidum. Background: Dystonia…Clinal comprehensive Next-gen gene panel for Parkinson’s Disease
Objective: Parkinson's disease (PD) is a neurodegenerative disorder that affects millions of people. There is growing evidence on both gene mutations associated with PD and…Topical Botulinum-Toxin-like Alternatives: A Systematic Literature Review
Objective: To perform a systematic review exploring the relevant literature on BoNT and BoNT-like substances in topical form and clinical trials focusing on facial muscle…Falls in Mild Cognitive Impairment with Lewy bodies (MCI-LB).
Objective: to identify clinical, physical activity and mobility measures that differentiate patients with mild cognitive impairment with Lewy bodies (MCI-LB) fallers and non-fallers from cognitively…Inhibition of LRRK2 kinase activity promotes glucocerebrosidase transport to the lysosomes in primary monocyte-derived macrophages from patients with GBA-associated Parkinson’s disease
Objective: The aim was to evaluate the effectiveness of leucine-rich repeat kinase 2 (LRRK2) kinase activity inhibition in restoring transport of the enzyme glucocerebrosidase (GCase),…Longitudinal recordings of subthalamic local field potentials show intra-subject consistency of beta-based physiomarkers in Parkinson’s Disease
Objective: To investigate long-term consistency of spectral data features extracted from local field potential (LFP) recordings of the subthalamic nucleus (STN) in Parkinson’s disease (PD)…Wavelet-based bracketing, time-frequency beta-burst detection: new insights in Parkinson’s disease
Objective: To identify bursts in wide frequency bands and show the relation between burst features and clinical scores. Background: Beta burst activity is a pathophysiological…
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