Frequency and Phenotypic Characterization of Genetic Causes of Sporadic Late-Onset Cerebellar Ataxia: insights from a Cohort of 315 patients
Objective: To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features of genetically determined SLOCA and implement a machine learning model for rationalizing SLOCA…Image-Guided DBS Programming in Dystonia: Experience from a Tertiary Public Brazilian Center
Objective: To illustrate the clinical utility of postoperative DBS lead reconstruction and image-guided programming in genetic dystonia Background: DBS of the globus pallidus internus (GPi)…Exploring “sense of muscle contraction” during gluteus maximus training in Parkinson’s disease: a preliminary EMG perception study
Objective: To explore associations between subjective GMax contraction and surface EMG (sEMG) of GMax, hamstrings (HS), and lumbar extensors (LE) during a standardized hip-extension task.…Treatment of Bilateral Centromedian-Parafascicular (CM-Pf) Deep Brain Stimulation in a Pediatric Case of Rapid-Onset Dystonia-Parkinsonism
Objective: To report the negative outcome of bilateral centromedian-parafascicular (CM-Pf) DBS in a pediatric patient with drug-refractory Rapid-onset Dystonia-Parkinsonism (RDP) harboring an ATP1A3 mutation. Background:…Partial Duplication of NBEA in a Patient Presenting Chorea with Incomplete Penetrance
Objective: To report a novel genotype-phenotype correlation involving a partial duplication of the NBEA gene in a patient presenting with chorea. Background: NBEA has been identified as…Longitudinal gait changes after unilateral and bilateral MRgFUS thalamotomy in Essential Tremor
Objective: To evaluate changes in gait parameters Essential Tremor (ET) patients treated with unilateral or bilateral Magnetic Resonance-guided Focused Ultrasound (MRgFUS) thalamotomy, and to assess…Cerebellar cholinergic denervation relates to impaired gait and cerebellocortical resting-state functional connectivity in Parkinson disease
Objective: The purpose of this cross-sectional study was to investigate the cholinergic denervation of the cerebellum and its contribution to impaired gait and cerebellocortical resting-state…LFP-Based Deep Brain Stimulation Programming and Transition to Adaptive Deep Brain Stimulation in a Patient with Parkinson’s Disease: A Case Report from Thailand
Objective: This case report represents one of the first practical implementations of LFP-guided programming and adaptive DBS in Thailand. Background: Deep brain stimulation (DBS) of…Effects of Targeted Memory Reactivation during Sleep on Motor Memory Consolidation in Parkinson’s Disease
Objective: To study whether targeted memory reactivation (TMR) during sleep improves consolidation of a motor sequence learning task in people with Parkinson’s disease (PD) and…Basal Ganglia Pathway Recruitment Determines Bidirectional Bradykinesia Modulation by DBS in Humans
Objective: Understanding the role of distinct basal ganglia pathways in DBS-elicited modulation of bradykinesia across its indications. Background: Opposing bidirectional effects of selective pathway stimulation…
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