Modified Frameless Stereotaxy for Gene Therapy in Pediatric Movement Disorder Patients
Objective: We have developed a modified frameless stereotaxic system for viral vector delivery of gene therapy in pediatric movement disorder patients with congenital enzyme deficiency.…Non-motor symptoms in Spinocerebellar ataxia, multiple system atrophy and Idiopathic late-onset cerebellar ataxia
Objective: Recent studies suggest that non-motor symptoms (NMS) including urinary disorders, erectile dysfunction in men, orthostatic hypotension, sleep disruption, constipation, depression and anxiety are common…Cerebellar Ataxia case series study from southern Spain: Clinical and molecular description
Objective: Describe clinical features of a Cerebellar Ataxia non-Friedreich case series from southern Spain, and their molecular diagnosis. Background: Cerebellar Ataxias are a highly heterogeneous…Identification of modifiers of the age of onset variance and disease progression in a Dutch cohort of Machado-Joseph disease patients
Objective: In this project, we aim to establish correlations between the length of the CAGexp, AO, and disease progression based on International Cooperative Ataxia Rating…Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression
Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…Sydenham’s Chorea: Realities and Challenges in Sub-Saharan Africa
Objective: The aim of this study was to describe the epidemiological, clinical, paraclinical and evolutive aspects of Sydenham's chorea. Background: Sydenham's chorea is a rare…Contingent negative variation in patients with cervical dystonia related to sensory tricks
Objective: To evaluate changes in brain potentials related to sensory tricks in cervical dystonia (CD) activity compared to healthy volunteers using EEG Background: Sensory tricks…The Prevalence of Dystonic Tremor and Tremor Associated with Dystonia (TAWD) in Patients with Cervical Dystonia
Objective: To investigate the prevalence of dystonic tremor and tremor associated with dystonia (TAWD) in patients with cervical dystonia. Background: The link between dystonia and…Tremor in dystonia: Clinical and electrophysiological assessment in a large series
Objective: To determine the clinical and electrophysiological characteristics of tremor in dystonia. Background: Tremor affects more than 50% of patients diagnosed with dystonia. Tremor involves…An EMG-Motion capture analysis of Golfers with the Yips
Objective: To identify and quantify differences in shot kinematics using motion capture and Electromyography (EMG) correlates during a Golf Putting task among professional golfers for…
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