Two cases of Ataxia Telangiectasia Like Disorder: phenotypic spectrum associated with MRE11 gene
Objective: In this study we show a couple of siblings with a progressive cerebellar ataxia associated with mutation in MRE11A. Our goal is to demonstrate…Discharge rate dependency of bursting of pallidal neurons underlying choreic movements
Objective: To investigate the physiological mechanisms of neurons in the basal ganglia motor circuit underlying choreic movements. Background: Synchronized burst discharges and the low discharge…Efficacy and Safety of IncobotulinumtoxinA in the Treatment of Lower Limb Spasticity in Japanese Subjects
Objective: To confirm the efficacy and safety of incobotulinumtoxinA (INCO; Xeomin®, Merz Pharmaceuticals GmbH) in East Asian subjects from study sites in Japan with post-stroke…Real-World Evaluation of Patient Characteristics and Disease Management in Long-Term Valbenazine Treatment in Adults with Tardive Dyskinesia
Objective: To assess the clinical characteristics and overall disease management of adult patients receiving long-term valbenazine treatment for tardive dyskinesia (TD) in a real-world setting.…Deep Brain Stimulation (DBS) for Childhood Onset Dystonia
Objective: The aim of this study is to quantify DBS treatment outcome in patient with chilhood onset dystonia between the years 2014-2020. Background: Deep brain stimulation (DBS)…Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield
Objective: To identify the yield of genetic testing in suspected genetically determined pediatric dystonia. Identify differences in clinical factors among patients with confirmatory and non-confirmatory…Pantothenate kinase associated neurodegeneration: A familial case report of two sisters with severe dystonia
Objective: To report a familial case of severe dystonia associated with Pantothenate kinase associated neurodegeneration (PKAN). Background: Pantothenate kinase associated neurodegeneration (PKAN) is named previously…Difference in pallidal single unit activity in cervical dystonia with jerky and sinusoidal head tremor
Objective: To find electrophysiological biomarkers which differ cervical dystonia patients with jerky and sinusoidal head tremor. Background: Two common movement disorders, dystonia and tremor, frequently…Parkinson’s disease determinants, prediction and gene-environment interactions in the UK Biobank
Objective: To systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk…Diagnostic Demography of the Ataxia Unit at UNIFESP: 12 years experience
Objective: To describe the historical demography of diagnosed ataxia cases made in a tertiary neurological outpatient clinic in Sao Paulo, Brazil. Background: The term ataxia…
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