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…Disconnected brain in functional movement disorders with anxious & depressive symptoms
Objective: The aim of this study was to investigate the functional brain network abnormalities underlying depression and/or anxiety symptoms (DEP/ANX) in functional movement disorders (FMD).…First Scientific Description of the Hepato-Lenticular Degeneration
Objective: Hepato-Lenticular Degeneration (HLD) first described by German pathologist Friedrich Theodor von Frerichs in 1854, but in the West it called Wilson's Disease. In Russia…VMAT 2 inhibitor and Antipsychotic use in Individuals with Huntington’s Disease
Objective: To retrospectively investigate whether the concomitant use of VMAT2 inhibitors and antipsychotics in individuals with Huntington's disease (HD) is associated with an increased occurrence…Translatable biomarkers in gene therapy for Huntington’s Disease: learnings from pre-clinical studies
Objective: We have developed AAV5-miHTT, a recombinant AAV-based gene therapy expressing an engineered microRNA that specifically binds to HTT exon1, resulting in lowering of both…
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