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…Progression of cortical thinning and neuropsychological decline in isolated Rapid Eye Movement sleep behavior disorder
Objective: We aimed to investigate the progression over time of cortical thickness and cognitive functions in isolated REM-sleep behaviour disorder (IRBD) compared to healthy controls (HC).…hUC-MSCs ameliorated CUMS-induced depression by modulating complement C3 signaling-mediated microglial polarization during astrocyte-microglia crosstalk
Objective: To demonstrate whether hUC-MSCs can benefit depressive-like behavior by altering C3/C3a-C3aR signaling to impact microglia polarization in the CUMS model. Background: Major depressive disorder (MDD) has been…
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