Phenotypic Aspects of Huntington’s Disease-Like 2 in Brazil and the World: Literature Review
Objective: To describe the known phenotypic profile of HDL2 patients currently described in the literature. Background: HDL2 is an autosomal dominant neurodegenerative disorder caused by…Chronic striatal cholinergic agonist infusion as a model of dystonia
Objective: The objectives of this work were to create a primate model of dystonia based on striatal infusion of a muscarinic agonist (oxotremorin), and to…GABA in the Basal Ganglia Tracks Motor Severity and Response to BoNT Treatment in Cervical Dystonia
Objective: Determine if GABA and glutamate levels within sensorimotor network nodes correlate with symptom severity in cervical dystonia (CD) and are altered by botulinum neurotoxin…Writing dysfluency associates with basal ganglia network dysfunction in writer’s cramp dystonia
Objective: The primary objective of this study was to identify brain regions associated with behavioral measures of dystonia in a specific subtype called writer’s cramp…Tremor and dizziness in a psychiatric patient
Objective: We want to report a case of a patient with anxiety whose neurological symptoms were due to a basal ganglia cavernous malformation. Background: Tremor…A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification
Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…Automatic assessment of tic expression using selfie-video
Objective: To create an automatic objective measure for quantifying tic expression and modulation in natural behavioral settings. Background: Tourette syndrome (TS) is characterized by the…Evoking Parkinsonism in Mice by a Pharmacological Approach Combined with Targeted Viral-based Manipulations of Neuronal Ensembles
Objective: We implement a pharmacological approach for eliciting dopamine deprivation using transient blockage of dopamine signaling to replicate core parkinsonian motor symptoms. Background: Parkinson’s disease…Dysconnectivity of the Parafascicular Nucleus in Parkinson’s Disease
Objective: The present study aimed to investigate the functional alterations of the parafascicular nucleus (Pf) projections in Parkinson’s disease (PD) patients. Background: Recent animal model…Exome sequencing of 584 Chinese proband with brain calcification
Objective: The aim of this study is to evaluate the diagnostic value of whole exome sequencing in Chinese patients with brain calcification, and to provide exome sequencing-based insights into the genetic…
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