Transient dystonia of infancy: 25 cases
Objective: Characterize a group of pediatric patients with transient dystonia of infancy. Background: Transient dystonia of infancy is a Developmental and Benign Movement Disorder characterized…Pediatric Tics and DCD: Motor Network Disorders?
Objective: To characterize and quantify pediatric tics and DCD according to specific movement disorder features. Background: Until now, it has been impossible to attribute the…Motor complications and others of therapy but not non-motor symptoms burden predict short-term mortality in non-demented Parkinson´s disease patients
Objective: To identify independent risk factors of mortality in a community-based Parkinson´s disease (PD) cohort during prospective long-term follow-up. Specifically, we analized the effect of…Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in children
Objective: To investigate the phenotypic and genotypic spectrum of GNB1 (guanine nucleotide-binding protein, beta 1) mutations and to functionally evaluate their pathogenicity. Background: Global developmental…Exploratory Clinical study of role of cerebral dopamine neurotrophic factor (CDNF) mediating endoplasmic reticulum stress (ERS) in Parkinson Disease
Objective: 1: to identify and measure endogenous CDNF levels in peripheral whole blood of healthy control subjects and to examine CNDF expression development profile across the life…Admixing augments nigral dopaminergic correlates during development to impart resistance to MPTP-toxicity at adulthood
Objective: Establish the developmental basis for varying nigral dopaminergic (DA) correlates in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) susceptible C57BL/6, MPTP resistant CD-1 and their resistant crossbred mice. Background:…Congenital mirror movements: When the left hand doesn’t know what the right is doing
Objective: To report on two non-related cases of congenital mirror movements (CMM). Background: Mirror movements (MM) are involuntary symmetrical movements of one side of the body that mirror intentional movements of the…Multidisciplinary Parkinson rehabilitation delays nursing home admission and is cost-effective.
Objective: The purpose of this program was to analyze whether activities of daily living (ADL) could be improved, thereby delaying definite nursing home admission and…Dystonia, myoclonus, and tremor without epilepsy associated with a mutation in STXBP1
Objective: Describe a presentation of abnormal movements associated with a mutation in STXBP1. Background: STXBP1, or the syntaxin binding protein 1 gene, is involved in…Characterization of European longitudinal cohort studies in Parkinson’s disease – Report of the JPND working group BioLoC-PD
Objective: To give an overview about ongoing European longitudinal studies investigating predictive and progression markers in Parkinson's disease (PD) to get an overview of the…
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