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…Deficiency of HGprt in Lesch-Nyhan disease is associated with abnormal dopaminergic neurodevelopment in vivo
Objective: To determine the in vivo effects of hypoxanthine-guanine phosphoribosyl transferase (HGprt) deficiency on dopaminergic neurodevelopment in a genetic mouse model of Lesch-Nyhan disease (LND).…Chronic cerebral hypoperfusion accelerates cognitive dysfunction and microvascular impairment in the MPTP mouse model of Parkinson’s disease
Objective: To evaluate cerebral hypoperfusion on cognitive dysfunction and related microvascular impairment in the MPTP mouse model. Background: Vascular pathology and Parkinson's disease (PD) pathology…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…Developmental movement patterns resemble movement disorder features in healthy babies and toddlers
Objective: In healthy children (0-3 years), we investigated the association between developmental motor patterns and movement disorder features. Background: The developing nervous system produces a…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…
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