A5090554418- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Children's Physical and Motor Development
- Parkinson's Disease Mechanisms and Treatments
- Infant Development and Preterm Care
- Neurogenetic and Muscular Disorders Research
University of Groningen
2020-2025
University Medical Center Groningen
2020-2025
Emma Kinderziekenhuis
2022
University of Amsterdam
2022
Amsterdam University Medical Centers
2022
Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these may phenotypically mimic which can hamper their distinction. In this article, we report patient in whom initial diagnosis of DCD was withdrawn after identification...
In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early (EOA), the prevalence and pathogenesis of (EOAD+), are still unclear. 80 EOA-patients, we determined EOAD+-prevalence association with MRI-abnormalities. Subsequently, explored underlying biological pathways by genetic network functional enrichment analysis. We checked pathway-outcomes specific EOAD+-genotypes comparing results non-specifically (in-silico-determined)...
Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD remains unclear. Recent studies suggested genetic substrate some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms still lacking. In this study, we first identified described literature diagnosis according to...
Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has unclear. Recent studies suggested genetic substrate some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms still lacking. In this study, we first identified described literature diagnosis according to...