A5073326243- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- RNA modifications and cancer
- RNA Research and Splicing
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Obsessive-Compulsive Spectrum Disorders
- Botulinum Toxin and Related Neurological Disorders
- Congenital Diaphragmatic Hernia Studies
- Birth, Development, and Health
- Eating Disorders and Behaviors
- Advanced MRI Techniques and Applications
- Digital Mental Health Interventions
- Teratomas and Epidermoid Cysts
- Transcranial Magnetic Stimulation Studies
- Genetic Neurodegenerative Diseases
- Hormonal Regulation and Hypertension
- Body Image and Dysmorphia Studies
- Mental Health and Psychiatry
- Yeasts and Rust Fungi Studies
- RNA regulation and disease
- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- Molecular Biology Techniques and Applications
- Parkinson's Disease Mechanisms and Treatments
Amsterdam Neuroscience
2022-2024
Amsterdam University Medical Centers
2021-2024
University of Amsterdam
2008-2022
University Medical Center Utrecht
2021
Amsterdam UMC Location University of Amsterdam
2008-2011
Lymphatic Education & Research Network
2010
Emma Kinderziekenhuis
2008
Abstract Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar variable atrophy the cerebellum and ventral pons. Supratentorial involvement reflected by neocortical atrophy, ventriculomegaly microcephaly. Mutations in transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated pontocerebellar types 2 4. mitochondrial arginyl synthetase gene (RARS2) type...
Pontocerebellar hypoplasia (PCH) represents a group (PCH1–6) of neurodegenerative autosomal recessive disorders characterized by and/or atrophy the cerebellum, ventral pons, progressive microcephaly and variable neocortical atrophy. The majority PCH2 PCH4 cases are caused mutations in TSEN54 gene; one four subunits comprising tRNA-splicing endonuclease (TSEN) complex. We hypothesized that act through loss function mechanism. At 8 weeks gestation, human is expressed ubiquitously brain, yet...
The pontocerebellar hypoplasias (PCH) are a group of early-onset, autosomal recessive disorders resulting in abnormal growth and function the brainstem cerebellum. PCH type 2 (PCH2) is characterized by respiratory feeding difficulties at birth, extrapyramidal dyskinesia, severe developmental impairment, progressive microcephaly frequent death childhood. Neuropathologic findings include diffuse cerebral gliosis with white matter changes, hypoplastic pons depletion neurons pontine nuclei,...
Sir, Pontocerebellar hypoplasia (PCH) type 2 caused by missense mutations in TSEN54 is a distinct phenotype encompassing progressive microcephaly, swallowing problems and severe mental motor impairments. None of the patients with PCH2 achieved unsupported walking or sitting, voluntary hand control was absent almost all higher visual functioning very limited. A common characteristic extrapyramidal dyskinesia, which often presents as chorea. In more subtype PCH 4 (due to compound...
Oude en jonge ‘meesters’ geven acte de présence op jubileumdag 17 november. Jonge onderzoekers pitchen hun onderzoek. Waarop vervolgens gearriveerde psychiaters reflecteren. Kortom, vakgenoten gaan met elkaar in dialoog. In De Psychiater alvast een voorproefje: meer ervaren leggen stelling voor reageren zo prikkelend mogelijk 100 woorden. Deze keer prof. dr. Damiaan Denys, Yasmin Namavar, Hilgo Bruining Gianina Cristian aan het woord.