A5049553755- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Congenital limb and hand anomalies
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Hedgehog Signaling Pathway Studies
- Microtubule and mitosis dynamics
- Peripheral Neuropathies and Disorders
- Congenital gastrointestinal and neural anomalies
- Congenital Heart Disease Studies
- RNA regulation and disease
- Epigenetics and DNA Methylation
- Lysosomal Storage Disorders Research
- Neurological diseases and metabolism
- Intestinal Malrotation and Obstruction Disorders
- Digestive system and related health
- RNA Research and Splicing
- Carbohydrate Chemistry and Synthesis
- Glycogen Storage Diseases and Myoclonus
- Lipid Membrane Structure and Behavior
- Hematopoietic Stem Cell Transplantation
- Coronary Artery Anomalies
Leiden University
1992-2023
Erasmus MC
2008-2023
Amsterdam Neuroscience
2023
Amsterdam UMC Location Vrije Universiteit Amsterdam
2023
Vrije Universiteit Amsterdam
2023
Utrecht University
2012-2022
University of Amsterdam
2021
Elisabeth-TweeSteden Ziekenhuis
2021
Euroimmun Medizinische Labordiagnostika (Germany)
2015
Schlumberger (Netherlands)
2015
<b>Background:</b> The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped single family an overlapping phenotype, and <i>FBXO7</i> gene mutation nominated likely disease cause. <b>Methods:</b> We performed clinical genetic studies two families signs. <b>Results:</b> An homozygous truncating (Arg498Stop) found...
The majority of neurones and glia the enteric nervous system (ENS) are derived from vagal neural crest. Shortly after emigration tube, ENS progenitors invade anterior foregut and, migrating in a rostrocaudal direction, colonise an orderly fashion rest foregut, midgut hindgut. We provide evidence that activation receptor tyrosine kinase RET by glial cell line-derived neurotrophic factor (GDNF) is required for directional migration towards within gut wall. find crest-derived cells present...
The RET receptor tyrosine kinase has a critical role in kidney organogenesis and the development of enteric nervous system. Two major isoforms, RET9 RET51, differ amino acid sequence C-terminal tail as result alternative splicing. To determine roles these isoforms vivo, we used targeted mutagenesis to generate mice that express either or RET51. Monoisoformic mice, which lack are viable appear normal. In contrast, monoisoformic RET51 animals, RET9, have hypodysplasia ganglia from colon. study...
Abstract Objective: Anti‐Tr is among the better described autoantibodies in paraneoplastic cerebellar degeneration (PCD) combined with Hodgkin lymphoma (HL); however, Tr antigen remains unidentified. Methods: We used immunoprecipitation of total rat brain extract followed by mass spectrometry to identify recognized anti‐Tr–positive sera. By Western blotting and cell‐based assays, we tested a 12 246 control sera determined region epitope anti‐Tr antibodies. Deletion mutant constructs were...
The presynaptic active zone mediates synaptic vesicle exocytosis, and modulation of its molecular composition is important for many types plasticity. Here, we identify scaffold protein liprin-α2 as a key organizer in this process. We show that levels were regulated by activity the ubiquitin–proteasome system. Furthermore, organized ultrastructure controlled output regulating pool size. presence at sites did not depend on other scaffolding proteins but was critical recruitment several...
In this study we report the clinical features of 32 patients with gamma aminobutyric acid B receptor (GABABR) antibodies, identify additional autoantibodies in anti-GABABR encephalitis that mark presence an underlying small cell lung carcinoma and optimize laboratory methods for detection GABABR antibodies. Patients (n = 3225) were tested antibodies using cell-based assay, immunohistochemistry live hippocampal neurons. Clinical data obtained retrospectively. Potassium channel tetramerization...
The authors wish to note a mistake which was incorporated in figure 3 where both Asp and Asn were given the letter code N. A correct version of its legend is printed below.
vast majority of individuals with the fragile X syndrome show expanded stretches CGG repeats In 5' non-coding region FMR1. This expansion coincides abnormal methylatlon patterns in that area resulting silencing FMR1 gene. Evidence is accumulating this directly causes phenotype. Very few other mutations FMR1, causing phenotype have been reported thus far and all concerned isolated cases. We, however, report a family, which 11 Individuals deletion 1.6 kb proximal to repeat Although chromosomes...
Autoimmune encephalitis (AIE) may present with prominent cognitive disturbances without overt inflammatory changes in MRI and CSF. Identification of these neurodegenerative dementia diagnosis mimics is important because patients generally respond to immunotherapy. The objective this study was determine the frequency neuronal antibodies presumed describe clinical characteristics antibodies.In retrospective cohort study, 920 were included from established cohorts at 2 large Dutch academic...
The fragile X syndrome is the most frequent cause of inherited mental retardation. molecular mechanism disorder based on expansion a CGG repeat in 5' UTR FMR1 gene In majority patients. instability this containing region not restricted to Itself but expands flanking as well. We describe four unrelated patients that are mosaic for both full mutation and small deletion region. Sequence analysis regions surrounding deletions showed (CGG)n some sequences were missing all breakpoints found be...
The receptor tyrosine kinase Ret plays a critical role in the development of mammalian excretory and enteric nervous systems.Differential splicing primary transcript results generation two main isoforms, Ret9 Ret51, whose C-terminal amino acid tails diverge after (Y) 1062.Monoisoformic mice expressing only develop normally are healthy fertile.In contrast, animals Ret51 have aganglionosis distal gut hypoplastic kidneys.By generating monoisoformic which Y1062 has been mutated to phenylalanine,...