A5022684911- RNA regulation and disease
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- RNA Research and Splicing
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- South Asian Cinema and Culture
- Cinema and Media Studies
- Amino Acid Enzymes and Metabolism
- Neurological and metabolic disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Connexins and lens biology
- Neonatal Health and Biochemistry
- MicroRNA in disease regulation
- Cytomegalovirus and herpesvirus research
- Diet and metabolism studies
- Folate and B Vitamins Research
- Dermatological and Skeletal Disorders
- Biochemical and Molecular Research
Amsterdam University Medical Centers
2010-2025
Amsterdam Neuroscience
2016-2025
Vrije Universiteit Amsterdam
2011-2025
Emma Kinderziekenhuis
2016-2025
University of Bern
2025
Amsterdam UMC Location Vrije Universiteit Amsterdam
2012-2024
University of Amsterdam
2016-2024
University of Utah
2022
Cognitive Research (United States)
2014-2022
University of Zurich
2014-2021
Hypomyelination is observed in the context of a growing number genetic disorders that share clinical characteristics. The aim this study was to determine possible role magnetic resonance imaging pattern recognition distinguishing different hypomyelinating disorders, which would facilitate diagnostic process. Only patients with hypomyelination known cause were included retrospective study. A total 112 Pelizaeus-Merzbacher disease, congenital cataract, hypogonadotropic hypogonadism and...
<h3>Objectives:</h3> The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive common genetic defect, based clinical and MRI findings, identify the causal defect shared by patients with this phenotype. <h3>Methods:</h3> Independent next-generation exome-sequencing studies were performed 2 unrelated leukoencephalopathy. findings these compared available MRIs database unclassified leukoencephalopathies; 11 similar abnormalities...
Sacroiliac luxation is a common traumatic feline injury, with the small size of sacral body being challenge for surgical stabilization. This study compared an innovative computer-guided drilling method conventional fluoroscopy-controlled freehand technique. Neuronavigation, using CT-based planning and real-time tracking, was evaluated against accuracy time efficiency. Bilateral sacroiliac induced in 20 cadavers. One side drilled fluoroscopy, other neuronavigation (Stealth Station S8). A...
<b><i>Background:</i></b> In 1996 diagnostic criteria were published for adults with respiratory chain disorders. Modified children also recently proposed. <b><i>Objective:</i></b> To facilitate and standardize diagnosis of disorders in children. <b><i>Methods:</i></b> A new classification has been developed, the Mitochondrial Disease Criteria (MDC), infants It considers clinical, metabolic, imaging, histopathologic features vs biochemical investigations skeletal muscle. The applied to a...
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without family history similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later life, patients display different types afebrile seizures including Arrest psychomotor development occurs the second year life and most become ataxic. Patients resistant to antiepileptic drug therapy. Recently, we described de novo mutations neuronal sodium...
<h3>Objective:</h3> To study the clinical and radiologic spectrum genotype–phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in <i>POLR3A</i> or <i>POLR3B</i>. <h3>Methods:</h3> We performed a multinational cross-sectional observational clinical, radiologic, molecular characteristics 105 mutation-proven cases. <h3>Results:</h3> The majority patients presented before 6 years with gross motor delay regression. Ten...
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment pyridoxine but responded pyridoxal 5'-phosphate. Our data suggest, however, the clinical spectrum of is much broader than has been reported in literature. Sequencing PNPO gene was undertaken for a cohort 82 individuals who shown reduction frequency and severity response or Novel sequence changes were studied using new cell-free expression system...
Abstract A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A POLR3B . Here we report eight these carrying recessive POLR1C , a gene encoding shared POLR1 POLR3 subunit, also mutated some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics ChIP sequencing, demonstrate that leukodystrophy-causative mutations,...
Summary Purpose: Refractory convulsive status epilepticus in infancy and childhood is a rare emergency situation. Metabolic disorders frequently underlie this condition, particular Alpers' disease caused by POLG1 mutations. Status may be the first symptom. A pathognomonic electroencephalography (EEG) signature facilitate diagnosis of allow timely avoidance valproic acid, which contraindicated disorder because it trigger fatal liver failure. Patients: We present five patients with mutations ....
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities suspected diagnosis leukodystrophy or genetic leukoencephalopathy. WES analyses were performed trio, greater, family groups. Diagnostic pathogenic variants identified in 35% (25 71) patients. Potentially clinically relevant genes further 7% (5 cases, giving total yield clinical diagnoses 42% individuals. These findings provide evidence that can substantially decrease...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing 11 patients disease revealed they all had same de novo mutation TUBB4A, which encodes tubulin β-4A. We investigated spectrum cohort 42 relationship between genotype phenotype. Patients were selected on basis clinical abnormalities are indicative hypomyelination cerebellum. Genetic testing inventory...