Nathalie Boddaert
A5047685808- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Epilepsy research and treatment
- Vascular Malformations Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Cerebrospinal fluid and hydrocephalus
- RNA modifications and cancer
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Genomics and Rare Diseases
- Functional Brain Connectivity Studies
- RNA regulation and disease
- Meningioma and schwannoma management
- Advanced MRI Techniques and Applications
- ATP Synthase and ATPases Research
- Intracranial Aneurysms: Treatment and Complications
- Chromatin Remodeling and Cancer
- Genetic and Kidney Cyst Diseases
- Radiomics and Machine Learning in Medical Imaging
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
Institut des Maladies Génétiques Imagine
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Inserm
2016-2025
Hôpital Necker-Enfants Malades
2016-2025
Université Paris Cité
2016-2025
Sorbonne Paris Cité
2015-2025
Institut Necker Enfants Malades
2014-2024
Centre Giovanni Borelli
2020-2024
Laboratoire de Mesure du Carbone 14
2020-2024
Hospital for Sick Children
2024
During rest, brain activity is synchronized between different regions widely distributed throughout the brain, forming functional networks. However, molecular mechanisms supporting connectivity remain undefined. We show that networks defined with resting-state magnetic resonance imaging can be recapitulated by using measures of correlated gene expression in a post mortem tissue data set. The set 136 genes we identify significantly enriched for ion channels. Polymorphisms this affect large...
Diffuse intrinsic pontine glioma (DIPG) is the most severe paediatric solid tumour, with no significant therapeutic progress made in past 50 years. Recent studies suggest that diffuse midline glioma, H3-K27M mutant, may comprise more than one biological entity. The aim of study was to determine clinical and variables impact their prognosis. Ninety-one patients classically defined DIPG underwent a systematic stereotactic biopsy were included this observational retrospective study. Histone H3...
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, histomolecular characteristics between short-term survivors (STSs) long-term (LTSs). Materials Methods Data abstracted from registry databases included patients North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, United...
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions wide spectrum clinical severity. Among the 106 patients selected having complex malformations, 45 were found carry TUBA1A (42.5%), 18 TUBB2B (16.9%), 11 TUBB3 (10.4%), three (2.8%), (2.8%). No identified TUBA8. Systematic review patients' neuroimaging neuropathological data allowed us...
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have common ocular motility disorder, congenital fibrosis of extraocular muscle type 3 (CFEOM3). Surprisingly and contrast previously described TUBA1A TUBB2B phenotypes, no evidence dysfunctional neuronal migration cortical organization was reported. In our study, we report discovery six novel missense mutations including one fetal case homozygous...
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene collectively known as neurodegeneration brain accumulation. These can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim this study was to define phenotype that is mutations WDR45, a new causative for accumulation located on X chromosome. subjects consisted WDR45 mutation-positive individuals identified after screening large...
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement limit misrepresentation of self acids non-self and induction autoinflammation. By systematic screening using panel interferon-stimulated genes we identify two siblings singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy increased anti-DNA antibodies. In both families biallelic mutations in DNASE2,...
OBJECTIVE: The nature of the underlying brain dysfunction childhood autism, a life-long severe developmental disorder, is not well understood. Although researchers using functional imaging have attempted to contribute this debate, previous studies failed report consistent localized neocortical dysfunction. authors reasoned that early methods may been insensitive such dysfunction, which now be detectable with improved technology. METHOD: To test hypothesis, regional cerebral blood flow was...
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations reported. So far, there are still little data on key clinical diagnosis criteria and natural history of CDKL5-associated encephalopathy. We screened entire coding region CDKL5 for 183 females with encephalopathy early seizures by denaturing high liquid performance chromatography direct...
Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases. Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with fever, rash, manifestations, and neurologic neurosensory involvement. CAPS caused by mutations in CIAS1, gene encoding NLRP3, which plays critical role interleukin-1 (IL-1) processing. Anakinra, an IL-1 receptor antagonist, has been...