Nathalie Boddaert

This study describes the natural history of PROS using MRI scans, showing most lesions enlarge over time with progression continuing into adulthood.

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

The paper measures rest cerebral blood flow changes in infants during their first year, finding regional differences in functional brain maturation linked to cognitive development.

This study uses ASL-MRI to find reduced cerebral blood flow in the superior temporal sulcus in children with ASD, correlating with symptom severity and similar to previous PET/SPECT findings.

This study examines functional reorganization in children after hemispherotomy, finding altered perfusion and connectivity patterns in the remaining hemisphere.