Investigación de pacientes
Artículos publicados que incluyen datos recopilados sobre pacientes.
2025
2023
2020
- Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
- Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
- Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study
Investigación genética
Artículos publicados que nos ayudan a comprender el papel del gen NR2F1.
2025
- Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior
- Novel patient-specific BBSOAS mouse models reveal genotype-phenotype correlations in brain structure and behavior
- Mitochondrial dynamics dysfunction and neurodevelopmental disorders: From pathological mechanisms to clinical translation
2022
2021
2020
2019
- Intrinsic neuronal excitability and spontaneous activity underlie cortical abnormalities upon Nr2f1/COUP-TFI deficiency
- Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome
- The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease
- Hyperactive and anxiolytic-like behaviors result from loss of COUP-TFI/Nr2f1 in the mouse cortex