Caroline Nava
- Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
2018/05/22 by Anne Koy, Sebahattin Cirak, Sebahattin Çırak +27 · 25 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Neurogenetic and Muscular Disorders Research #Genetic Syndromes and Imprinting
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021/05/01 by Norine Voisin, Rhonda E. Schnur, Sofia Douzgou +74 · 16 citations
Biochemistry, Genetics and Molecular Biology · #Ubiquitin and proteasome pathways #Genetics and Neurodevelopmental Disorders #Cancer-related gene regulation
- Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025/05/16 by Caroline Nava, Benjamin Cogné, Amandine Santini +97 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #RNA Research and Splicing #RNA modifications and cancer #RNA and protein synthesis mechanisms
- Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
2025/06/09 by Marissa J. Maroni, M. Kathryn Barton, Katherine A. Lynch +51 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Cancer-related gene regulation #Genetics and Neurodevelopmental Disorders