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Center for Brain Research in Development, Genetics, and Engineering Publications

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Below is a list of selected publications from the Center for Brain Research in Development, Genetics and Engineering.

Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy
Brain : A Journal Of Neurology · April, 2024
Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency
JCI Insight · April, 2024
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Cell Stem Cell · March, 2024
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
Cell Reports Medicine · February, 2024
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications · July, 2023
VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome
Cell Reports · June, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy
MedRxiv : The Preprint Server For Health Sciences · January, 2023
Deficits in seizure threshold and other behaviors in adult mice without gross neuroanatomic injury after late gestation transient prenatal hypoxia
Developmental Neuroscience · March, 2022
Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome
Cell Reports · March, 2022
The Atr-Chek1 pathway inhibits axon regeneration in response to Piezo-dependent mechanosensation
Nat Commun · June, 2021
Glial metabolic reprogramming promotes axon regeneration and functional recovery in the central nervous system
Cell Metab · November, 2020
Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive
Nature Medicine · May, 2018
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy
Annals Of Neurology · January, 2018