Publications

Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder

Identifying and Understanding Seizure Liability in Drug Development

The Role of Neuropathology Evaluation in the Nonclinical Assessment of Seizure Liability

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults

Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder

Clock knockout in inhibitory neurons reduces predisposition to epilepsy and influences anxiety-like behaviors in mice

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Live-Imaging Detection of Multivesicular Body-Plasma Membrane Fusion and Exosome Release in Cultured Primary Neurons

Doublecortin and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Counteracting epigenetic mechanisms regulate the structural development of neuronal circuitry in human neurons

Loss of Christianson syndrome Na+/H+ exchanger 6 (NHE6) causes abnormal endosome maturation and trafficking underlying lysosome dysfunction in neurons

Stopping the Clock on Seizures!

Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures: Improving Sleep and Seizures, Themes for Future Research

Doublecortin facilitates the elongation of the somatic Golgi apparatus into proximal dendrites

Molecular regulation of brain metabolism underlying circadian epilepsy

E-I E-I Woe: Mossy Cell Regulation of Granule Cell Activity in Temporal Lobe Epilepsy

Tubb4a mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

Kcnn2 blockade reverses learning deficits in a mouse model of fetal alcohol spectrum disorders

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect

An Implantable Micro-Caged Device for Direct Local Delivery of Agents

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Loss of CLOCK Results in Dysfunction of Brain Circuits Underlying Focal Epilepsy

Differential neuronal susceptibility and apoptosis in congenital Zika virus infection

Proteome dynamics during postnatal mouse corpus callosum development

Embryonic transcription factor expression in mice predicts medial amygdala neuronal identity and sex-specific responses to innate behavioral cues

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease

Rasmussen encephalitis tissue transfer program

The use of proteomic analysis to study trafficking defects in axons

Doublecortin-Like Kinases Promote Neuronal Survival and Induce Growth Cone Reformation via Distinct Mechanisms

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Polarity in migrating neurons is related to a mechanism analogous to cytokinesis

Doublecortin (Dcx) family proteins regulate filamentous actin structure in developing neurons

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

Doublecortin (DCX) mediates endocytosis of neurofascin independently of microtubule binding

Molecular genetics of neuronal migration disorders

Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias

Identification of neural outgrowth genes using genome-wide RNAi

Doublecortin is expressed in articular chondrocytes

Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration

Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth

Expression of inducible nitric oxide synthase and nitrotyrosine in multiple sclerosis lesions

Modulation of interleukin-1β and tumor necrosis factor α signaling by P2 purinergic receptors in human fetal astrocytes

Differential induction of chemokines in human microglia by type I and II interferons

High extracellular potassium modulates nitric oxide synthase expression in human astrocytes

IL-1β differentially regulates calcium wave propagation between primary human fetal astrocytes via pathways involving P2 receptors and gap junction channels

Cutting edge: Purinergic signaling regulates radical-mediated bacterial killing mechanisms in macrophages through a P2X7-independent mechanism

Inducible nitric oxide synthase expression is selectively induced in astrocytes isolated from adult human brain

IFNs are critical regulators of IL-1 receptor antagonist and IL-1 expression in human microglia

Interferon-beta upregulates interleukin-1 receptor antagonist in human microglia

Selective inhibition of human glial inducible nitric oxide synthase by interferon-β: Implications for multiple sclerosis

Regulation of inducible nitric oxide synthase expression in human glia: Implications for inflammatory central nervous system diseases

Expression of Type II Nitric Oxide Synthase in Primary Human Astrocytes and Microglia: Role of IL-1β and IL-1 Receptor Antagonist