Janelle E. O’Brien

发表

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function.

M. Ares, D. Black, T. Otis, 2012, Genes & development.

The More, the Better: Modeling Dravet Syndrome With Induced Pluripotent Stem Cell-Derived Neurons

Robert C. Thompson, J. Parent, M. Meisler, 2014 .

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

M. Meisler, Janelle E. O’Brien, 2013, Front. Genet..

Interaction of Voltage-gated Sodium Channel Nav1.6 (SCN8A) with Microtubule-associated Protein Map1b*

S. Dib-Hajj, S. Waxman, M. Meisler, 2012, The Journal of Biological Chemistry.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Stef van Lieshout, M. Hammer, S. Dib-Hajj, 2014, Epilepsy Research.

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

M. Meisler, L. Sharkey, Janelle E. O’Brien, 2010, The Journal of physiology.

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

B. Barres, M. Meisler, Julie M. Jones, 2012, Molecular and Cellular Neuroscience.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

M. Hammer, S. Dib-Hajj, S. Waxman, 2014, Neurobiology of Disease.

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

K. Veeramah, M. Hammer, E. Eichler, 2012, American journal of human genetics.

development and mature motor function The splicing regulator Rbfox 2 is required for both cerebellar Material

M. Ares, D. Black, T. Otis, 2012 .

Genome-wide patterns of gene flow across a house mouse hybrid zone.

Maria A Sans-Fuentes, M. Nachman, P. Tucker, 2007, Genome research.

Genome-wide patterns of gene flow across a house mouse hybrid data

M. Nachman, P. Tucker, B. Payseur, 2007 .

Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism

Robert C. Thompson, J. Parent, M. Meisler, 2013, Annals of neurology.