Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency

Por Schreiber, John M., Pearl, Phillip L., Dustin, Irene, Wiggs, Edythe, Barrios, Emily, Wassermann, Eric M., Gibson, K. Michael, Theodore, William H.
Publicado no JIMD Rep (2016)

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

Por Schreiber, John M., Lanham, Diane C., Trescher, William H., Sparks, Susan E., Wassif, Christopher A., Caffo, Brian S., Porter, Forbes D., Tierney, Elaine, Gropman, Andrea L., Ewen, Joshua B.
Publicado em 2014

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Por Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Publicado em 2014

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Por Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline
Publicado no Am J Hum Genet (2015)