Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

by Srivastava, Siddharth, Naidu, Sakkubai
Published 2016

Recent advances in understanding synaptic abnormalities in Rett syndrome

by Johnston, Michael, Blue, Mary E., Naidu, Sakkubai
Published 2015

Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice

by Johnston, Michael V., Ammanuel, Simon, O'Driscoll, Cliona, Wozniak, Amy, Naidu, Sakkubai, Kadam, Shilpa D.
Published 2014

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

by Webster, Emily, Cho, Megan T., Alexander, Nora, Desai, Sonal, Naidu, Sakkubai, Bekheirnia, Mir Reza, Lewis, Andrea, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.
Published 2016

Heightened Delta Power during Slow-Wave-Sleep in Patients with Rett Syndrome Associated with Poor Sleep Efficiency

by Ammanuel, Simon, Chan, Wesley C., Adler, Daniel A., Lakshamanan, Balaji M., Gupta, Siddharth S., Ewen, Joshua B., Johnston, Michael V., Marcus, Carole L., Naidu, Sakkubai, Kadam, Shilpa D.
Published 2015

CSF and Blood Levels of GFAP in Alexander Disease

by Jany, Paige L., Agosta, Guillermo E., Benko, William S., Eickhoff, Jens C., Keller, Stephanie R., Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L., Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S., Messing, Albee
Published 2015

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

by Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Published 2016