Kinesin-1-mediated axonal transport of CB1 receptors is required for cannabinoid-dependent axonal growth and guidance

gan Saez, Trinidad M. M., Fernandez Bessone, Iván, Rodriguez, María S., Alloatti, Matías, Otero, María G., Cromberg, Lucas E., Pozo Devoto, Victorio M., Oubiña, Gonzalo, Sosa, Lucas, Buffone, Mariano G., Gelman, Diego M., Falzone, Tomás L.
Cyhoeddwyd yn Development (2020)

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

gan Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark
Cyhoeddwyd yn Ann Clin Transl Neurol (2018)

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

gan Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Cyhoeddwyd yn Genet Med (2020)