Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

por Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya
Publicado 2015

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

por Tanaka, Teruyuki, Serneo, Finley F., Higgins, Christine, Gambello, Michael J., Wynshaw-Boris, Anthony, Gleeson, Joseph G.
Publicado 2004

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

por Way, Sharon W., McKenna, James, Mietzsch, Ulrike, Reith, R. Michelle, Wu, Henry Cheng-ju, Gambello, Michael J.
Publicado 2009

Intrahippocampal glutamine administration inhibits mTORC1 signaling and impairs long-term memory

por Rozas, Natalia S., Redell, John B., Pita-Almenar, Juan D., Mckenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.
Publicado 2015

Musculoskeletal phenotypes in 3q29 deletion syndrome

por Pollak, Rebecca M, Tilmon, Jacob C, Murphy, Melissa M, Gambello, Michael J, Russo, Rossana Sanchez, Dormans, John P, Mulle, Jennifer G
Publicado 2023

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

por Mak, Bryan C., Sanchez Russo, Rossana, Gambello, Michael J., Fleischer, Nicole, Black, Emily D., Leslie, Elizabeth, Murphy, Melissa M., Mulle, Jennifer Gladys
Publicado 2021

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

por Li, Hong, Zhao, Lihua, Singh, Rani, Ham, J. Nina, Fadoju, Doris O., Bean, Lora J.H., Zhang, Yan, Xu, Yong, Xu, H. Eric, Gambello, Michael J.
Publicado 2018

mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the...

por Taneike, Manabu, Nishida, Kazuhiko, Omiya, Shigemiki, Zarrinpashneh, Elham, Misaka, Tomofumi, Kitazume-Taneike, Rika, Austin, Ruth, Takaoka, Minoru, Yamaguchi, Osamu, Gambello, Michael J., Shah, Ajay M., Otsu, Kinya
Publicado 2016

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

por Murphy, Melissa M., Burrell, T. Lindsey, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Gambello, Michael J., Goines, Katrina, Klaiman, Cheryl, Koh, Sookyong, Russo, Rossana Sanchez, Saulnier, Celine A., Walker, Elaine, Mulle, Jennifer Gladys
Publicado 2020

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado 2013

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome

por Murphy, Melissa M., Lindsey Burrell, T., Cubells, Joseph F., España, Roberto Antonio, Gambello, Michael J., Goines, Katrina C. B., Klaiman, Cheryl, Li, Longchuan, Novacek, Derek M., Papetti, Ava, Sanchez Russo, Rossana Lucia, Saulnier, Celine A., Shultz, Sarah, Walker, Elaine, Mulle, Jennifer Gladys
Publicado 2018

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

por Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn
Publicado 2019

Glucose Regulation of Load‐Induced mTOR Signaling and ER Stress in Mammalian Heart

por Sen, Shiraj, Kundu, Bijoy K., Wu, Henry Cheng‐Ju, Hashmi, S. Shahrukh, Guthrie, Patrick, Locke, Landon W., Roy, R. Jack, Matherne, G. Paul, Berr, Stuart S., Terwelp, Matthew, Scott, Brian, Carranza, Sylvia, Frazier, O. Howard, Glover, David K., Dillmann, Wolfgang H., Gambello, Michael J., Entman, Mark L., Taegtmeyer, Heinrich
Publicado 2013

Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression

por Linke, Monika, Pham, Ha Thi Thanh, Katholnig, Karl, Schnöller, Thomas, Miller, Anne, Demel, Florian, Schütz, Birgit, Rosner, Margit, Kovacic, Boris, Sukhbaatar, Nyamdelger, Niederreiter, Birgit, Blüml, Stephan, Kuess, Peter, Sexl, Veronika, Müller, Mathias, Mikula, Mario, Weckwerth, Wolfram, Haschemi, Arvand, Susani, Martin, Hengstschläger, Markus, Gambello, Michael J, Weichhart, Thomas
Publicado 2017

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

por Sanchez Russo, Rossana, Gambello, Michael J., Murphy, Melissa M., Aberizk, Katrina, Black, Emily, Burrell, T. Lindsey, Carlock, Grace, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Goines, Katrina, Guest, Ryan M., Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J., Li, Longchuan, Novacek, Derek M., Saulnier, Celine A., Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys
Publicado 2021

Primrose syndrome: Characterization of the phenotype in 42 patients

por Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.
Publicado 2020