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

by Elizabeth O. Stenger, Zoheb Kazi, Emily Lisi, Michael J. Gambello, Priya Kishnani
Published 2015-09-01

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

by R. Michelle Reith, Sharon Way, James McKenna, III, Katherine Haines, Michael J. Gambello
Published 2011-07-01

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

by R. Michelle Reith, James McKenna, Henry Wu, S. Shahrukh Hashmi, Seo-Hee Cho, Pramod K. Dash, Michael J. Gambello
Published 2013-03-01

Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

by Itzamarie Chévere-Torres, Hanoch Kaphzan, Aditi Bhattacharya, Areum Kang, Jordan M. Maki, Michael J. Gambello, Jack L. Arbiser, Emanuela Santini, Eric Klann
Published 2012-03-01

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

by Hong Li, Lihua Zhao, Rani Singh, J. Nina Ham, Doris O. Fadoju, Lora J.H. Bean, Yan Zhang, Yong Xu, H. Eric Xu, Michael J. Gambello
Published 2018-12-01

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...

by Manabu Taneike, Kazuhiko Nishida, Shigemiki Omiya, Elham Zarrinpashneh, Tomofumi Misaka, Rika Kitazume-Taneike, Ruth Austin, Minoru Takaoka, Osamu Yamaguchi, Michael J Gambello, Ajay M Shah, Kinya Otsu
Published 2016-01-01

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

by Uk Yeol Moon, Jun Young Park, Raehee Park, Jennifer Y. Cho, Lucinda J. Hughes, James McKenna III, Laura Goetzl, Seo-Hee Cho, Peter B. Crino, Michael J. Gambello, Seonhee Kim
Published 2015-08-01

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

by Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Michael J. Gambello, Katrina Goines, Cheryl Klaiman, Sookyong Koh, Rossana Sanchez Russo, Celine A. Saulnier, Elaine Walker, The Emory 3q29 Project, Jennifer Gladys Mulle
Published 2020-04-01

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

by Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Roberto Antonio España, Michael J. Gambello, Katrina C. B. Goines, Cheryl Klaiman, Longchuan Li, Derek M. Novacek, Ava Papetti, Rossana Lucia Sanchez Russo, Celine A. Saulnier, Sarah Shultz, Elaine Walker, Jennifer Gladys Mulle
Published 2018-06-01