Developing BACE-1 inhibitors for FXS

por Westmark, Cara J., Berry-Kravis, Elizabeth M., Ikonomidou, Chrysanthy, Yin, Jerry C. P., Puglielli, Luigi
Publicado 2013

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults

por Hong, Jinkuk, DaWalt, Leann, Baker, Mei Wang, Berry-Kravis, Elizabeth M., Mailick, Marsha R.
Publicado 2021

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

por Hong, Jinkuk, Dembo, Robert S., DaWalt, Leann Smith, Brilliant, Murray, Berry-Kravis, Elizabeth M., Mailick, Marsha
Publicado 2022

Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

por Neul, Jeffrey L., Percy, Alan K., Benke, Timothy A., Berry-Kravis, Elizabeth M., Glaze, Daniel G., Marsh, Eric D., Lin, Tim, Stankovic, Serge, Bishop, Kathie M., Youakim, James M.
Publicado 2023

Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome

por Brašić, James R., Nandi, Ayon, Russell, David S., Jennings, Danna, Barret, Olivier, Mathur, Anil, Slifer, Keith, Sedlak, Thomas, Martin, Samuel D., Brinson, Zabecca, Vyas, Pankhuri, Seibyl, John P., Berry-Kravis, Elizabeth M., Wong, Dean F., Budimirovic, Dejan B.
Publicado 2020

Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study

por Brašić, James Robert, Goodman, Jack Alexander, Nandi, Ayon, Russell, David S., Jennings, Danna, Barret, Olivier, Martin, Samuel D., Slifer, Keith, Sedlak, Thomas, Mathur, Anil Kumar, Seibyl, John P., Berry-Kravis, Elizabeth M., Wong, Dean F., Budimirovic, Dejan B.
Publicado 2022

Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1(KO) Mice

por Westmark, Cara J., Westmark, Pamela R., O'Riordan, Kenneth J., Ray, Brian C., Hervey, Crystal M., Salamat, M. Shahriar, Abozeid, Sara H., Stein, Kelsey M., Stodola, Levi A., Tranfaglia, Michael, Burger, Corinna, Berry-Kravis, Elizabeth M., Malter, James S.
Publicado 2011

Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome

por Westmark, Cara J., Kniss, Chad, Sampene, Emmanuel, Wang, Angel, Milunovich, Amie, Elver, Kelly, Hessl, David, Talboy, Amy, Picker, Jonathon, Haas-Givler, Barbara, Esler, Amy, Gropman, Andrea L., Uy, Ryan, Erickson, Craig, Velinov, Milen, Tartaglia, Nicole, Berry-Kravis, Elizabeth M.
Publicado 2020

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

por Barclay, Sarah F., Rand, Casey M., Borch, Lauren A., Nguyen, Lisa, Gray, Paul A., Gibson, William T., Wilson, Richard J. A., Gordon, Paul M. K., Aung, Zaw, Berry-Kravis, Elizabeth M., Ize-Ludlow, Diego, Weese-Mayer, Debra E., Bech-Hansen, N. Torben
Publicado 2015

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

por Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo
Publicado 2021