Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Judy Weisenberg"'
Autor:
Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in
Externí odkaz:
https://doaj.org/article/8965eaa1967a46efa6f51cdbea956310
Autor:
Heather E. Olson, Scott Demarest, Elia Pestana‐Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez‐Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love‐Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri
Publikováno v:
Epilepsia.
Autor:
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska
Publikováno v:
The Lancet Neurology. 21:417-427
CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory
Autor:
Susan L. Christian, Bryce M. Paschal, Adam Spencer, Joshua B. Kelley, William B. Dobyns, Dalia Ghoneim, Liu Lin Thio, Emily Tuttle, Alex R. Paciorkowski, Judy Weisenberg
Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7f7d8597aafa9d57fd87257f3170ef