Zobrazeno 1 - 4
of 4
pro vyhledávání: '"JiaJie Teoh"'
Autor:
Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, Sabrina Petri, Verity A Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Yueqing Peng, Mu Yang, Michael J Boland, Wayne N Frankel, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010952 (2023)
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://doaj.org/article/93dac0bdf894409681fb60b44fc34f59
Autor:
JiaJie Teoh, Narayan Subramanian, Maria Elena Pero, Francesca Bartolini, Ariadna Amador, Ayla Kanber, Damian Williams, Sabrina Petri, Mu Yang, Andrew S. Allen, Jules Beal, Sheryl R. Haut, Wayne N. Frankel
Publikováno v:
Neurobiology of Disease, Vol 134, Iss , Pp - (2020)
ARFGEF1 encodes a guanine exchange factor involved in intracellular vesicle trafficking, and is a candidate gene for childhood genetic epilepsies. To model ARFGEF1 haploinsufficiency observed in a recent Lennox Gastaut Syndrome patient, we studied a
Externí odkaz:
https://doaj.org/article/62c055568b404c979e12f62ef14dc3c5
Autor:
Heather E. Olson, Michael J. Boland, Hunki Paek, David Goldstein, Wei Han, Sabrina Petri, Chad R. Camp, Ayla Kanber, Wenjuan Chen, Weiting Tang, Hongjie Yuan, Stephen F. Traynelis, Megha Sah, Ana Kim, Mu Yang, Jurrian Peters, Annapurna Poduri, Subhrajit Bhattacharya, Christopher D. Bostick, Ariadna Amador, Wayne N. Frankel, Sukhan Kim, Cathleen M. Lutz, Daniel Krizay, Scott J. Myers, JiaJie Teoh
Publikováno v:
Brain
NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language delay to intractable neurodevelopmental diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad4a7e0b36fd7263293e7328cfcd3d0
https://europepmc.org/articles/PMC7363493/
https://europepmc.org/articles/PMC7363493/
Autor:
Sarah A. Dugger, Ryan S. Dhindsa, Gabriela De Almeida Sampaio, Andrew K. Ressler, Elizabeth E. Rafikian, Sabrina Petri, Verity A. Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Mu Yang, Michael J. Boland, Wayne N. Frankel, David B. Goldstein
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f5c596297034892f61fd360d4f8b81a