Localization of the paranodal protein Caspr in the mammalian retina

por O’Brien, Brendan J., Hirano, Arlene A., Buttermore, Elizabeth D., Bhat, Manzoor A., Peles, Elior
Publicado 2010

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

por Chopra, Maya, Modi, Meera E., Dies, Kira A., Chamberlin, Nancy L., Buttermore, Elizabeth D., Brewster, Stephanie Jo, Prock, Lisa, Sahin, Mustafa
Publicado 2022

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

por Teinert, Julian, Behne, Robert, D’Amore, Angelica, Wimmer, Miriam, Dwyer, Sean, Chen, Teresa, Buttermore, Elizabeth D., Chen, Ivy Pin-Fang, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Publicado 2019

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

por Saffari, Afshin, Brechmann, Barbara, Boeger, Cedric, Saber, Wardiya Afshar, jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian, Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth, Barrett, Lee, Borner, Georg, Davies, Alexandra, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Publicado 2023

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

por Buttermore, Elizabeth D., Anderson, Nickesha C., Chen, Pin-Fang, Makhortova, Nina R., Kim, Kristina H., Wafa, Syed M. A., Dwyer, Sean, Micozzi, John M., Winden, Kellen D., Zhang, Bo, Han, Min-Joon, Kleiman, Robin J., Brownstein, Catherine A., Sahin, Mustafa, Gonzalez-Heydrich, Joseph
Publicado 2022

Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts

por Wainger, Brian J., Buttermore, Elizabeth D., Oliveira, Julia T., Mellin, Cassidy, Lee, Seungkyu, Saber, Wardiya Afshar, Wang, Amy, Ichida, Justin K., Chiu, Isaac M., Barrett, Lee, Huebner, Eric A., Bilgin, Canan, Tsujimoto, Naomi, Brenneis, Christian, Kapur, Kush, Rubin, Lee L., Eggan, Kevin, Woolf, Clifford J.
Publicado 2014

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

por Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
Publicado 2021

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

por Loureiro, Livia O., Howe, Jennifer L., Reuter, Miriam S., Iaboni, Alana, Calli, Kristina, Roshandel, Delnaz, Pritišanac, Iva, Moses, Alan, Forman-Kay, Julie D., Trost, Brett, Zarrei, Mehdi, Rennie, Olivia, Lau, Lynette Y. S., Marshall, Christian R., Srivastava, Siddharth, Godlewski, Brianna, Buttermore, Elizabeth D., Sahin, Mustafa, Hartley, Dean, Frazier, Thomas, Vorstman, Jacob, Georgiades, Stelios, Lewis, Suzanne M. E., Szatmari, Peter, Bradley, Clarrisa A. (Lisa), Tabet, Anne-Claude, Willems, Marjolaine, Lumbroso, Serge, Piton, Amélie, Lespinasse, James, Delorme, Richard, Bourgeron, Thomas, Anagnostou, Evdokia, Scherer, Stephen W.
Publicado 2021