Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

by Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Published 2021-07-01

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

by Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Published 2019-02-01