The expanding spectrum of neurological disorders of phosphoinositide metabolism

por Volpatti, Jonathan R., Al-Maawali, Almundher, Smith, Lindsay, Al-Hashim, Aqeela, Brill, Julie A., Dowling, James J.
Publicado 2019

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

por Volpatti, Jonathan R, Endo, Yukari, Knox, Jessica, Groom, Linda, Brennan, Stephanie, Noche, Ramil, Zuercher, William J, Roy, Peter, Dirksen, Robert T, Dowling, James J
Publicado 2020

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

por Volpatti, Jonathan R., Ghahramani-Seno, Mehdi M., Mansat, Mélanie, Sabha, Nesrin, Sarikaya, Ege, Goodman, Sarah J., Chater-Diehl, Eric, Celik, Alper, Pannia, Emanuela, Froment, Carine, Combes-Soia, Lucie, Maani, Nika, Yuki, Kyoko E., Chicanne, Gaëtan, Uusküla-Reimand, Liis, Monis, Simon, Alvi, Sana Akhtar, Genetti, Casie A., Payrastre, Bernard, Beggs, Alan H., Bonnemann, Carsten G., Muntoni, Francesco, Wilson, Michael D., Weksberg, Rosanna, Viaud, Julien, Dowling, James J.
Publicado 2022

Egg-laying and locomotory screens with C. elegans yield a nematode-selective small molecule stimulator of neurotransmitter release

por Harrington, Sean, Knox, Jessica J., Burns, Andrew R., Choo, Ken-Loon, Au, Aaron, Kitner, Megan, Haeberli, Cecile, Pyche, Jacob, D’Amata, Cassandra, Kim, Yong-Hyun, Volpatti, Jonathan R., Guiliani, Maximillano, Snider, Jamie, Wong, Victoria, Palmeira, Bruna M., Redman, Elizabeth M., Vaidya, Aditya S., Gilleard, John S., Stagljar, Igor, Cutler, Sean R., Kulke, Daniel, Dowling, James J., Yip, Christopher M., Keiser, Jennifer, Zasada, Inga, Lautens, Mark, Roy, Peter J.
Publicado 2022