The expanding spectrum of neurological disorders of phosphoinositide metabolism

著者: Volpatti, Jonathan R., Al-Maawali, Almundher, Smith, Lindsay, Al-Hashim, Aqeela, Brill, Julie A., Dowling, James J.
出版年 Dis Model Mech (2019)

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

著者: Volpatti, Jonathan R, Endo, Yukari, Knox, Jessica, Groom, Linda, Brennan, Stephanie, Noche, Ramil, Zuercher, William J, Roy, Peter, Dirksen, Robert T, Dowling, James J
出版年 eLife (2020)

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

著者: Sabha, Nesrin, Volpatti, Jonathan R., Gonorazky, Hernan, Reifler, Aaron, Davidson, Ann E., Li, Xingli, Eltayeb, Nadine M., Dall’Armi, Claudia, Di Paolo, Gilbert, Brooks, Susan V., Buj-Bello, Ana, Feldman, Eva L., Dowling, James J.
出版年 J Clin Invest (2016)