A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

por Perez-Siles, G., Ellis, M., Ashe, A., Grosz, B., Vucic, S., Kiernan, M. C., Morris, K. A., Reddel, S. W., Kennerson, M. L.
Publicado 2022

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

por Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.
Publicado 2020